UniProtKB - P17405 (ASM_HUMAN)
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- BLAST>sp|P17405|ASM_HUMAN Sphingomyelin phosphodiesterase OS=Homo sapiens OX=9606 GN=SMPD1 PE=1 SV=4 MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALSDSRVLWAPAEAH PLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLC NLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISLPT VPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASRPG AGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTTVT ALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALRT LRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKV HIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAF LAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRAR ETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSAR ADSPALCRHLMPDGSLPEAQSLWPRPLFC
- Align
Sphingomyelin phosphodiesterase
SMPD1
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.1"Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs."
Schuchman E.H., Suchi M., Takahashi T., Sandhoff K., Desnick R.J.
J. Biol. Chem. 266:8531-8539(1991) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CATALYTIC ACTIVITY, ALTERNATIVE SPLICING, VARIANTS ILE-322 AND ARG-506. - Ref.12"Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency."
Acuna M., Castro-Fernandez V., Latorre M., Castro J., Schuchman E.H., Guixe V., Gonzalez M., Zanlungo S.
Biochem. Biophys. Res. Commun. 479:496-501(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT NPDB ASP-357. - Ref.13"Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B."
Acuna M., Martinez P., Moraga C., He X., Moraga M., Hunter B., Nuernberg P., Gutierrez R.A., Gonzalez M., Schuchman E.H., Santos J.L., Miquel J.F., Mabe P., Zanlungo S.
Eur. J. Hum. Genet. 24:208-213(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT NPDB ASP-357, CHARACTERIZATION OF VARIANT NPDB ASP-357. - Ref.34"Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models."
Jones I., He X., Katouzian F., Darroch P.I., Schuchman E.H.
Mol. Genet. Metab. 95:152-162(2008) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS NPDA PRO-302 AND LEU-496, CHARACTERIZATION OF VARIANTS NPDB TYR-421 AND ARG-608 DEL, FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.1"Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs."
Schuchman E.H., Suchi M., Takahashi T., Sandhoff K., Desnick R.J.
J. Biol. Chem. 266:8531-8539(1991) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CATALYTIC ACTIVITY, ALTERNATIVE SPLICING, VARIANTS ILE-322 AND ARG-506.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.1"Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs."
Schuchman E.H., Suchi M., Takahashi T., Sandhoff K., Desnick R.J.
J. Biol. Chem. 266:8531-8539(1991) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CATALYTIC ACTIVITY, ALTERNATIVE SPLICING, VARIANTS ILE-322 AND ARG-506.
Miscellaneous
Caution
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.27"The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations."
Simonaro C.M., Desnick R.J., McGovern M.M., Wasserstein M.P., Schuchman E.H.
Am. J. Hum. Genet. 71:1413-1419(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDB VAL-49; TRP-92; PRO-137; ARG-157; PRO-196; CYS-200; MET-225; CYS-228; ASP-232; SER-245; ARG-248; HIS-289; ALA-323; ARG-330; ASP-357; HIS-376; LEU-376; PRO-379; VAL-413; TYR-421; ARG-431; PRO-432; CYS-435; VAL-452; ASP-456; TRP-474; LEU-475; LEU-480; ASN-488; SER-494; CYS-496; GLN-514; VAL-515; ARG-533; PRO-549; ASN-576; HIS-600 AND PRO-600, VARIANT VAL-485. - Ref.29"Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1."
Ricci V., Stroppiano M., Corsolini F., Di Rocco M., Parenti G., Regis S., Grossi S., Biancheri R., Mazzotti R., Filocamo M.
Hum. Mutat. 24:105-105(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA PRO-103; SER-245; LYS-246; HIS-313; PRO-450; LEU-475; LEU-496; HIS-496 AND CYS-517, VARIANT GLN-294. - Ref.43"The acid sphingomyelinase sequence variant p.A487V is not associated with decreased levels of enzymatic activity."
Rhein C., Naumann J., Muehle C., Zill P., Adli M., Hegerl U., Hiemke C., Mergl R., Moeller H.J., Reichel M., Kornhuber J.
JIMD Rep. 8:1-6(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT NPDB ALA-323, CHARACTERIZATION OF VARIANT VAL-485.
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. the chemical reaction it catalyzes. This information usually correlates with the presence of an EC (Enzyme Commission) number in the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.1"Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs."
Schuchman E.H., Suchi M., Takahashi T., Sandhoff K., Desnick R.J.
J. Biol. Chem. 266:8531-8539(1991) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CATALYTIC ACTIVITY, ALTERNATIVE SPLICING, VARIANTS ILE-322 AND ARG-506. - Ref.8"Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene."
Schissel S.L., Schuchman E.H., Williams K.J., Tabas I.
J. Biol. Chem. 271:18431-18436(1996) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, COFACTOR, SUBCELLULAR LOCATION. - Ref.14"Structure of human acid sphingomyelinase reveals the role of the saposin domain in activating substrate hydrolysis."
Xiong Z.J., Huang J., Poda G., Pomes R., Prive G.G.
J. Mol. Biol. 428:3026-3042(2016) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (2.80 ANGSTROMS) OF 47-629 OF MUTANT SER-629 IN COMPLEX WITH ZINC, CATALYTIC ACTIVITY, GLYCOSYLATION AT ASN-86; ASN-175; ASN-335; ASN-395; ASN-503 AND ASN-520, DISULFIDE BONDS, SUBUNIT. - Ref.16"Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A."
Ferlinz K., Hurwitz R., Sandhoff K.
Biochem. Biophys. Res. Commun. 179:1187-1191(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDA SER-577, CHARACTERIZATION OF VARIANT NPDA SER-577, CATALYTIC ACTIVITY. - Ref.32"Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study."
Pavluu-Pereira H., Asfaw B., Poupctova H., Ledvinova J., Sikora J., Vanier M.T., Sandhoff K., Zeman J., Novotna Z., Chudoba D., Elleder M.
J. Inherit. Metab. Dis. 28:203-227(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA ARG-166; LEU-184; HIS-228; VAL-241; ARG-248; GLU-251; ALA-278; HIS-289; LYS-292; PRO-341; HIS-376; TRP-474; ARG-533 AND SER-577, VARIANT ARG-506, CATALYTIC ACTIVITY, CHARACTERIZATION OF VARIANTS NPDA LEU-184; GLU-251; ALA-278; LYS-292; PRO-341 AND HIS-376. - Ref.34"Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models."
Jones I., He X., Katouzian F., Darroch P.I., Schuchman E.H.
Mol. Genet. Metab. 95:152-162(2008) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS NPDA PRO-302 AND LEU-496, CHARACTERIZATION OF VARIANTS NPDB TYR-421 AND ARG-608 DEL, FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY. - Ref.46"Alleged detrimental mutations in the SMPD1 gene in patients with Niemann-Pick disease."
Rhein C., Muehle C., Kornhuber J., Reichel M.
Int. J. Mol. Sci. 16:13649-13652(2015) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT NPDB ALA-323, CHARACTERIZATION OF VARIANTS ALA-36; VAL-485 AND ARG-506, CATALYTIC ACTIVITY.
<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene."
Schissel S.L., Schuchman E.H., Williams K.J., Tabas I.
J. Biol. Chem. 271:18431-18436(1996) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, COFACTOR, SUBCELLULAR LOCATION.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene."
Schissel S.L., Schuchman E.H., Williams K.J., Tabas I.
J. Biol. Chem. 271:18431-18436(1996) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, COFACTOR, SUBCELLULAR LOCATION. - Ref.14"Structure of human acid sphingomyelinase reveals the role of the saposin domain in activating substrate hydrolysis."
Xiong Z.J., Huang J., Poda G., Pomes R., Prive G.G.
J. Mol. Biol. 428:3026-3042(2016) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (2.80 ANGSTROMS) OF 47-629 OF MUTANT SER-629 IN COMPLEX WITH ZINC, CATALYTIC ACTIVITY, GLYCOSYLATION AT ASN-86; ASN-175; ASN-335; ASN-395; ASN-503 AND ASN-520, DISULFIDE BONDS, SUBUNIT. - Ref.15"Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease."
Zhou Y.F., Metcalf M.C., Garman S.C., Edmunds T., Qiu H., Wei R.R.
Nat. Commun. 7:13082-13082(2016) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (2.25 ANGSTROMS) OF 47-629 OF APOENZYME AND IN COMPLEX WITH PHOSPHOCHOLINE AND ZINC, COFACTOR, GLYCOSYLATION AT ASN-86; ASN-175; ASN-335; ASN-395; ASN-503 AND ASN-520.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi | 206 | Zinc 1Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi | 208 | Zinc 1; via tele nitrogenCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi | 278 | Zinc 1Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi | 278 | Zinc 2Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi | 318 | Zinc 2Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi | 425 | Zinc 2; via tele nitrogenCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi | 457 | Zinc 2; via pros nitrogenCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi | 459 | Zinc 1; via tele nitrogenCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- acid sphingomyelin phosphodiesterase activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- hydrolase activity, acting on glycosyl bonds Source: UniProtKB-KW
- sphingomyelin phosphodiesterase activity Source: Reactome
- zinc ion binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- ceramide biosynthetic process Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- glycosphingolipid metabolic process Source: Reactome
- negative regulation of MAP kinase activity Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- nervous system development Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- positive regulation of apoptotic process Source: Ensembl
- positive regulation of protein dephosphorylation Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- response to cocaine Source: Ensembl
- signal transduction Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- sphingomyelin catabolic process Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- sphingomyelin metabolic process Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- termination of signal transduction Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Glycosidase, Hydrolase |
| Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-1660662 Glycosphingolipid metabolism |
SIGNOR Signaling Network Open Resource More...SIGNORi | P17405 |
Chemistry databases
SwissLipids knowledge resource for lipid biology More...SwissLipidsi | SLP:000001748 |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Sphingomyelin phosphodiesterase (EC:3.1.4.126 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
Alternative name(s): Acid sphingomyelinase1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
Short name: aSMase |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:SMPD1 Synonyms:ASM |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000166311.9 |
Human Gene Nomenclature Database More...HGNCi | HGNC:11120 SMPD1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 607608 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P17405 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Extracellular region or secreted
- Secreted 3 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene."
Schissel S.L., Schuchman E.H., Williams K.J., Tabas I.
J. Biol. Chem. 271:18431-18436(1996) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, COFACTOR, SUBCELLULAR LOCATION. - Ref.12"Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency."
Acuna M., Castro-Fernandez V., Latorre M., Castro J., Schuchman E.H., Guixe V., Gonzalez M., Zanlungo S.
Biochem. Biophys. Res. Commun. 479:496-501(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT NPDB ASP-357. - Ref.13"Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B."
Acuna M., Martinez P., Moraga C., He X., Moraga M., Hunter B., Nuernberg P., Gutierrez R.A., Gonzalez M., Schuchman E.H., Santos J.L., Miquel J.F., Mabe P., Zanlungo S.
Eur. J. Hum. Genet. 24:208-213(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT NPDB ASP-357, CHARACTERIZATION OF VARIANT NPDB ASP-357.
- Secreted 3 Publications
Lysosome
- Lysosome 2 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.12"Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency."
Acuna M., Castro-Fernandez V., Latorre M., Castro J., Schuchman E.H., Guixe V., Gonzalez M., Zanlungo S.
Biochem. Biophys. Res. Commun. 479:496-501(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT NPDB ASP-357. - Ref.34"Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models."
Jones I., He X., Katouzian F., Darroch P.I., Schuchman E.H.
Mol. Genet. Metab. 95:152-162(2008) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS NPDA PRO-302 AND LEU-496, CHARACTERIZATION OF VARIANTS NPDB TYR-421 AND ARG-608 DEL, FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY.
- Lysosome 2 Publications
Endosome
- endosome Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Extracellular region or secreted
- extracellular exosome Source: UniProtKBInferred from high throughput direct assayi
- extracellular space Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Lysosome
- lysosomal lumen Source: Reactome
- lysosome Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Plasma Membrane
- plasma membrane Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Other locations
- lamellar body Source: Ensembl
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Lysosome, Secreted<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Niemann-Pick disease A (NPDA)18 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.16"Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A."
Ferlinz K., Hurwitz R., Sandhoff K.
Biochem. Biophys. Res. Commun. 179:1187-1191(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDA SER-577, CHARACTERIZATION OF VARIANT NPDA SER-577, CATALYTIC ACTIVITY. - Ref.17"Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients."
Levran O., Desnick R.J., Schuchman E.H.
Proc. Natl. Acad. Sci. U.S.A. 88:3748-3752(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDA LEU-496. - Ref.19"Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients."
Levran O., Desnick R.J., Schuchman E.H.
Blood 80:2081-2087(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDA PRO-302. - Ref.21"Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms."
Takahashi T., Suchi M., Desnick R.J., Takada G., Schuchman E.H.
J. Biol. Chem. 267:12552-12558(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDA ILE-382, VARIANTS NPDB ARG-242 AND SER-383. - Ref.23"Two new mutations in the acid sphingomyelinase gene causing type A Niemann-pick disease: N389T and R441X."
Schuchman E.H.
Hum. Mutat. 6:352-354(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDA THR-389. - Ref.24"Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease."
Takahashi T., Suchi M., Sato W., Ten S.B., Sakuragawa N., Desnick R.J., Schuchman E.H., Takada G.
Tohoku J. Exp. Med. 177:117-123(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDA CYS-446. - Ref.26"Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency."
Pavluu H., Elleder M.
J. Inherit. Metab. Dis. 20:615-616(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA LYS-292 AND PRO-341. - Ref.28"Seven novel Acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients."
Sikora J., Pavluu-Pereira H., Elleder M., Roelofs H., Wevers R.A.
Ann. Hum. Genet. 67:63-70(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA ARG-248; TYR-319; SER-463; LEU-475 AND HIS-537, VARIANTS NPDB SER-371 AND ARG-608 DEL. - Ref.29"Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1."
Ricci V., Stroppiano M., Corsolini F., Di Rocco M., Parenti G., Regis S., Grossi S., Biancheri R., Mazzotti R., Filocamo M.
Hum. Mutat. 24:105-105(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA PRO-103; SER-245; LYS-246; HIS-313; PRO-450; LEU-475; LEU-496; HIS-496 AND CYS-517, VARIANT GLN-294. - Ref.32"Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study."
Pavluu-Pereira H., Asfaw B., Poupctova H., Ledvinova J., Sikora J., Vanier M.T., Sandhoff K., Zeman J., Novotna Z., Chudoba D., Elleder M.
J. Inherit. Metab. Dis. 28:203-227(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA ARG-166; LEU-184; HIS-228; VAL-241; ARG-248; GLU-251; ALA-278; HIS-289; LYS-292; PRO-341; HIS-376; TRP-474; ARG-533 AND SER-577, VARIANT ARG-506, CATALYTIC ACTIVITY, CHARACTERIZATION OF VARIANTS NPDA LEU-184; GLU-251; ALA-278; LYS-292; PRO-341 AND HIS-376. - Ref.34"Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models."
Jones I., He X., Katouzian F., Darroch P.I., Schuchman E.H.
Mol. Genet. Metab. 95:152-162(2008) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS NPDA PRO-302 AND LEU-496, CHARACTERIZATION OF VARIANTS NPDB TYR-421 AND ARG-608 DEL, FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY. - Ref.36"Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients."
Rodriguez-Pascau L., Gort L., Schuchman E.H., Vilageliu L., Grinberg D., Chabas A.
Hum. Mutat. 30:1117-1122(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA SER-245; CYS-367; PHE-390 DEL; ARG-421; SER-467; GLU-482 AND THR-592 DEL, VARIANTS NPDB CYS-228; HIS-376; TRP-474; ALA-486 AND ARG-608 DEL. - Ref.37"Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease."
Desnick J.P., Kim J., He X., Wasserstein M.P., Simonaro C.M., Schuchman E.H.
Mol. Med. 16:316-321(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA ARG-209 AND HIS-251, VARIANTS NPDB MET-312; ARG-425 AND HIS-523, CHARACTERIZATION OF VARIANTS NPDA ARG-209 AND HIS-251, CHARACTERIZATION OF VARIANTS NPDB MET-312; ARG-425 AND HIS-523. - Ref.40"Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease."
Toth B., Erdos M., Szekely A., Ritli L., Bagossi P., Suemegi J., Marodi L.
JIMD Rep. 3:125-129(2012) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA ASP-245 AND LEU-570, CHARACTERIZATION OF VARIANTS NPDA ASP-245 AND LEU-570. - Ref.41"Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients."
Hollak C.E., de Sonnaville E.S., Cassiman D., Linthorst G.E., Groener J.E., Morava E., Wevers R.A., Mannens M., Aerts J.M., Meersseman W., Akkerman E., Niezen-Koning K.E., Mulder M.F., Visser G., Wijburg F.A., Lefeber D., Poorthuis B.J.
Mol. Genet. Metab. 107:526-533(2012) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDB HIS-89; PRO-103; PRO-161; CYS-228; SER-371; PRO-549 AND ARG-608 DEL, VARIANTS NPDA ARG-248; SER-463; LEU-475 AND HIS-537. - Ref.42"Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B."
Irun P., Mallen M., Dominguez C., Rodriguez-Sureda V., Alvarez-Sala L.A., Arslan N., Bermejo N., Guerrero C., Perez de Soto I., Villalon L., Giraldo P., Pocovi M.
Clin. Genet. 84:356-361(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA ARG-226 AND ARG-385, VARIANTS NPDB CYS-228; SER-245; HIS-376; TRP-474; SER-490; PHE-597 AND ARG-608 DEL. - Ref.44"Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease."
Ranganath P., Matta D., Bhavani G.S., Wangnekar S., Jain J.M., Verma I.C., Kabra M., Puri R.D., Danda S., Gupta N., Girisha K.M., Sankar V.H., Patil S.J., Ramadevi A.R., Bhat M., Gowrishankar K., Mandal K., Aggarwal S. , Tamhankar P.M., Tilak P., Phadke S.R., Dalal A.
Am. J. Med. Genet. A 170:2719-2730(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS ALA-36; PHE-508 AND GLY-603, VARIANTS NPDA ARG-214; CYS-228; SER-253; ARG-317; PRO-322; ARG-341; ARG-361; HIS-389; ARG-391; SER-424; ILE-492; HIS-496; ARG-533 AND HIS-600, VARIANTS NPDB PRO-103; PHE-280; ASP-318; CYS-367; SER-463; LEU-518 AND LYS-547. - Ref.45"SMPD1 mutation update: database and comprehensive analysis of published and novel variants."
Zampieri S., Filocamo M., Pianta A., Lualdi S., Gort L., Coll M.J., Sinnott R., Geberhiwot T., Bembi B., Dardis A.
Hum. Mutat. 37:139-147(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDB ILE-256; GLN-474; ASP-575; ARG-596 AND CYS-608, VARIANT NPDA PHE-480 DEL, REVIEW ON VARIANTS.
Ferlinz K., Hurwitz R., Sandhoff K.
Biochem. Biophys. Res. Commun. 179:1187-1191(1991) [PubMed] [Europe PMC] [Abstract]
Levran O., Desnick R.J., Schuchman E.H.
Proc. Natl. Acad. Sci. U.S.A. 88:3748-3752(1991) [PubMed] [Europe PMC] [Abstract]
Levran O., Desnick R.J., Schuchman E.H.
Blood 80:2081-2087(1992) [PubMed] [Europe PMC] [Abstract]
Takahashi T., Suchi M., Desnick R.J., Takada G., Schuchman E.H.
J. Biol. Chem. 267:12552-12558(1992) [PubMed] [Europe PMC] [Abstract]
Schuchman E.H.
Hum. Mutat. 6:352-354(1995) [PubMed] [Europe PMC] [Abstract]
Takahashi T., Suchi M., Sato W., Ten S.B., Sakuragawa N., Desnick R.J., Schuchman E.H., Takada G.
Tohoku J. Exp. Med. 177:117-123(1995) [PubMed] [Europe PMC] [Abstract]
Pavluu H., Elleder M.
J. Inherit. Metab. Dis. 20:615-616(1997) [PubMed] [Europe PMC] [Abstract]
Sikora J., Pavluu-Pereira H., Elleder M., Roelofs H., Wevers R.A.
Ann. Hum. Genet. 67:63-70(2003) [PubMed] [Europe PMC] [Abstract]
Ricci V., Stroppiano M., Corsolini F., Di Rocco M., Parenti G., Regis S., Grossi S., Biancheri R., Mazzotti R., Filocamo M.
Hum. Mutat. 24:105-105(2004) [PubMed] [Europe PMC] [Abstract]
Pavluu-Pereira H., Asfaw B., Poupctova H., Ledvinova J., Sikora J., Vanier M.T., Sandhoff K., Zeman J., Novotna Z., Chudoba D., Elleder M.
J. Inherit. Metab. Dis. 28:203-227(2005) [PubMed] [Europe PMC] [Abstract]
Jones I., He X., Katouzian F., Darroch P.I., Schuchman E.H.
Mol. Genet. Metab. 95:152-162(2008) [PubMed] [Europe PMC] [Abstract]
Rodriguez-Pascau L., Gort L., Schuchman E.H., Vilageliu L., Grinberg D., Chabas A.
Hum. Mutat. 30:1117-1122(2009) [PubMed] [Europe PMC] [Abstract]
Desnick J.P., Kim J., He X., Wasserstein M.P., Simonaro C.M., Schuchman E.H.
Mol. Med. 16:316-321(2010) [PubMed] [Europe PMC] [Abstract]
Toth B., Erdos M., Szekely A., Ritli L., Bagossi P., Suemegi J., Marodi L.
JIMD Rep. 3:125-129(2012) [PubMed] [Europe PMC] [Abstract]
Hollak C.E., de Sonnaville E.S., Cassiman D., Linthorst G.E., Groener J.E., Morava E., Wevers R.A., Mannens M., Aerts J.M., Meersseman W., Akkerman E., Niezen-Koning K.E., Mulder M.F., Visser G., Wijburg F.A., Lefeber D., Poorthuis B.J.
Mol. Genet. Metab. 107:526-533(2012) [PubMed] [Europe PMC] [Abstract]
Irun P., Mallen M., Dominguez C., Rodriguez-Sureda V., Alvarez-Sala L.A., Arslan N., Bermejo N., Guerrero C., Perez de Soto I., Villalon L., Giraldo P., Pocovi M.
Clin. Genet. 84:356-361(2013) [PubMed] [Europe PMC] [Abstract]
Ranganath P., Matta D., Bhavani G.S., Wangnekar S., Jain J.M., Verma I.C., Kabra M., Puri R.D., Danda S., Gupta N., Girisha K.M., Sankar V.H., Patil S.J., Ramadevi A.R., Bhat M., Gowrishankar K., Mandal K., Aggarwal S. , Tamhankar P.M., Tilak P., Phadke S.R., Dalal A.
Am. J. Med. Genet. A 170:2719-2730(2016) [PubMed] [Europe PMC] [Abstract]
Zampieri S., Filocamo M., Pianta A., Lualdi S., Gort L., Coll M.J., Sinnott R., Geberhiwot T., Bembi B., Dardis A.
Hum. Mutat. 37:139-147(2016) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060877 | 184 | P → L in NPDA; reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068435 | 209 | W → R in NPDA; results in less than 0.5% of wild-type activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077311 | 214 | L → R in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075324 | 226 | C → R in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060883 | 228 | R → H in NPDA; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060885 | 241 | A → V in NPDA; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075325 | 245 | G → D in NPDA; severe decrease in activity; the mutant is highly unstable. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060888 | 246 | E → K in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060889 | 251 | D → E in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068436 | 251 | D → H in NPDA; results in loss of activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077312 | 253 | P → S in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060890 | 278 | D → A in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060893 | 292 | Q → K in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005060 | 302 | L → P in NPDA; in 23% of NPDA Ashkenazi Jewish patients; abolishes enzyme activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060895 | 313 | Y → H in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077314 | 317 | G → R in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015288 | 319 | H → Y in NPDA. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077316 | 322 | T → P in NPDA; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060898 | 341 | L → P in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077317 | 341 | L → R in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077318 | 361 | L → R in NPDA; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060900 | 367 | Y → C in NPDA. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075327 | 385 | C → R in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077319 | 389 | N → H in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005063 | 389 | N → T in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060904 | 390 | Missing in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077320 | 391 | W → R in NPDA; intermediate form. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060906 | 421 | H → R in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077321 | 424 | G → S in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_011388 | 446 | Y → C in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060910 | 450 | L → P in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015291 | 463 | F → S in NPDA. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060913 | 467 | Y → S in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075329 | 480 | Missing in NPDA; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060916 | 482 | A → E in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077322 | 492 | N → I in NPDA; intermediate form. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060922 | 496 | R → H in NPDA. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005066 | 496 | R → L in NPDA; in 32% of NPDA Ashkenazi Jewish patients; nearly abolishes enzyme activity. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060926 | 517 | Y → C in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015293 | 537 | Y → H in NPDA. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075331 | 570 | F → L in NPDA; results in decreased activity; decreased stability. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005067 | 577 | G → S in NPDA; impairs enzyme activity; also in patients with an intermediate form. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060931 | 592 | Missing in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Niemann-Pick disease B (NPDB)24 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.12"Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency."
Acuna M., Castro-Fernandez V., Latorre M., Castro J., Schuchman E.H., Guixe V., Gonzalez M., Zanlungo S.
Biochem. Biophys. Res. Commun. 479:496-501(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT NPDB ASP-357. - Ref.13"Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B."
Acuna M., Martinez P., Moraga C., He X., Moraga M., Hunter B., Nuernberg P., Gutierrez R.A., Gonzalez M., Schuchman E.H., Santos J.L., Miquel J.F., Mabe P., Zanlungo S.
Eur. J. Hum. Genet. 24:208-213(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT NPDB ASP-357, CHARACTERIZATION OF VARIANT NPDB ASP-357. - Ref.18"Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients."
Levran O., Desnick R.J., Schuchman E.H.
J. Clin. Invest. 88:806-810(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDB ARG-608 DEL. - Ref.20"Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease."
Takahashi T., Desnick R.J., Takada G., Schuchman E.H.
Hum. Mutat. 1:70-71(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDB ARG-436. - Ref.21"Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms."
Takahashi T., Suchi M., Desnick R.J., Takada G., Schuchman E.H.
J. Biol. Chem. 267:12552-12558(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDA ILE-382, VARIANTS NPDB ARG-242 AND SER-383. - Ref.22"A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate."
Sperl W., Bart G., Vanier M.T., Christomanou H., Baldissera I., Steichensdorf E., Paschke E.
J. Inherit. Metab. Dis. 17:93-103(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDB GLY-391. - Ref.25"Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B."
Ida H., Rennert O.M., Maekawa K., Eto Y.
Hum. Mutat. 7:65-67(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDB GLN-246. - Ref.27"The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations."
Simonaro C.M., Desnick R.J., McGovern M.M., Wasserstein M.P., Schuchman E.H.
Am. J. Hum. Genet. 71:1413-1419(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDB VAL-49; TRP-92; PRO-137; ARG-157; PRO-196; CYS-200; MET-225; CYS-228; ASP-232; SER-245; ARG-248; HIS-289; ALA-323; ARG-330; ASP-357; HIS-376; LEU-376; PRO-379; VAL-413; TYR-421; ARG-431; PRO-432; CYS-435; VAL-452; ASP-456; TRP-474; LEU-475; LEU-480; ASN-488; SER-494; CYS-496; GLN-514; VAL-515; ARG-533; PRO-549; ASN-576; HIS-600 AND PRO-600, VARIANT VAL-485. - Ref.28"Seven novel Acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients."
Sikora J., Pavluu-Pereira H., Elleder M., Roelofs H., Wevers R.A.
Ann. Hum. Genet. 67:63-70(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA ARG-248; TYR-319; SER-463; LEU-475 AND HIS-537, VARIANTS NPDB SER-371 AND ARG-608 DEL. - Ref.30"Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon."
Pittis M.G., Ricci V., Guerci V.I., Marcais C., Ciana G., Dardis A., Gerin F., Stroppiano M., Vanier M.T., Filocamo M., Bembi B.
Hum. Mutat. 24:186-187(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDB PRO-103; PRO-225; CYS-244; THR-281; LYS-292 AND ILE-382. - Ref.31"Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick type B disease."
Dardis A., Zampieri S., Filocamo M., Burlina A., Bembi B., Pittis M.G.
Hum. Mutat. 26:164-164(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDB ALA-130 AND TYR-563, CHARACTERIZATION OF VARIANTS NPDB PRO-103; ALA-130; PRO-225; CYS-244; THR-281; TYR-563; HIS-600 AND PRO-600. - Ref.33"Clinical findings in Niemann-Pick disease type B."
Muessig K., Harzer K., Mayrhofer H., Kraegeloh-Mann I., Haering H.-U., Machicao F.
Intern. Med. J. 36:135-136(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDB ARG-166 AND ASN-176, VARIANT GLY-505. - Ref.34"Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models."
Jones I., He X., Katouzian F., Darroch P.I., Schuchman E.H.
Mol. Genet. Metab. 95:152-162(2008) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS NPDA PRO-302 AND LEU-496, CHARACTERIZATION OF VARIANTS NPDB TYR-421 AND ARG-608 DEL, FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY. - Ref.35"A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease."
Lan M.Y., Lin S.J., Chen Y.F., Peng C.H., Liu Y.F.
Ann. Hematol. 88:695-697(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDB ARG-330 AND ASP-451. - Ref.36"Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients."
Rodriguez-Pascau L., Gort L., Schuchman E.H., Vilageliu L., Grinberg D., Chabas A.
Hum. Mutat. 30:1117-1122(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA SER-245; CYS-367; PHE-390 DEL; ARG-421; SER-467; GLU-482 AND THR-592 DEL, VARIANTS NPDB CYS-228; HIS-376; TRP-474; ALA-486 AND ARG-608 DEL. - Ref.37"Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease."
Desnick J.P., Kim J., He X., Wasserstein M.P., Simonaro C.M., Schuchman E.H.
Mol. Med. 16:316-321(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA ARG-209 AND HIS-251, VARIANTS NPDB MET-312; ARG-425 AND HIS-523, CHARACTERIZATION OF VARIANTS NPDA ARG-209 AND HIS-251, CHARACTERIZATION OF VARIANTS NPDB MET-312; ARG-425 AND HIS-523. - Ref.38"PAS-positive macrophages--not always infection."
Meersseman W., Verschueren P., Tousseyn T., De Vos R., Cassiman D.
Lancet 377:1890-1890(2011) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPDB PRO-161. - Ref.41"Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients."
Hollak C.E., de Sonnaville E.S., Cassiman D., Linthorst G.E., Groener J.E., Morava E., Wevers R.A., Mannens M., Aerts J.M., Meersseman W., Akkerman E., Niezen-Koning K.E., Mulder M.F., Visser G., Wijburg F.A., Lefeber D., Poorthuis B.J.
Mol. Genet. Metab. 107:526-533(2012) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDB HIS-89; PRO-103; PRO-161; CYS-228; SER-371; PRO-549 AND ARG-608 DEL, VARIANTS NPDA ARG-248; SER-463; LEU-475 AND HIS-537. - Ref.42"Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B."
Irun P., Mallen M., Dominguez C., Rodriguez-Sureda V., Alvarez-Sala L.A., Arslan N., Bermejo N., Guerrero C., Perez de Soto I., Villalon L., Giraldo P., Pocovi M.
Clin. Genet. 84:356-361(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDA ARG-226 AND ARG-385, VARIANTS NPDB CYS-228; SER-245; HIS-376; TRP-474; SER-490; PHE-597 AND ARG-608 DEL. - Ref.43"The acid sphingomyelinase sequence variant p.A487V is not associated with decreased levels of enzymatic activity."
Rhein C., Naumann J., Muehle C., Zill P., Adli M., Hegerl U., Hiemke C., Mergl R., Moeller H.J., Reichel M., Kornhuber J.
JIMD Rep. 8:1-6(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT NPDB ALA-323, CHARACTERIZATION OF VARIANT VAL-485. - Ref.44"Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease."
Ranganath P., Matta D., Bhavani G.S., Wangnekar S., Jain J.M., Verma I.C., Kabra M., Puri R.D., Danda S., Gupta N., Girisha K.M., Sankar V.H., Patil S.J., Ramadevi A.R., Bhat M., Gowrishankar K., Mandal K., Aggarwal S. , Tamhankar P.M., Tilak P., Phadke S.R., Dalal A.
Am. J. Med. Genet. A 170:2719-2730(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS ALA-36; PHE-508 AND GLY-603, VARIANTS NPDA ARG-214; CYS-228; SER-253; ARG-317; PRO-322; ARG-341; ARG-361; HIS-389; ARG-391; SER-424; ILE-492; HIS-496; ARG-533 AND HIS-600, VARIANTS NPDB PRO-103; PHE-280; ASP-318; CYS-367; SER-463; LEU-518 AND LYS-547. - Ref.45"SMPD1 mutation update: database and comprehensive analysis of published and novel variants."
Zampieri S., Filocamo M., Pianta A., Lualdi S., Gort L., Coll M.J., Sinnott R., Geberhiwot T., Bembi B., Dardis A.
Hum. Mutat. 37:139-147(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPDB ILE-256; GLN-474; ASP-575; ARG-596 AND CYS-608, VARIANT NPDA PHE-480 DEL, REVIEW ON VARIANTS. - Ref.46"Alleged detrimental mutations in the SMPD1 gene in patients with Niemann-Pick disease."
Rhein C., Muehle C., Kornhuber J., Reichel M.
Int. J. Mol. Sci. 16:13649-13652(2015) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANT NPDB ALA-323, CHARACTERIZATION OF VARIANTS ALA-36; VAL-485 AND ARG-506, CATALYTIC ACTIVITY.
Acuna M., Castro-Fernandez V., Latorre M., Castro J., Schuchman E.H., Guixe V., Gonzalez M., Zanlungo S.
Biochem. Biophys. Res. Commun. 479:496-501(2016) [PubMed] [Europe PMC] [Abstract]
Acuna M., Martinez P., Moraga C., He X., Moraga M., Hunter B., Nuernberg P., Gutierrez R.A., Gonzalez M., Schuchman E.H., Santos J.L., Miquel J.F., Mabe P., Zanlungo S.
Eur. J. Hum. Genet. 24:208-213(2016) [PubMed] [Europe PMC] [Abstract]
Levran O., Desnick R.J., Schuchman E.H.
J. Clin. Invest. 88:806-810(1991) [PubMed] [Europe PMC] [Abstract]
Takahashi T., Desnick R.J., Takada G., Schuchman E.H.
Hum. Mutat. 1:70-71(1992) [PubMed] [Europe PMC] [Abstract]
Takahashi T., Suchi M., Desnick R.J., Takada G., Schuchman E.H.
J. Biol. Chem. 267:12552-12558(1992) [PubMed] [Europe PMC] [Abstract]
Sperl W., Bart G., Vanier M.T., Christomanou H., Baldissera I., Steichensdorf E., Paschke E.
J. Inherit. Metab. Dis. 17:93-103(1994) [PubMed] [Europe PMC] [Abstract]
Ida H., Rennert O.M., Maekawa K., Eto Y.
Hum. Mutat. 7:65-67(1996) [PubMed] [Europe PMC] [Abstract]
Simonaro C.M., Desnick R.J., McGovern M.M., Wasserstein M.P., Schuchman E.H.
Am. J. Hum. Genet. 71:1413-1419(2002) [PubMed] [Europe PMC] [Abstract]
Sikora J., Pavluu-Pereira H., Elleder M., Roelofs H., Wevers R.A.
Ann. Hum. Genet. 67:63-70(2003) [PubMed] [Europe PMC] [Abstract]
Pittis M.G., Ricci V., Guerci V.I., Marcais C., Ciana G., Dardis A., Gerin F., Stroppiano M., Vanier M.T., Filocamo M., Bembi B.
Hum. Mutat. 24:186-187(2004) [PubMed] [Europe PMC] [Abstract]
Dardis A., Zampieri S., Filocamo M., Burlina A., Bembi B., Pittis M.G.
Hum. Mutat. 26:164-164(2005) [PubMed] [Europe PMC] [Abstract]
Muessig K., Harzer K., Mayrhofer H., Kraegeloh-Mann I., Haering H.-U., Machicao F.
Intern. Med. J. 36:135-136(2006) [PubMed] [Europe PMC] [Abstract]
Jones I., He X., Katouzian F., Darroch P.I., Schuchman E.H.
Mol. Genet. Metab. 95:152-162(2008) [PubMed] [Europe PMC] [Abstract]
Lan M.Y., Lin S.J., Chen Y.F., Peng C.H., Liu Y.F.
Ann. Hematol. 88:695-697(2009) [PubMed] [Europe PMC] [Abstract]
Rodriguez-Pascau L., Gort L., Schuchman E.H., Vilageliu L., Grinberg D., Chabas A.
Hum. Mutat. 30:1117-1122(2009) [PubMed] [Europe PMC] [Abstract]
Desnick J.P., Kim J., He X., Wasserstein M.P., Simonaro C.M., Schuchman E.H.
Mol. Med. 16:316-321(2010) [PubMed] [Europe PMC] [Abstract]
Meersseman W., Verschueren P., Tousseyn T., De Vos R., Cassiman D.
Lancet 377:1890-1890(2011) [PubMed] [Europe PMC] [Abstract]
Hollak C.E., de Sonnaville E.S., Cassiman D., Linthorst G.E., Groener J.E., Morava E., Wevers R.A., Mannens M., Aerts J.M., Meersseman W., Akkerman E., Niezen-Koning K.E., Mulder M.F., Visser G., Wijburg F.A., Lefeber D., Poorthuis B.J.
Mol. Genet. Metab. 107:526-533(2012) [PubMed] [Europe PMC] [Abstract]
Irun P., Mallen M., Dominguez C., Rodriguez-Sureda V., Alvarez-Sala L.A., Arslan N., Bermejo N., Guerrero C., Perez de Soto I., Villalon L., Giraldo P., Pocovi M.
Clin. Genet. 84:356-361(2013) [PubMed] [Europe PMC] [Abstract]
Rhein C., Naumann J., Muehle C., Zill P., Adli M., Hegerl U., Hiemke C., Mergl R., Moeller H.J., Reichel M., Kornhuber J.
JIMD Rep. 8:1-6(2013) [PubMed] [Europe PMC] [Abstract]
Ranganath P., Matta D., Bhavani G.S., Wangnekar S., Jain J.M., Verma I.C., Kabra M., Puri R.D., Danda S., Gupta N., Girisha K.M., Sankar V.H., Patil S.J., Ramadevi A.R., Bhat M., Gowrishankar K., Mandal K., Aggarwal S. , Tamhankar P.M., Tilak P., Phadke S.R., Dalal A.
Am. J. Med. Genet. A 170:2719-2730(2016) [PubMed] [Europe PMC] [Abstract]
Zampieri S., Filocamo M., Pianta A., Lualdi S., Gort L., Coll M.J., Sinnott R., Geberhiwot T., Bembi B., Dardis A.
Hum. Mutat. 37:139-147(2016) [PubMed] [Europe PMC] [Abstract]
Rhein C., Muehle C., Kornhuber J., Reichel M.
Int. J. Mol. Sci. 16:13649-13652(2015) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060870 | 49 | D → V in NPDB; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075322 | 89 | C → H in NPDB; requires 2 nucleotide substitutions. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060871 | 92 | C → W in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060873 | 130 | V → A in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 13% residual enzyme activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060874 | 137 | L → P in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_011387 | 157 | C → R in NPDB. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075323 | 161 | L → P in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060875 | 166 | G → R in NPDB; also in patients with an intermediate form. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060876 | 176 | I → N in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060878 | 196 | A → P in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060879 | 200 | R → C in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060880 | 225 | L → M in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060881 | 225 | L → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060884 | 232 | G → D in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005058 | 242 | G → R in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060886 | 244 | W → C in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005059 | 246 | E → Q in NPDB; 30% residual activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075326 | 256 | T → I in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077313 | 280 | P → F in NPDB; requires 2 nucleotide substitutions. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060891 | 281 | A → T in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060892 | 289 | R → H in NPDB; also in patients with an intermediate form; unknown pathological significance. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068437 | 312 | V → M in NPDB; results in 20% of wild-type activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077315 | 318 | N → D in NPDB; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060896 | 323 | P → A in NPDB; results in 1-4% of wild type activity. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060897 | 330 | P → R in NPDB. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060899 | 357 | A → D in NPDB; sphingomyelinase activity is decreased to 4% of wild-type activity; no effect on protein abundance; no effect on protein localization to lysosome; no effect on protein localization to extracellular space. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015289 | 371 | P → S in NPDB. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060901 | 376 | R → H in NPDB; reduces enzyme activity; some patients have a NPDA/NPDB intermediate phenotype. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060902 | 376 | R → L in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060903 | 379 | S → P in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005062 | 383 | N → S in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005064 | 391 | W → G in NPDB; low sphingomyelin degradation rates. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060905 | 413 | A → V in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015290 | 421 | H → Y in NPDB; abolishes enzyme activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068438 | 425 | H → R in NPDB; results in loss of activity; the patient also carries mutation H-228 that has sufficient activity to account for the Niemann-Pick disease type B phenotype. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060907 | 431 | C → R in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060908 | 432 | L → P in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060909 | 435 | W → C in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005065 | 436 | S → R in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068439 | 451 | A → D in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060911 | 452 | A → V in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060912 | 456 | G → D in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075328 | 474 | R → Q in NPDB; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060914 | 474 | R → W in NPDB; some patients have a NPDA/NPDB intermediate phenotype. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060915 | 480 | F → L in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060918 | 486 | T → A in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060919 | 488 | Y → N in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075330 | 490 | G → S in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060920 | 494 | G → S in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060921 | 496 | R → C in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060924 | 514 | H → Q in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060925 | 515 | E → V in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077324 | 518 | I → L in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068440 | 520 | N → S in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068441 | 523 | Q → H in NPDB; results in 64% of wild-type activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077325 | 547 | N → K in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060928 | 549 | L → P in NPDB. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060929 | 563 | D → Y in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 6.8% residual enzyme activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075332 | 575 | H → D in NPDB; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060930 | 576 | K → N in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075333 | 596 | Q → R in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075334 | 597 | L → F in NPDB; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060933 | 600 | R → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075335 | 608 | R → C in NPDB; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005068 | 608 | Missing in NPDB; nearly abolishes enzyme activity; some patients have a NPDA/NPDB intermediate phenotype. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Disease mutation, Neurodegeneration, Niemann-Pick diseaseOrganism-specific databases
DisGeNET More...DisGeNETi | 6609 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | SMPD1 |
MalaCards human disease database More...MalaCardsi | SMPD1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 257200 phenotype 607616 phenotype |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 77292 Niemann-Pick disease type A 77293 Niemann-Pick disease type B |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA35969 |
Chemistry databases
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL2760 |
Drug and drug target database More...DrugBanki | DB00381 Amlodipine DB00477 Chlorpromazine DB01151 Desipramine |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | SMPD1 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 224471897 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei | 1 – 46 | Add BLAST | 46 | |
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000002323 | 47 – 629 | Sphingomyelin phosphodiesteraseAdd BLAST | 583 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi | 86 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 89 ↔ 165 | PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| ||
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 92 ↔ 157 | PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| ||
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 120 ↔ 131 | PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| ||
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi | 175 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 221 ↔ 226 | PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| ||
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 227 ↔ 250 | PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| ||
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi | 335 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 385 ↔ 431 | PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| ||
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi | 395 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi | 503 | N-linked (GlcNAc...) asparagineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi | 520 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 584 ↔ 588 | PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| ||
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 594 ↔ 607 | PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sources<p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
|
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MaxQB - The MaxQuant DataBase More...MaxQBi | P17405 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | P17405 |
PeptideAtlas More...PeptideAtlasi | P17405 |
PRoteomics IDEntifications database More...PRIDEi | P17405 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 53470 53471 [P17405-2] 53472 [P17405-3] |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | P17405 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | P17405 |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000166311 |
CleanEx database of gene expression profiles More...CleanExi | HS_SMPD1 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | P17405 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | P17405 HS |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.14"Structure of human acid sphingomyelinase reveals the role of the saposin domain in activating substrate hydrolysis."
Xiong Z.J., Huang J., Poda G., Pomes R., Prive G.G.
J. Mol. Biol. 428:3026-3042(2016) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (2.80 ANGSTROMS) OF 47-629 OF MUTANT SER-629 IN COMPLEX WITH ZINC, CATALYTIC ACTIVITY, GLYCOSYLATION AT ASN-86; ASN-175; ASN-335; ASN-395; ASN-503 AND ASN-520, DISULFIDE BONDS, SUBUNIT.
<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi
| With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CASP7 | P55210 | 6 | EBI-7095800,EBI-523958 |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 112493, 14 interactors |
Protein interaction database and analysis system More...IntActi | P17405, 7 interactors |
Molecular INTeraction database More...MINTi | P17405 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000340409 |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | P17405 |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
Secondary structure
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 85 – 87 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 88 – 103 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 16 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 106 – 122 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 17 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 128 – 148 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 21 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code ‘T’.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 149 – 151 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 153 – 161 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 9 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code ‘T’.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 163 – 165 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 198 – 204 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 7 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 222 – 225 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 247 – 249 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 254 – 262 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 9 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 265 – 267 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 271 – 275 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 289 – 307 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 19 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 312 – 314 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 320 – 323 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 334 – 338 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 339 – 348 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 10 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code ‘T’.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 350 – 352 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 355 – 364 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 10 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 367 – 372 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 375 – 379 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 382 – 385 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 390 – 393 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 399 – 401 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 402 – 416 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 15 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 419 – 423 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 428 – 430 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 433 – 445 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 13 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code ‘T’.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 446 – 449 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 450 – 455 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 462 – 467 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code ‘T’.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 469 – 471 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 474 – 481 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code ‘T’.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 488 – 490 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 494 – 501 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 511 – 518 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 521 – 524 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 534 – 538 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 539 – 543 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 550 – 561 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 12 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 564 – 574 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 11 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code ‘T’.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 575 – 577 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 586 – 597 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 12 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 600 – 602 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 604 – 607 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code ‘T’.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 608 – 610 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | P17405 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | P17405 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Domains and Repeats
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini | 85 – 169 | Saposin B-typePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 85 |
<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini
SignalPhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG3770 Eukaryota ENOG410YYPB LUCA |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG004288 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | P17405 |
KEGG Orthology (KO) More...KOi | K12350 |
Database of Orthologous Groups More...OrthoDBi | EOG091G03M6 |
Database for complete collections of gene phylogenies More...PhylomeDBi | P17405 |
TreeFam database of animal gene trees More...TreeFami | TF313674 |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 3.60.21.10, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR004843 Calcineurin-like_PHP_ApaH IPR029052 Metallo-depent_PP-like IPR011001 Saposin-like IPR008139 SaposinB_dom IPR011160 Sphingomy_PDE |
Pfam protein domain database More...Pfami | View protein in Pfam PF00149 Metallophos, 1 hit |
PIRSF; a whole-protein classification database More...PIRSFi | PIRSF000948 Sphingomy_PDE, 1 hit |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM00741 SapB, 1 hit |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF47862 SSF47862, 1 hit |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS50015 SAP_B, 1 hit |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.
This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basketAdded to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MPRYGASLRQ SCPRSGREQG QDGTAGAPGL LWMGLVLALA LALALALSDS
60 70 80 90 100
RVLWAPAEAH PLSPQGHPAR LHRIVPRLRD VFGWGNLTCP ICKGLFTAIN
110 120 130 140 150
LGLKKEPNVA RVGSVAIKLC NLLKIAPPAV CQSIVHLFED DMVEVWRRSV
160 170 180 190 200
LSPSEACGLL LGSTCGHWDI FSSWNISLPT VPKPPPKPPS PPAPGAPVSR
210 220 230 240 250
ILFLTDLHWD HDYLEGTDPD CADPLCCRRG SGLPPASRPG AGYWGEYSKC
260 270 280 290 300
DLPLRTLESL LSGLGPAGPF DMVYWTGDIP AHDVWHQTRQ DQLRALTTVT
310 320 330 340 350
ALVRKFLGPV PVYPAVGNHE STPVNSFPPP FIEGNHSSRW LYEAMAKAWE
360 370 380 390 400
PWLPAEALRT LRIGGFYALS PYPGLRLISL NMNFCSRENF WLLINSTDPA
410 420 430 440 450
GQLQWLVGEL QAAEDRGDKV HIIGHIPPGH CLKSWSWNYY RIVARYENTL
460 470 480 490 500
AAQFFGHTHV DEFEVFYDEE TLSRPLAVAF LAPSATTYIG LNPGYRVYQI
510 520 530 540 550
DGNYSGSSHV VLDHETYILN LTQANIPGAI PHWQLLYRAR ETYGLPNTLP
560 570 580 590 600
TAWHNLVYRM RGDMQLFQTF WFLYHKGHPP SEPCGTPCRL ATLCAQLSAR
610 620
ADSPALCRHL MPDGSLPEAQ SLWPRPLFC
The sequence of this isoform differs from the canonical sequence as follows:
363-374: IGGFYALSPYPG → YLSSVETQEGKR
375-418: Missing.
10 20 30 40 50
MPRYGASLRQ SCPRSGREQG QDGTAGAPGL LWMGLVLALA LALALALSDS
60 70 80 90 100
RVLWAPAEAH PLSPQGHPAR LHRIVPRLRD VFGWGNLTCP ICKGLFTAIN
110 120 130 140 150
LGLKKEPNVA RVGSVAIKLC NLLKIAPPAV CQSIVHLFED DMVEVWRRSV
160 170 180 190 200
LSPSEACGLL LGSTCGHWDI FSSWNISLPT VPKPPPKPPS PPAPGAPVSR
210 220 230 240 250
ILFLTDLHWD HDYLEGTDPD CADPLCCRRG SGLPPASRPG AGYWGEYSKC
260 270 280 290 300
DLPLRTLESL LSGLGPAGPF DMVYWTGDIP AHDVWHQTRQ DQLRALTTVT
310 320 330 340 350
ALVRKFLGPV PVYPAVGNHE STPVNSFPPP FIEGNHSSRW LYEAMAKAWE
360 370 380 390 400
PWLPAEALRT LRYLSSVETQ EGKRKVHIIG HIPPGHCLKS WSWNYYRIVA
410 420 430 440 450
RYENTLAAQF FGHTHVDEFE VFYDEETLSR PLAVAFLAPS ATTYIGLNPG
460 470 480 490 500
YRVYQIDGNY SGSSHVVLDH ETYILNLTQA NIPGAIPHWQ LLYRARETYG
510 520 530 540 550
LPNTLPTAWH NLVYRMRGDM QLFQTFWFLY HKGHPPSEPC GTPCRLATLC
560 570 580
AQLSARADSP ALCRHLMPDG SLPEAQSLWP RPLFC
The sequence of this isoform differs from the canonical sequence as follows:
363-418: Missing.
10 20 30 40 50
MPRYGASLRQ SCPRSGREQG QDGTAGAPGL LWMGLVLALA LALALALSDS
60 70 80 90 100
RVLWAPAEAH PLSPQGHPAR LHRIVPRLRD VFGWGNLTCP ICKGLFTAIN
110 120 130 140 150
LGLKKEPNVA RVGSVAIKLC NLLKIAPPAV CQSIVHLFED DMVEVWRRSV
160 170 180 190 200
LSPSEACGLL LGSTCGHWDI FSSWNISLPT VPKPPPKPPS PPAPGAPVSR
210 220 230 240 250
ILFLTDLHWD HDYLEGTDPD CADPLCCRRG SGLPPASRPG AGYWGEYSKC
260 270 280 290 300
DLPLRTLESL LSGLGPAGPF DMVYWTGDIP AHDVWHQTRQ DQLRALTTVT
310 320 330 340 350
ALVRKFLGPV PVYPAVGNHE STPVNSFPPP FIEGNHSSRW LYEAMAKAWE
360 370 380 390 400
PWLPAEALRT LRKVHIIGHI PPGHCLKSWS WNYYRIVARY ENTLAAQFFG
410 420 430 440 450
HTHVDEFEVF YDEETLSRPL AVAFLAPSAT TYIGLNPGYR VYQIDGNYSG
460 470 480 490 500
SSHVVLDHET YILNLTQANI PGAIPHWQLL YRARETYGLP NTLPTAWHNL
510 520 530 540 550
VYRMRGDMQL FQTFWFLYHK GHPPSEPCGT PCRLATLCAQ LSARADSPAL
560 570
CRHLMPDGSL PEAQSLWPRP LFC
The sequence of this isoform differs from the canonical sequence as follows:
104-104: Missing.
10 20 30 40 50
MPRYGASLRQ SCPRSGREQG QDGTAGAPGL LWMGLVLALA LALALALSDS
60 70 80 90 100
RVLWAPAEAH PLSPQGHPAR LHRIVPRLRD VFGWGNLTCP ICKGLFTAIN
110 120 130 140 150
LGLKEPNVAR VGSVAIKLCN LLKIAPPAVC QSIVHLFEDD MVEVWRRSVL
160 170 180 190 200
SPSEACGLLL GSTCGHWDIF SSWNISLPTV PKPPPKPPSP PAPGAPVSRI
210 220 230 240 250
LFLTDLHWDH DYLEGTDPDC ADPLCCRRGS GLPPASRPGA GYWGEYSKCD
260 270 280 290 300
LPLRTLESLL SGLGPAGPFD MVYWTGDIPA HDVWHQTRQD QLRALTTVTA
310 320 330 340 350
LVRKFLGPVP VYPAVGNHES TPVNSFPPPF IEGNHSSRWL YEAMAKAWEP
360 370 380 390 400
WLPAEALRTL RIGGFYALSP YPGLRLISLN MNFCSRENFW LLINSTDPAG
410 420 430 440 450
QLQWLVGELQ AAEDRGDKVH IIGHIPPGHC LKSWSWNYYR IVARYENTLA
460 470 480 490 500
AQFFGHTHVD EFEVFYDEET LSRPLAVAFL APSATTYIGL NPGYRVYQID
510 520 530 540 550
GNYSGSSHVV LDHETYILNL TQANIPGAIP HWQLLYRARE TYGLPNTLPT
560 570 580 590 600
AWHNLVYRMR GDMQLFQTFW FLYHKGHPPS EPCGTPCRLA TLCAQLSARA
610 620
DSPALCRHLM PDGSLPEAQS LWPRPLFC
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 35 – 36 | Missing in CAA42584 (PubMed:8407868).Curated | 2 | |
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 268 | G → D in BAF85077 (PubMed:14702039).Curated | 1 |
<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_038191 | 36 | V → A Polymorphism; does not affect enzymatic activity. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060870 | 49 | D → V in NPDB; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075322 | 89 | C → H in NPDB; requires 2 nucleotide substitutions. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060871 | 92 | C → W in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060872 | 103 | L → P in NPDA and NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060873 | 130 | V → A in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 13% residual enzyme activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060874 | 137 | L → P in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_011387 | 157 | C → R in NPDB. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075323 | 161 | L → P in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060875 | 166 | G → R in NPDB; also in patients with an intermediate form. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060876 | 176 | I → N in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060877 | 184 | P → L in NPDA; reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060878 | 196 | A → P in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060879 | 200 | R → C in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068435 | 209 | W → R in NPDA; results in less than 0.5% of wild-type activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077311 | 214 | L → R in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060880 | 225 | L → M in NPDB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060881 | 225 | L → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075324 | 226 | C → R in NPDA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |