UniProtKB - O15118 (NPC1_HUMAN)
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>sp|O15118|NPC1_HUMAN NPC intracellular cholesterol transporter 1 OS=Homo sapiens OX=9606 GN=NPC1 PE=1 SV=2 MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQ ELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQF LNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKD ADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSC QDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVS EYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVF ITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIY QPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCT ILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGP VFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLT ISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAG ILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETL DQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFV SLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIA IFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYT SSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVD NITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYS SAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFP YSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFG VMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFS GITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKS CATEERYKGTERERLLNFHelp videoAdd a publicationFeedback
Protein
NPC intracellular cholesterol transporter 1
Gene
NPC1
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
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
Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:9211849, PubMed:9927649, PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:28784760). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable).Curated8 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.1"Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis."
Carstea E.D., Morris J.A., Coleman K.G., Loftus S.K., Zhang D., Cummings C., Gu J., Rosenfeld M.A., Pavan W.J., Krizman D.B., Nagle J., Polymeropoulos M.H., Sturley S.L., Ioannou Y.A., Higgins M.E., Comly M., Cooney A., Brown A. , Kaneski C.R., Blanchette-Mackie E.J., Dwyer N.K., Neufeld E.B., Chang T.-Y., Liscum L., Strauss J.F. III, Ohno K., Zeigler M., Carmi R., Sokol J., Markie D., O'Neill R.R., van Diggelen O.P., Elleder M., Patterson M.C., Brady R.O., Vanier M.T., Pentchev P.G., Tagle D.A.
Science 277:228-231(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANT ILE-642, VARIANTS NPC1. - Ref.7"Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization."
Watari H., Blanchette-Mackie E.J., Dwyer N.K., Glick J.M., Patel S., Neufeld E.B., Brady R.O., Pentchev P.G., Strauss J.F. III
Proc. Natl. Acad. Sci. U.S.A. 96:805-810(1999) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, DOMAIN, MUTAGENESIS OF CYS-63; 74-CYS-CYS-75; CYS-97 AND 1275-LEU--PHE-1278. - Ref.8"Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein."
Davies J.P., Ioannou Y.A.
J. Biol. Chem. 275:24367-24374(2000) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, TOPOLOGY, GLYCOSYLATION. - Ref.10"NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes."
Infante R.E., Wang M.L., Radhakrishnan A., Kwon H.J., Brown M.S., Goldstein J.L.
Proc. Natl. Acad. Sci. U.S.A. 105:15287-15292(2008) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH NPC2, CATALYTIC ACTIVITY. - Ref.20"Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol."
Kwon H.J., Abi-Mosleh L., Wang M.L., Deisenhofer J., Goldstein J.L., Brown M.S., Infante R.E.
Cell 137:1213-1224(2009) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.60 ANGSTROMS) OF 23-252 OF MUTANT GLN-70; GLN-122 AND GLN-185 IN COMPLEX WITH CHOLESTEROL, FUNCTION, DISULFIDE BONDS, GLYCOSYLATION AT ASN-158 AND ASN-222, MUTAGENESIS OF 26-VAL-TRP-27; 39-ARG--ASN-41; ASN-41; ASN-70; 82-THR-LEU-83; 101-PHE-TYR-102; 106-ASN--PHE-108; 110-GLU--THR-112; ASN-122; 144-LEU-GLN-145; 146-TYR-TYR-147; 175-LEU-LEU-176; 180-ASP--ASP-182; ASN-185; 187-TYR-ASN-188; 191-GLU-TYR-192; 195-ASN-LYS-196; 197-ASP-ASN-198; 199-GLY-GLN-200; 202-PRO-PHE-203; 204-THR-ILE-205 AND GLY-660. - Ref.22"Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection."
Gong X., Qian H., Zhou X., Wu J., Wan T., Cao P., Huang W., Zhao X., Wang X., Wang P., Shi Y., Gao G.F., Zhou Q., Yan N.
Cell 165:1467-1478(2016) [PubMed] [Europe PMC] [Abstract]Cited for: STRUCTURE BY ELECTRON MICROSCOPY (4.43 ANGSTROMS), FUNCTION, INTERACTION WITH NPC2 AND WITH EBOLAVIRUS GLYCOPROTEIN GP, TOPOLOGY, GLYCOSYLATION AT ASN-122; ASN-135; ASN-158; ASN-185; ASN-222; ASN-524; ASN-572; ASN-598 AND ASN-1064, DISULFIDE BONDS, CHARACTERIZATION OF VARIANT NPC1 TRP-518, MUTAGENESIS OF 25-CYS--PRO-257; 175-LEU-LEU-176; 202-PRO-PHE-203 AND 249-PRO--PRO-257. - Ref.25"3.3 A structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport."
Li X., Lu F., Trinh M.N., Schmiege P., Seemann J., Wang J., Blobel G.
Proc. Natl. Acad. Sci. U.S.A. 114:9116-9121(2017) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (3.33 ANGSTROMS) OF 334-1278, FUNCTION, TOPOLOGY, GLYCOSYLATION AT ASN-452; ASN-459; ASN-478; ASN-524; ASN-557; ASN-598; ASN-916; ASN-931; ASN-961; ASN-968 AND ASN-1064, MUTAGENESIS OF 230-SER--VAL-234; PRO-691 AND 909-CYS--ASP-917, DISULFIDE BONDS. - Ref.37"Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease."
Blom T.S., Linder M.D., Snow K., Pihko H., Hess M.W., Jokitalo E., Veckman V., Syvaenen A.-C., Ikonen E.
Hum. Mol. Genet. 12:257-272(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT NPC1 ARG-113, VARIANT SER-237, CHARACTERIZATION OF VARIANT NPC1 ARG-113, CHARACTERIZATION OF VARIANT SER-237.
(Microbial infection) Acts as an endosomal entry receptor for ebolavirus.2 Publications
Manual assertion based on experiment ini
- Ref.17"Ebola virus entry requires the cholesterol transporter Niemann-Pick C1."
Carette J.E., Raaben M., Wong A.C., Herbert A.S., Obernosterer G., Mulherkar N., Kuehne A.I., Kranzusch P.J., Griffin A.M., Ruthel G., Dal Cin P., Dye J.M., Whelan S.P., Chandran K., Brummelkamp T.R.
Nature 477:340-343(2011) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION (MICROBIAL INFECTION), INTERACTION WITH EBOLAVIRUS GLYCOPROTEIN. - Ref.18"Interaction between TIM-1 and NPC1 Is Important for Cellular Entry of Ebola Virus."
Kuroda M., Fujikura D., Nanbo A., Marzi A., Noyori O., Kajihara M., Maruyama J., Matsuno K., Miyamoto H., Yoshida R., Feldmann H., Takada A.
J. Virol. 89:6481-6493(2015) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH TIM1, FUNCTION (MICROBIAL INFECTION).
<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
- cholesterol
- Search proteins in UniProtKB for this molecule.
- Search chemical reactions in Rhea for this molecule.
- See the description of this molecule in ChEBI.
- Search proteins in UniProtKB for this molecule.
- Search chemical reactions in Rhea for this molecule.
- See the description of this molecule in ChEBI.
Manual assertion based on experiment ini
- Ref.10"NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes."
Infante R.E., Wang M.L., Radhakrishnan A., Kwon H.J., Brown M.S., Goldstein J.L.
Proc. Natl. Acad. Sci. U.S.A. 105:15287-15292(2008) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH NPC2, CATALYTIC ACTIVITY.
Source: Rhea- Search for this reaction in UniProtKB.
- See the description of this reaction in Rhea.
cholesterol- Search proteins in UniProtKB for this molecule.
- Search chemical reactions in Rhea for this molecule.
- See the description of this molecule in ChEBI.
zoom
=cholesterol- Search proteins in UniProtKB for this molecule.
- Search chemical reactions in Rhea for this molecule.
- See the description of this molecule in ChEBI.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 41 | CholesterolCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 Publication<p>Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.</p> <p><a href="/manual/evidences#ECO:0000305">More...</a></p> Manual assertion inferred by curator fromi
Manual assertion based on experiment ini
| 1 | |
| Binding sitei | 79 | CholesterolCombined sources Manual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion inferred by curator fromi
Manual assertion based on experiment ini
| 1 | |
| <p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei | 108 | Important for cholesterol binding1 Publication Manual assertion based on experiment ini
| 1 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- cholesterol binding Source: UniProtKB
<p>Inferred from Direct Assay</p>
<p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p>
Inferred from direct assayi
- Ref.10"NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes."
Infante R.E., Wang M.L., Radhakrishnan A., Kwon H.J., Brown M.S., Goldstein J.L.
Proc. Natl. Acad. Sci. U.S.A. 105:15287-15292(2008) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH NPC2, CATALYTIC ACTIVITY.
- signaling receptor activity 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
- Ref.1"Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis."
Carstea E.D., Morris J.A., Coleman K.G., Loftus S.K., Zhang D., Cummings C., Gu J., Rosenfeld M.A., Pavan W.J., Krizman D.B., Nagle J., Polymeropoulos M.H., Sturley S.L., Ioannou Y.A., Higgins M.E., Comly M., Cooney A., Brown A. , Kaneski C.R., Blanchette-Mackie E.J., Dwyer N.K., Neufeld E.B., Chang T.-Y., Liscum L., Strauss J.F. III, Ohno K., Zeigler M., Carmi R., Sokol J., Markie D., O'Neill R.R., van Diggelen O.P., Elleder M., Patterson M.C., Brady R.O., Vanier M.T., Pentchev P.G., Tagle D.A.
Science 277:228-231(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANT ILE-642, VARIANTS NPC1.
- sterol transporter activity Source: ProtIncTraceable author statementi
- Ref.7"Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization."
Watari H., Blanchette-Mackie E.J., Dwyer N.K., Glick J.M., Patel S., Neufeld E.B., Brady R.O., Pentchev P.G., Strauss J.F. III
Proc. Natl. Acad. Sci. U.S.A. 96:805-810(1999) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, DOMAIN, MUTAGENESIS OF CYS-63; 74-CYS-CYS-75; CYS-97 AND 1275-LEU--PHE-1278.
- transmembrane signaling receptor activity Source: ProtIncTraceable author statementi
- Ref.27"Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain."
Greer W.L., Dobson M.J., Girouard G.S., Byers D.M., Riddell D.C., Neumann P.E.
Am. J. Hum. Genet. 65:1252-1260(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 GLN-934; LEU-940; ASN-948; LEU-954; TRP-992; ALA-1007; THR-1061 AND VAL-1213.
- virus receptor activity Source: UniProtKB-KW
GO - Biological processi
- adult walking behavior Source: Ensembl
- autophagy Source: MGI
<p>Inferred from Genetic Interaction</p>
<p>Used to describe "traditional" genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#igi">GO evidence code guide</a></p>
Inferred from genetic interactioni
- "Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis."
Pacheco C.D., Elrick M.J., Lieberman A.P.
Hum. Mol. Genet. 18:956-965(2009) [PubMed] [Europe PMC] [Abstract]
- bile acid metabolic process Source: UniProtKB
- cellular response to low-density lipoprotein particle stimulus Source: Ensembl
- cellular response to steroid hormone stimulus Source: Ensembl
- cholesterol efflux Source: BHF-UCLInferred from direct assayi
- "Liver X receptor activation controls intracellular cholesterol trafficking and esterification in human macrophages."
Rigamonti E., Helin L., Lestavel S., Mutka A.L., Lepore M., Fontaine C., Bouhlel M.A., Bultel S., Fruchart J.C., Ikonen E., Clavey V., Staels B., Chinetti-Gbaguidi G.
Circ. Res. 97:682-689(2005) [PubMed] [Europe PMC] [Abstract]
- cholesterol homeostasis Source: UniProtKBInferred from direct assayi
- "NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols."
Frolov A., Zielinski S.E., Crowley J.R., Dudley-Rucker N., Schaffer J.E., Ory D.S.
J. Biol. Chem. 278:25517-25525(2003) [PubMed] [Europe PMC] [Abstract]
- cholesterol metabolic process Source: UniProtKB-KW
- cholesterol transport Source: UniProtKBInferred from direct assayi
- Ref.10"NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes."
Infante R.E., Wang M.L., Radhakrishnan A., Kwon H.J., Brown M.S., Goldstein J.L.
Proc. Natl. Acad. Sci. U.S.A. 105:15287-15292(2008) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH NPC2, CATALYTIC ACTIVITY.
- endocytosis Source: Ensembl
- establishment of protein localization to membrane Source: UniProtKBInferred from direct assayi
- "Interaction of AnxA6 with isolated and artificial lipid microdomains; importance of lipid composition and calcium content."
Domon M.M., Besson F., Tylki-Szymanska A., Bandorowicz-Pikula J., Pikula S.
Mol Biosyst 9:668-676(2013) [PubMed] [Europe PMC] [Abstract]
- intracellular cholesterol transport Source: UniProtKB
<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
- Ref.22"Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection."
Gong X., Qian H., Zhou X., Wu J., Wan T., Cao P., Huang W., Zhao X., Wang X., Wang P., Shi Y., Gao G.F., Zhou Q., Yan N.
Cell 165:1467-1478(2016) [PubMed] [Europe PMC] [Abstract]Cited for: STRUCTURE BY ELECTRON MICROSCOPY (4.43 ANGSTROMS), FUNCTION, INTERACTION WITH NPC2 AND WITH EBOLAVIRUS GLYCOPROTEIN GP, TOPOLOGY, GLYCOSYLATION AT ASN-122; ASN-135; ASN-158; ASN-185; ASN-222; ASN-524; ASN-572; ASN-598 AND ASN-1064, DISULFIDE BONDS, CHARACTERIZATION OF VARIANT NPC1 TRP-518, MUTAGENESIS OF 25-CYS--PRO-257; 175-LEU-LEU-176; 202-PRO-PHE-203 AND 249-PRO--PRO-257. - Ref.25"3.3 A structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport."
Li X., Lu F., Trinh M.N., Schmiege P., Seemann J., Wang J., Blobel G.
Proc. Natl. Acad. Sci. U.S.A. 114:9116-9121(2017) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (3.33 ANGSTROMS) OF 334-1278, FUNCTION, TOPOLOGY, GLYCOSYLATION AT ASN-452; ASN-459; ASN-478; ASN-524; ASN-557; ASN-598; ASN-916; ASN-931; ASN-961; ASN-968 AND ASN-1064, MUTAGENESIS OF 230-SER--VAL-234; PRO-691 AND 909-CYS--ASP-917, DISULFIDE BONDS. - Ref.1"Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis."
Carstea E.D., Morris J.A., Coleman K.G., Loftus S.K., Zhang D., Cummings C., Gu J., Rosenfeld M.A., Pavan W.J., Krizman D.B., Nagle J., Polymeropoulos M.H., Sturley S.L., Ioannou Y.A., Higgins M.E., Comly M., Cooney A., Brown A. , Kaneski C.R., Blanchette-Mackie E.J., Dwyer N.K., Neufeld E.B., Chang T.-Y., Liscum L., Strauss J.F. III, Ohno K., Zeigler M., Carmi R., Sokol J., Markie D., O'Neill R.R., van Diggelen O.P., Elleder M., Patterson M.C., Brady R.O., Vanier M.T., Pentchev P.G., Tagle D.A.
Science 277:228-231(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANT ILE-642, VARIANTS NPC1.
- low-density lipoprotein particle clearance Source: Reactome
- lysosomal transport Source: UniProtKB
- membrane raft organization Source: UniProtKBInferred from mutant phenotypei
- "Interaction of AnxA6 with isolated and artificial lipid microdomains; importance of lipid composition and calcium content."
Domon M.M., Besson F., Tylki-Szymanska A., Bandorowicz-Pikula J., Pikula S.
Mol Biosyst 9:668-676(2013) [PubMed] [Europe PMC] [Abstract]
- negative regulation of cell death Source: Ensembl
- negative regulation of macroautophagy Source: Ensembl
- protein glycosylation Source: UniProtKBInferred from direct assayi
- Ref.8"Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein."
Davies J.P., Ioannou Y.A.
J. Biol. Chem. 275:24367-24374(2000) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, TOPOLOGY, GLYCOSYLATION.
- response to cadmium ion Source: Ensembl
- response to drug Source: Ensembl
- viral entry into host cell Source: CACAOInferred from mutant phenotypei
- "Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection."
Cote M., Misasi J., Ren T., Bruchez A., Lee K., Filone C.M., Hensley L., Li Q., Ory D., Chandran K., Cunningham J.
Nature 477:344-348(2011) [PubMed] [Europe PMC] [Abstract] - Ref.17"Ebola virus entry requires the cholesterol transporter Niemann-Pick C1."
Carette J.E., Raaben M., Wong A.C., Herbert A.S., Obernosterer G., Mulherkar N., Kuehne A.I., Kranzusch P.J., Griffin A.M., Ruthel G., Dal Cin P., Dye J.M., Whelan S.P., Chandran K., Brummelkamp T.R.
Nature 477:340-343(2011) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION (MICROBIAL INFECTION), INTERACTION WITH EBOLAVIRUS GLYCOPROTEIN.
<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 | Host cell receptor for virus entry, Receptor |
| Biological process | Cholesterol metabolism, Host-virus interaction, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-8964038 LDL clearance |
Protein family/group databases
Transport Classification Database More...TCDBi | 2.A.6.6.1 the resistance-nodulation-cell division (rnd) superfamily |
Chemistry databases
SwissLipids knowledge resource for lipid biology More...SwissLipidsi | SLP:000000478 |
<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: NPC intracellular cholesterol transporter 1Imported<p>Manually validated information which has been imported from another database.</p> <p><a href="/manual/evidences#ECO:0000312">More...</a></p> Manual assertion inferred from database entriesi Alternative name(s): Niemann-Pick C1 protein1 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
|
| <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 | |
| <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 |
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Organism-specific databases
Human Gene Nomenclature Database More...HGNCi | HGNC:7897 NPC1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 607623 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_O15118 |
<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
Lysosome
- Lysosome membrane 2 Publications
Manual assertion based on experiment ini
- Ref.7"Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization."
Watari H., Blanchette-Mackie E.J., Dwyer N.K., Glick J.M., Patel S., Neufeld E.B., Brady R.O., Pentchev P.G., Strauss J.F. III
Proc. Natl. Acad. Sci. U.S.A. 96:805-810(1999) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, DOMAIN, MUTAGENESIS OF CYS-63; 74-CYS-CYS-75; CYS-97 AND 1275-LEU--PHE-1278. - Ref.9"Integral and associated lysosomal membrane proteins."
Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A.
Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Manual assertion based on experiment ini
- Ref.8"Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein."
Davies J.P., Ioannou Y.A.
J. Biol. Chem. 275:24367-24374(2000) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, TOPOLOGY, GLYCOSYLATION. - Ref.22"Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection."
Gong X., Qian H., Zhou X., Wu J., Wan T., Cao P., Huang W., Zhao X., Wang X., Wang P., Shi Y., Gao G.F., Zhou Q., Yan N.
Cell 165:1467-1478(2016) [PubMed] [Europe PMC] [Abstract]Cited for: STRUCTURE BY ELECTRON MICROSCOPY (4.43 ANGSTROMS), FUNCTION, INTERACTION WITH NPC2 AND WITH EBOLAVIRUS GLYCOPROTEIN GP, TOPOLOGY, GLYCOSYLATION AT ASN-122; ASN-135; ASN-158; ASN-185; ASN-222; ASN-524; ASN-572; ASN-598 AND ASN-1064, DISULFIDE BONDS, CHARACTERIZATION OF VARIANT NPC1 TRP-518, MUTAGENESIS OF 25-CYS--PRO-257; 175-LEU-LEU-176; 202-PRO-PHE-203 AND 249-PRO--PRO-257. - Ref.25"3.3 A structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport."
Li X., Lu F., Trinh M.N., Schmiege P., Seemann J., Wang J., Blobel G.
Proc. Natl. Acad. Sci. U.S.A. 114:9116-9121(2017) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (3.33 ANGSTROMS) OF 334-1278, FUNCTION, TOPOLOGY, GLYCOSYLATION AT ASN-452; ASN-459; ASN-478; ASN-524; ASN-557; ASN-598; ASN-916; ASN-931; ASN-961; ASN-968 AND ASN-1064, MUTAGENESIS OF 230-SER--VAL-234; PRO-691 AND 909-CYS--ASP-917, DISULFIDE BONDS.
- Lysosome membrane 2 Publications
Endosome
- Late endosome membrane 1 Publication
Manual assertion based on experiment ini
- Ref.37"Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease."
Blom T.S., Linder M.D., Snow K., Pihko H., Hess M.W., Jokitalo E., Veckman V., Syvaenen A.-C., Ikonen E.
Hum. Mol. Genet. 12:257-272(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT NPC1 ARG-113, VARIANT SER-237, CHARACTERIZATION OF VARIANT NPC1 ARG-113, CHARACTERIZATION OF VARIANT SER-237.
Manual assertion based on experiment ini
- Ref.8"Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein."
Davies J.P., Ioannou Y.A.
J. Biol. Chem. 275:24367-24374(2000) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, TOPOLOGY, GLYCOSYLATION. - Ref.22"Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection."
Gong X., Qian H., Zhou X., Wu J., Wan T., Cao P., Huang W., Zhao X., Wang X., Wang P., Shi Y., Gao G.F., Zhou Q., Yan N.
Cell 165:1467-1478(2016) [PubMed] [Europe PMC] [Abstract]Cited for: STRUCTURE BY ELECTRON MICROSCOPY (4.43 ANGSTROMS), FUNCTION, INTERACTION WITH NPC2 AND WITH EBOLAVIRUS GLYCOPROTEIN GP, TOPOLOGY, GLYCOSYLATION AT ASN-122; ASN-135; ASN-158; ASN-185; ASN-222; ASN-524; ASN-572; ASN-598 AND ASN-1064, DISULFIDE BONDS, CHARACTERIZATION OF VARIANT NPC1 TRP-518, MUTAGENESIS OF 25-CYS--PRO-257; 175-LEU-LEU-176; 202-PRO-PHE-203 AND 249-PRO--PRO-257. - Ref.25"3.3 A structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport."
Li X., Lu F., Trinh M.N., Schmiege P., Seemann J., Wang J., Blobel G.
Proc. Natl. Acad. Sci. U.S.A. 114:9116-9121(2017) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (3.33 ANGSTROMS) OF 334-1278, FUNCTION, TOPOLOGY, GLYCOSYLATION AT ASN-452; ASN-459; ASN-478; ASN-524; ASN-557; ASN-598; ASN-916; ASN-931; ASN-961; ASN-968 AND ASN-1064, MUTAGENESIS OF 230-SER--VAL-234; PRO-691 AND 909-CYS--ASP-917, DISULFIDE BONDS.
- Late endosome membrane 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKBInferred from direct assayi
- Ref.37"Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease."
Blom T.S., Linder M.D., Snow K., Pihko H., Hess M.W., Jokitalo E., Veckman V., Syvaenen A.-C., Ikonen E.
Hum. Mol. Genet. 12:257-272(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT NPC1 ARG-113, VARIANT SER-237, CHARACTERIZATION OF VARIANT NPC1 ARG-113, CHARACTERIZATION OF VARIANT SER-237.
- endoplasmic reticulum Source: UniProtKBInferred from direct assayi
Endosome
- late endosome membrane Source: UniProtKB-SubCell
Extracellular region or secreted
- extracellular exosome Source: UniProtKBInferred from high throughput direct assayi
- "Large-scale proteomics and phosphoproteomics of urinary exosomes."
Gonzales P.A., Pisitkun T., Hoffert J.D., Tchapyjnikov D., Star R.A., Kleta R., Wang N.S., Knepper M.A.
J. Am. Soc. Nephrol. 20:363-379(2009) [PubMed] [Europe PMC] [Abstract]
- extracellular region Source: UniProtKB
- extracellular exosome Source: UniProtKBInferred from high throughput direct assayi
Golgi apparatus
- Golgi apparatus Source: Ensembl
Lysosome
- integral component of lysosomal membrane Source: UniProtKBInferred from direct assayi
- Ref.25"3.3 A structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport."
Li X., Lu F., Trinh M.N., Schmiege P., Seemann J., Wang J., Blobel G.
Proc. Natl. Acad. Sci. U.S.A. 114:9116-9121(2017) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (3.33 ANGSTROMS) OF 334-1278, FUNCTION, TOPOLOGY, GLYCOSYLATION AT ASN-452; ASN-459; ASN-478; ASN-524; ASN-557; ASN-598; ASN-916; ASN-931; ASN-961; ASN-968 AND ASN-1064, MUTAGENESIS OF 230-SER--VAL-234; PRO-691 AND 909-CYS--ASP-917, DISULFIDE BONDS. - Ref.7"Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization."
Watari H., Blanchette-Mackie E.J., Dwyer N.K., Glick J.M., Patel S., Neufeld E.B., Brady R.O., Pentchev P.G., Strauss J.F. III
Proc. Natl. Acad. Sci. U.S.A. 96:805-810(1999) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, DOMAIN, MUTAGENESIS OF CYS-63; 74-CYS-CYS-75; CYS-97 AND 1275-LEU--PHE-1278.
- lysosomal membrane Source: UniProtKBInferred from high throughput direct assayi
- Ref.9"Integral and associated lysosomal membrane proteins."
Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A.
Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
- lysosome Source: UniProtKB
- integral component of lysosomal membrane Source: UniProtKBInferred from direct assayi
Nucleus
- nuclear envelope Source: UniProtKBInferred from direct assayi
- Ref.37"Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease."
Blom T.S., Linder M.D., Snow K., Pihko H., Hess M.W., Jokitalo E., Veckman V., Syvaenen A.-C., Ikonen E.
Hum. Mol. Genet. 12:257-272(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT NPC1 ARG-113, VARIANT SER-237, CHARACTERIZATION OF VARIANT NPC1 ARG-113, CHARACTERIZATION OF VARIANT SER-237.
- nuclear envelope Source: UniProtKBInferred from direct assayi
Plasma Membrane
- integral component of plasma membrane Source: UniProtKBInferred from direct assayi
- Ref.8"Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein."
Davies J.P., Ioannou Y.A.
J. Biol. Chem. 275:24367-24374(2000) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, TOPOLOGY, GLYCOSYLATION.
- integral component of plasma membrane Source: UniProtKBInferred from direct assayi
Other locations
- integral component of membrane Source: ProtIncTraceable author statementi
- Ref.27"Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain."
Greer W.L., Dobson M.J., Girouard G.S., Byers D.M., Riddell D.C., Neumann P.E.
Am. J. Hum. Genet. 65:1252-1260(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 GLN-934; LEU-940; ASN-948; LEU-954; TRP-992; ALA-1007; THR-1061 AND VAL-1213.
- membrane Source: UniProtKBInferred from high throughput direct assayi
- "Defining the membrane proteome of NK cells."
Ghosh D., Lippert D., Krokhin O., Cortens J.P., Wilkins J.A.
J Mass Spectrom 45:1-25(2010) [PubMed] [Europe PMC] [Abstract]
- membrane raft Source: Ensembl
- perinuclear region of cytoplasm Source: UniProtKBInferred from direct assayi
- Ref.37"Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease."
Blom T.S., Linder M.D., Snow K., Pihko H., Hess M.W., Jokitalo E., Veckman V., Syvaenen A.-C., Ikonen E.
Hum. Mol. Genet. 12:257-272(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT NPC1 ARG-113, VARIANT SER-237, CHARACTERIZATION OF VARIANT NPC1 ARG-113, CHARACTERIZATION OF VARIANT SER-237.
- integral component of membrane Source: ProtIncTraceable author statementi
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 23 – 261 | Lumenal1 Publication Manual assertion based on experiment ini
| 239 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 262 – 282 | Helical1 Publication Manual assertion based on experiment ini
| 21 | |
| Topological domaini | 283 – 350 | Cytoplasmic1 Publication Manual assertion based on experiment ini
| 68 | |
| Transmembranei | 351 – 371 | Helical2 Publications Manual assertion based on experiment ini
| 21 | |
| Topological domaini | 372 – 620 | Lumenal2 Publications Manual assertion based on experiment ini
| 249 | |
| Transmembranei | 621 – 641 | Helical2 Publications Manual assertion based on experiment ini
| 21 | |
| Topological domaini | 642 – 653 | Cytoplasmic1 Publication Manual assertion based on experiment ini
| 12 | |
| Transmembranei | 654 – 675 | Helical1 Publication Manual assertion based on experiment ini
| 22 | |
| Topological domaini | 676 – 685 | Lumenal1 Publication Manual assertion based on experiment ini
| 10 | |
| Transmembranei | 686 – 706 | Helical1 Publication Manual assertion based on experiment ini
| 21 | |
| Topological domaini | 707 – 730 | Cytoplasmic1 Publication Manual assertion based on experiment ini
| 24 | |
| Transmembranei | 731 – 751 | Helical1 Publication Manual assertion based on experiment ini
| 21 | |
| Topological domaini | 752 – 759 | Lumenal1 Publication Manual assertion based on experiment ini
| 8 | |
| Transmembranei | 760 – 783 | Helical1 Publication Manual assertion based on experiment ini
| 24 | |
| Topological domaini | 784 – 832 | Cytoplasmic1 Publication Manual assertion based on experiment ini
| 49 | |
| Transmembranei | 833 – 853 | Helical1 Publication Manual assertion based on experiment ini
| 21 | |
| Topological domaini | 854 – 1097 | Lumenal1 Publication Manual assertion based on experiment ini
| 244 | |
| Transmembranei | 1098 – 1118 | Helical1 Publication Manual assertion based on experiment ini
| 21 | |
| Topological domaini | 1119 – 1124 | Cytoplasmic1 Publication Manual assertion based on experiment ini
| 6 | |
| Transmembranei | 1125 – 1145 | Helical1 Publication Manual assertion based on experiment ