UniProtKB - P17405 (ASM_HUMAN)
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>sp|P17405|ASM_HUMAN Sphingomyelin phosphodiesterase OS=Homo sapiens OX=9606 GN=SMPD1 PE=1 SV=5 MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAE AHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIK LCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISL PTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASR PGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTT VTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEAL RTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGD KVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAV AFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYR ARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLS ARADSPALCRHLMPDGSLPEAQSLWPRPLFCCommunity curation ()Add a publicationFeedback
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 48-ALA-LEU-49 DEL; ILE-324 AND ARG-508. - 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-359. - 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-359, CHARACTERIZATION OF VARIANT NPDB ASP-359. - 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-304 AND LEU-498, CHARACTERIZATION OF VARIANTS NPDB TYR-423 AND ARG-610 DEL, FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY.
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 48-ALA-LEU-49 DEL; ILE-324 AND ARG-508.
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 48-ALA-LEU-49 DEL; ILE-324 AND ARG-508.
Miscellaneous
Caution
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-51; TRP-94; PRO-139; ARG-159; PRO-198; CYS-202; MET-227; CYS-230; ASP-234; SER-247; ARG-250; HIS-291; ALA-325; ARG-332; ASP-359; HIS-378; LEU-378; PRO-381; VAL-415; TYR-423; ARG-433; PRO-434; CYS-437; VAL-454; ASP-458; TRP-476; LEU-477; LEU-482; ASN-490; SER-496; CYS-498; GLN-516; VAL-517; ARG-535; PRO-551; ASN-578; HIS-602 AND PRO-602, VARIANT VAL-487. - 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-105; SER-247; LYS-248; HIS-315; PRO-452; LEU-477; LEU-498; HIS-498 AND CYS-519, VARIANT GLN-296. - 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-325, CHARACTERIZATION OF VARIANT VAL-487.
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi
- H2OEC:3.1.4.12
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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 48-ALA-LEU-49 DEL; ILE-324 AND ARG-508. - 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-631 IN COMPLEX WITH ZINC, CATALYTIC ACTIVITY, GLYCOSYLATION AT ASN-88; ASN-177; ASN-337; ASN-397; ASN-505 AND ASN-522, 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-579, CHARACTERIZATION OF VARIANT NPDA SER-579, 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-168; LEU-186; HIS-230; VAL-243; ARG-250; GLU-253; ALA-280; HIS-291; LYS-294; PRO-343; HIS-378; TRP-476; ARG-535 AND SER-579, VARIANT ARG-508, CATALYTIC ACTIVITY, CHARACTERIZATION OF VARIANTS NPDA LEU-186; GLU-253; ALA-280; LYS-294; PRO-343 AND HIS-378. - 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-304 AND LEU-498, CHARACTERIZATION OF VARIANTS NPDB TYR-423 AND ARG-610 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-325, CHARACTERIZATION OF VARIANTS ALA-36; VAL-487 AND ARG-508, CATALYTIC ACTIVITY.
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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 48-ALA-LEU-49 DEL; ILE-324 AND ARG-508. - 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-631 IN COMPLEX WITH ZINC, CATALYTIC ACTIVITY, GLYCOSYLATION AT ASN-88; ASN-177; ASN-337; ASN-397; ASN-505 AND ASN-522, 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-579, CHARACTERIZATION OF VARIANT NPDA SER-579, 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-168; LEU-186; HIS-230; VAL-243; ARG-250; GLU-253; ALA-280; HIS-291; LYS-294; PRO-343; HIS-378; TRP-476; ARG-535 AND SER-579, VARIANT ARG-508, CATALYTIC ACTIVITY, CHARACTERIZATION OF VARIANTS NPDA LEU-186; GLU-253; ALA-280; LYS-294; PRO-343 AND HIS-378. - 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-304 AND LEU-498, CHARACTERIZATION OF VARIANTS NPDB TYR-423 AND ARG-610 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-325, CHARACTERIZATION OF VARIANTS ALA-36; VAL-487 AND ARG-508, CATALYTIC ACTIVITY.
Source: Rhea- Search for this reaction in UniProtKB.
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+sphingomyelin- Search proteins in UniProtKB for this molecule.
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<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
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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.
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-631 IN COMPLEX WITH ZINC, CATALYTIC ACTIVITY, GLYCOSYLATION AT ASN-88; ASN-177; ASN-337; ASN-397; ASN-505 AND ASN-522, 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-88; ASN-177; ASN-337; ASN-397; ASN-505 AND ASN-522.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
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<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 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 PublicationManual assertion based on experiment ini
| 1 | |
Metal bindingi | 210 | Zinc 1; via tele nitrogenCombined sources Manual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| 1 | |
Metal bindingi | 280 | Zinc 1Combined sources Manual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| 1 | |
Metal bindingi | 280 | Zinc 2Combined sources Manual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| 1 | |
Metal bindingi | 320 | Zinc 2Combined sources Manual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| 1 | |
Metal bindingi | 427 | Zinc 2; via tele nitrogenCombined sources Manual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| 1 | |
Metal bindingi | 459 | Zinc 2; via pros nitrogenCombined sources Manual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| 1 | |
Metal bindingi | 461 | Zinc 1; via tele nitrogenCombined sources Manual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual 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%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p>
Inferred from direct assayi
- 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-304 AND LEU-498, CHARACTERIZATION OF VARIANTS NPDB TYR-423 AND ARG-610 DEL, FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY. - 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.
- hydrolase activity, acting on glycosyl bonds Source: UniProtKB-KW
- phosphoric diester hydrolase activity Source: GO_Central
<p>Inferred from Biological aspect of Ancestor</p>
<p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p>
Inferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- sphingomyelin phosphodiesterase activity Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- zinc ion binding Source: UniProtKBInferred from direct assayi
- 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.
GO - Biological processi
- ceramide biosynthetic process Source: UniProtKBInferred from direct assayi
- 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-304 AND LEU-498, CHARACTERIZATION OF VARIANTS NPDB TYR-423 AND ARG-610 DEL, FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY.
- cholesterol metabolic process Source: Ensembl
- 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%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p>
Inferred from mutant phenotypei
- "Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid."
Kitatani K., Sheldon K., Anelli V., Jenkins R.W., Sun Y., Grabowski G.A., Obeid L.M., Hannun Y.A.
J Biol Chem 284:12979-12988(2009) [PubMed] [Europe PMC] [Abstract]
- 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%2Dgo%2Devidence%2Dcodes#tas">GO evidence code guide</a></p>
Traceable author statementi
- "Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease."
Horinouchi K., Erlich S., Perl D.P., Ferlinz K., Bisgaier C.L., Sandhoff K., Desnick R.J., Stewart C.L., Schuchman E.H.
Nat Genet 10:288-293(1995) [PubMed] [Europe PMC] [Abstract]
- positive regulation of apoptotic process Source: Ensembl
- positive regulation of protein dephosphorylation Source: BHF-UCLInferred from mutant phenotypei
- "Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid."
Kitatani K., Sheldon K., Anelli V., Jenkins R.W., Sun Y., Grabowski G.A., Obeid L.M., Hannun Y.A.
J Biol Chem 284:12979-12988(2009) [PubMed] [Europe PMC] [Abstract]
- response to cocaine Source: Ensembl
- response to drug Source: Ensembl
- signal transduction Source: ProtIncTraceable author statementi
- "Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease."
Horinouchi K., Erlich S., Perl D.P., Ferlinz K., Bisgaier C.L., Sandhoff K., Desnick R.J., Stewart C.L., Schuchman E.H.
Nat Genet 10:288-293(1995) [PubMed] [Europe PMC] [Abstract]
- sphingomyelin catabolic process Source: UniProtKBInferred from direct assayi
- 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-304 AND LEU-498, CHARACTERIZATION OF VARIANTS NPDB TYR-423 AND ARG-610 DEL, FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY.
- sphingomyelin metabolic process Source: ProtIncTraceable author statementi
- "Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease."
Horinouchi K., Erlich S., Perl D.P., Ferlinz K., Bisgaier C.L., Sandhoff K., Desnick R.J., Stewart C.L., Schuchman E.H.
Nat Genet 10:288-293(1995) [PubMed] [Europe PMC] [Abstract]
- termination of signal transduction Source: BHF-UCLInferred from mutant phenotypei
- "Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid."
Kitatani K., Sheldon K., Anelli V., Jenkins R.W., Sun Y., Grabowski G.A., Obeid L.M., Hannun Y.A.
J Biol Chem 284:12979-12988(2009) [PubMed] [Europe PMC] [Abstract]
<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
Pathway Commons web resource for biological pathway data More...PathwayCommonsi | P17405 |
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%5Fand%5Ftaxonomy%5Fsection">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:3.1.4.12
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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 and Host 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
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-359. - 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-359, CHARACTERIZATION OF VARIANT NPDB ASP-359.
- Secreted 3 Publications
Lysosome
- Lysosome 2 Publications
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-359. - 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-304 AND LEU-498, CHARACTERIZATION OF VARIANTS NPDB TYR-423 AND ARG-610 DEL, FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY.
- Lysosome 2 Publications
Endosome
- endosome Source: UniProtKBInferred from direct assayi
- "Syntaxin 4 is required for acid sphingomyelinase activity and apoptotic function."
Perrotta C., Bizzozero L., Cazzato D., Morlacchi S., Assi E., Simbari F., Zhang Y., Gulbins E., Bassi M.T., Rosa P., Clementi E.
J Biol Chem 285:40240-40251(2010) [PubMed] [Europe PMC] [Abstract]
- endosome Source: UniProtKBInferred from direct assayi
Extracellular region or secreted
- extracellular exosome Source: UniProtKBInferred from high throughput direct assayi
- "In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine."
Principe S., Jones E.E., Kim Y., Sinha A., Nyalwidhe J.O., Brooks J., Semmes O.J., Troyer D.A., Lance R.S., Kislinger T., Drake R.R.
Proteomics 13:1667-1671(2013) [PubMed] [Europe PMC] [Abstract]
- extracellular space Source: UniProtKBInferred from direct assayi
- 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-359. - 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.
- extracellular exosome Source: UniProtKBInferred from high throughput direct assayi
Lysosome
- lysosomal lumen Source: Reactome
- lysosome Source: UniProtKBInferred from direct assayi
- 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-304 AND LEU-498, CHARACTERIZATION OF VARIANTS NPDB TYR-423 AND ARG-610 DEL, FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY. - "Syntaxin 4 is required for acid sphingomyelinase activity and apoptotic function."
Perrotta C., Bizzozero L., Cazzato D., Morlacchi S., Assi E., Simbari F., Zhang Y., Gulbins E., Bassi M.T., Rosa P., Clementi E.
J Biol Chem 285:40240-40251(2010) [PubMed] [Europe PMC] [Abstract] - 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-359.
Plasma Membrane
- plasma membrane Source: UniProtKBInferred from direct assayi
- "Syntaxin 4 is required for acid sphingomyelinase activity and apoptotic function."
Perrotta C., Bizzozero L., Cazzato D., Morlacchi S., Assi E., Simbari F., Zhang Y., Gulbins E., Bassi M.T., Rosa P., Clementi E.
J Biol Chem 285:40240-40251(2010) [PubMed] [Europe PMC] [Abstract]
- plasma membrane Source: UniProtKBInferred from direct assayi
Other locations
- lamellar body Source: Ensembl
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 PublicationsManual 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-579, CHARACTERIZATION OF VARIANT NPDA SER-579, 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-498. - 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-304. - 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-384, VARIANTS NPDB ARG-244 AND SER-385. - 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-391. - 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-448. - 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-294 AND PRO-343. - 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-250; TYR-321; SER-465; LEU-477 AND HIS-539, VARIANTS NPDB SER-373 AND ARG-610 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-105; SER-247; LYS-248; HIS-315; PRO-452; LEU-477; LEU-498; HIS-498 AND CYS-519, VARIANT GLN-296. - 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-168; LEU-186; HIS-230; VAL-243; ARG-250; GLU-253; ALA-280; HIS-291; LYS-294; PRO-343; HIS-378; TRP-476; ARG-535 AND SER-579, VARIANT ARG-508, CATALYTIC ACTIVITY, CHARACTERIZATION OF VARIANTS NPDA LEU-186; GLU-253; ALA-280; LYS-294; PRO-343 AND HIS-378. - 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-304 AND LEU-498, CHARACTERIZATION OF VARIANTS NPDB TYR-423 AND ARG-610 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-247; CYS-369; PHE-392 DEL; ARG-423; SER-469; GLU-484 AND THR-594 DEL, VARIANTS NPDB CYS-230; HIS-378; TRP-476; ALA-488 AND ARG-610 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-211 AND HIS-253, VARIANTS NPDB MET-314; ARG-427 AND HIS-525, CHARACTERIZATION OF VARIANTS NPDA ARG-211 AND HIS-253, CHARACTERIZATION OF VARIANTS NPDB MET-314; ARG-427 AND HIS-525. - 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-247 AND LEU-572, CHARACTERIZATION OF VARIANTS NPDA ASP-247 AND LEU-572. - 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-91; PRO-105; PRO-163; CYS-230; SER-373; PRO-551 AND ARG-610 DEL, VARIANTS NPDA ARG-250; SER-465; LEU-477 AND HIS-539. - 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-228 AND ARG-387, VARIANTS NPDB CYS-230; SER-247; HIS-378; TRP-476; SER-492; PHE-599 AND ARG-610 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-510 AND GLY-605, VARIANTS NPDA ARG-216; CYS-230; SER-255; ARG-319; PRO-324; ARG-343; ARG-363; HIS-391; ARG-393; SER-426; ILE-494; HIS-498; ARG-535 AND HIS-602, VARIANTS NPDB PRO-105; PHE-282; ASP-320; CYS-369; SER-465; LEU-520 AND LYS-549. - 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-258; GLN-476; ASP-577; ARG-598 AND CYS-610, VARIANT NPDA PHE-482 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_060872 | 105 | L → P in NPDA and NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 5 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060877 | 186 | P → L in NPDA; reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_068435 | 211 | W → R in NPDA; results in less than 0.5% of wild-type activity. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077311 | 216 | L → R in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075324 | 228 | C → R in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060882 | 230 | R → C in NPDB and NPDA; some patients have a NPDA/NPDB intermediate phenotype. 5 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060883 | 230 | R → H in NPDA; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060885 | 243 | A → V in NPDA; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075325 | 247 | G → D in NPDA; severe decrease in activity; the mutant is highly unstable. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060887 | 247 | G → S in NPDA and NPDB. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060888 | 248 | E → K in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_015287 | 250 | S → R in NPDA and NPDB; also found in patients with an intermediate form. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060889 | 253 | D → E in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_068436 | 253 | D → H in NPDA; results in loss of activity. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077312 | 255 | P → S in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060890 | 280 | D → A in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060893 | 294 | Q → K in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005060 | 304 | L → P in NPDA; in 23% of NPDA Ashkenazi Jewish patients; abolishes enzyme activity. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060895 | 315 | Y → H in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077314 | 319 | G → R in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_015288 | 321 | H → Y in NPDA. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077316 | 324 | T → P in NPDA; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060898 | 343 | L → P in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann-Pick disease types A and B. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077317 | 343 | L → R in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077318 | 363 | L → R in NPDA; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060900 | 369 | Y → C in NPDA. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005061 | 384 | M → I in NPDA and NPDB. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075327 | 387 | C → R in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077319 | 391 | N → H in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005063 | 391 | N → T in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060904 | 392 | Missing in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077320 | 393 | W → R in NPDA; intermediate form. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060906 | 423 | H → R in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077321 | 426 | G → S in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_011388 | 448 | Y → C in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060910 | 452 | L → P in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_015291 | 465 | F → S in NPDA. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060913 | 469 | Y → S in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_015292 | 477 | P → L in NPDA and NPDB. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075329 | 482 | Missing in NPDA; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060916 | 484 | A → E in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077322 | 494 | N → I in NPDA; intermediate form. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060922 | 498 | R → H in NPDA. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005066 | 498 | R → L in NPDA; in 32% of NPDA Ashkenazi Jewish patients; nearly abolishes enzyme activity. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060926 | 519 | Y → C in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060927 | 535 | W → R in NPDB and NPDA; also in patients with an intermediate form. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_015293 | 539 | Y → H in NPDA. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075331 | 572 | F → L in NPDA; results in decreased activity; decreased stability. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005067 | 579 | G → S in NPDA; impairs enzyme activity; also in patients with an intermediate form. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060931 | 594 | Missing in NPDA. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060932 | 602 | R → H in NPDB and NPDA; expresses protein level comparable to wild-type SMPD1 expressing cells; retains about 10% residual enzyme activity. 3 Publications Manual assertion based on experiment ini
| 1 |
Niemann-Pick disease B (NPDB)24 PublicationsManual 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-359. - 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-359, CHARACTERIZATION OF VARIANT NPDB ASP-359. - 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-610 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-438. - 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-384, VARIANTS NPDB ARG-244 AND SER-385. - 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-393. - 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-248. - 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-51; TRP-94; PRO-139; ARG-159; PRO-198; CYS-202; MET-227; CYS-230; ASP-234; SER-247; ARG-250; HIS-291; ALA-325; ARG-332; ASP-359; HIS-378; LEU-378; PRO-381; VAL-415; TYR-423; ARG-433; PRO-434; CYS-437; VAL-454; ASP-458; TRP-476; LEU-477; LEU-482; ASN-490; SER-496; CYS-498; GLN-516; VAL-517; ARG-535; PRO-551; ASN-578; HIS-602 AND PRO-602, VARIANT VAL-487. - 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-250; TYR-321; SER-465; LEU-477 AND HIS-539, VARIANTS NPDB SER-373 AND ARG-610 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-105; PRO-227; CYS-246; THR-283; LYS-294 AND ILE-384. - 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-132 AND TYR-565, CHARACTERIZATION OF VARIANTS NPDB PRO-105; ALA-132; PRO-227; CYS-246; THR-283; TYR-565; HIS-602 AND PRO-602. - 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-168 AND ASN-178, VARIANT GLY-507. - 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-304 AND LEU-498, CHARACTERIZATION OF VARIANTS NPDB TYR-423 AND ARG-610 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-332 AND ASP-453. - 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-247; CYS-369; PHE-392 DEL; ARG-423; SER-469; GLU-484 AND THR-594 DEL, VARIANTS NPDB CYS-230; HIS-378; TRP-476; ALA-488 AND ARG-610 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-211 AND HIS-253, VARIANTS NPDB MET-314; ARG-427 AND HIS-525, CHARACTERIZATION OF VARIANTS NPDA ARG-211 AND HIS-253, CHARACTERIZATION OF VARIANTS NPDB MET-314; ARG-427 AND HIS-525. - 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-163. - 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-91; PRO-105; PRO-163; CYS-230; SER-373; PRO-551 AND ARG-610 DEL, VARIANTS NPDA ARG-250; SER-465; LEU-477 AND HIS-539. - 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-228 AND ARG-387, VARIANTS NPDB CYS-230; SER-247; HIS-378; TRP-476; SER-492; PHE-599 AND ARG-610 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-325, CHARACTERIZATION OF VARIANT VAL-487. - 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-510 AND GLY-605, VARIANTS NPDA ARG-216; CYS-230; SER-255; ARG-319; PRO-324; ARG-343; ARG-363; HIS-391; ARG-393; SER-426; ILE-494; HIS-498; ARG-535 AND HIS-602, VARIANTS NPDB PRO-105; PHE-282; ASP-320; CYS-369; SER-465; LEU-520 AND LYS-549. - 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-258; GLN-476; ASP-577; ARG-598 AND CYS-610, VARIANT NPDA PHE-482 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-325, CHARACTERIZATION OF VARIANTS ALA-36; VAL-487 AND ARG-508, 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 |
---|---|---|---|---|
Natural variantiVAR_060870 | 51 | D → V in NPDB; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075322 | 91 | C → H in NPDB; requires 2 nucleotide substitutions. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060871 | 94 | C → W in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060872 | 105 | L → P in NPDA and NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 5 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060873 | 132 | V → A in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 13% residual enzyme activity. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060874 | 139 | L → P in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_011387 | 159 | C → R in NPDB. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075323 | 163 | L → P in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060875 | 168 | G → R in NPDB; also in patients with an intermediate form. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060876 | 178 | I → N in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060878 | 198 | A → P in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060879 | 202 | R → C in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060880 | 227 | L → M in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060881 | 227 | L → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060882 | 230 | R → C in NPDB and NPDA; some patients have a NPDA/NPDB intermediate phenotype. 5 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060884 | 234 | G → D in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005058 | 244 | G → R in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060886 | 246 | W → C in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060887 | 247 | G → S in NPDA and NPDB. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005059 | 248 | E → Q in NPDB; 30% residual activity. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_015287 | 250 | S → R in NPDA and NPDB; also found in patients with an intermediate form. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075326 | 258 | T → I in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077313 | 282 | P → F in NPDB; requires 2 nucleotide substitutions. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060891 | 283 | A → T in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060892 | 291 | R → H in NPDB; also in patients with an intermediate form; unknown pathological significance. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_068437 | 314 | V → M in NPDB; results in 20% of wild-type activity. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077315 | 320 | N → D in NPDB; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060896 | 325 | P → A in NPDB; results in 1-4% of wild type activity. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060897 | 332 | P → R in NPDB. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060899 | 359 | 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 Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_015289 | 373 | P → S in NPDB. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060901 | 378 | R → H in NPDB; reduces enzyme activity; some patients have a NPDA/NPDB intermediate phenotype. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060902 | 378 | R → L in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060903 | 381 | S → P in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005061 | 384 | M → I in NPDA and NPDB. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005062 | 385 | N → S in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005064 | 393 | W → G in NPDB; low sphingomyelin degradation rates. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060905 | 415 | A → V in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_015290 | 423 | H → Y in NPDB; abolishes enzyme activity. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_068438 | 427 | 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 Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060907 | 433 | C → R in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060908 | 434 | L → P in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060909 | 437 | W → C in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005065 | 438 | S → R in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_068439 | 453 | A → D in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060911 | 454 | A → V in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060912 | 458 | G → D in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075328 | 476 | R → Q in NPDB; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060914 | 476 | R → W in NPDB; some patients have a NPDA/NPDB intermediate phenotype. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_015292 | 477 | P → L in NPDA and NPDB. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060915 | 482 | F → L in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060918 | 488 | T → A in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060919 | 490 | Y → N in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075330 | 492 | G → S in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060920 | 496 | G → S in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060921 | 498 | R → C in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060924 | 516 | H → Q in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060925 | 517 | E → V in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077324 | 520 | I → L in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_068440 | 522 | N → S in NPDB. 1 Publication Manual assertion based on experiment ini | 1 | |
Natural variantiVAR_068441 | 525 | Q → H in NPDB; results in 64% of wild-type activity. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060927 | 535 | W → R in NPDB and NPDA; also in patients with an intermediate form. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_077325 | 549 | N → K in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060928 | 551 | L → P in NPDB. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060929 | 565 | D → Y in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 6.8% residual enzyme activity. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075332 | 577 | H → D in NPDB; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060930 | 578 | K → N in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075333 | 598 | Q → R in NPDB. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075334 | 599 | L → F in NPDB; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060932 | 602 | R → H in NPDB and NPDA; expresses protein level comparable to wild-type SMPD1 expressing cells; retains about 10% residual enzyme activity. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_060933 | 602 | R → P in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075335 | 610 | R → C in NPDB; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_005068 | 610 | Missing in NPDB; nearly abolishes enzyme activity; some patients have a NPDA/NPDB intermediate phenotype. 6 Publications Manual assertion based on experiment ini
| 1 |
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 |
MIMi | 257200, phenotype 607616, phenotype |
Open Targets More...OpenTargetsi | ENSG00000166311 |
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 |
Miscellaneous databases
Pharos NIH Druggable Genome Knowledgebase More...Pharosi | P17405, Tbio |
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 DB14009, Medical Cannabis |
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYi | 2514 |
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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000002323 | 47 – 631 | Sphingomyelin phosphodiesteraseAdd BLAST | 585 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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 | 88 | 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 sourcesManual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual 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 | 91 ↔ 167 | PROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| ||
Disulfide bondi | 94 ↔ 159 | PROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| ||
Disulfide bondi | 122 ↔ 133 | PROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| ||
Glycosylationi | 177 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| 1 | |
Disulfide bondi | 223 ↔ 228 | PROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| ||
Disulfide bondi | 229 ↔ 252 | PROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| ||
Glycosylationi | 337 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| 1 | |
Disulfide bondi | 387 ↔ 433 | PROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| ||
Glycosylationi | 397 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| 1 | |
Glycosylationi | 505 | N-linked (GlcNAc...) asparagineCombined sources Manual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| 1 | |
Glycosylationi | 522 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| 1 | |
Disulfide bondi | 586 ↔ 590 | PROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| ||
Disulfide bondi | 596 ↔ 609 | PROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
|
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOST - Japan Proteome Standard Repository/Database More...jPOSTi | P17405 |
MassIVE - Mass Spectrometry Interactive Virtual Environment More...MassIVEi | 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: a multi-organism proteome resource More...ProteomicsDBi | 21562 53470 [P17405-1] 53471 [P17405-2] 53472 [P17405-3] |
PTM databases
GlyConnect protein glycosylation platform More...GlyConnecti | 2081, 1 N-Linked glycan (1 site) |
GlyGen: Computational and Informatics Resources for Glycoscience More...GlyGeni | P17405, 8 sites, 1 N-linked glycan (1 site) |
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, Expressed in right lobe of liver and 225 other tissues |
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 |
Organism-specific databases
Human Protein Atlas More...HPAi | ENSG00000166311, Low tissue specificity |
<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
Monomer.
1 PublicationManual 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-631 IN COMPLEX WITH ZINC, CATALYTIC ACTIVITY, GLYCOSYLATION AT ASN-88; ASN-177; ASN-337; ASN-397; ASN-505 AND ASN-522, DISULFIDE BONDS, SUBUNIT.
<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi
P17405
With | #Exp. | IntAct |
---|---|---|
CASP7 [P55210] | 6 | EBI-7095800,EBI-523958 |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGRID) More...BioGRIDi | 112493, 15 interactors |
Protein interaction database and analysis system More...IntActi | P17405, 11 interactors |
Molecular INTeraction database More...MINTi | P17405 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000340409 |
Miscellaneous databases
RNAct, Protein-RNA interaction predictions for model organisms. More...RNActi | P17405, protein |
<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 <a href="http://www.uniprot.org/help/structure%5Fsection">'Structure'</a> 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 | 87 – 89 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 90 – 105 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 16 | |
Helixi | 108 – 124 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 17 | |
Helixi | 130 – 150 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 21 | |
<p>This subsection of the <a href="http://www.uniprot.org/help/structure%5Fsection">'Structure'</a> 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 | 151 – 153 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 155 – 163 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 9 | |
Turni | 165 – 167 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
<p>This subsection of the <a href="http://www.uniprot.org/help/structure%5Fsection">'Structure'</a> 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 | 200 – 206 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 7 | |
Beta strandi | 224 – 227 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 249 – 251 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 256 – 264 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 9 | |
Helixi | 267 – 269 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 273 – 277 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Helixi | 291 – 309 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 19 | |
Beta strandi | 314 – 316 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 322 – 325 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 336 – 340 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Helixi | 341 – 350 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 10 | |
Turni | 352 – 354 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 357 – 366 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 10 | |
Beta strandi | 369 – 374 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
Beta strandi | 377 – 381 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Helixi | 384 – 387 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Helixi | 392 – 395 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Helixi | 401 – 403 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 404 – 418 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 15 | |
Beta strandi | 421 – 425 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Helixi | 430 – 432 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 435 – 447 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 13 | |
Turni | 448 – 451 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 452 – 457 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
Beta strandi | 464 – 469 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
Turni | 471 – 473 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 476 – 483 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
Turni | 490 – 492 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 496 – 503 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
Beta strandi | 513 – 520 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
Helixi | 523 – 526 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 536 – 540 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Helixi | 541 – 545 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Helixi | 552 – 563 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei |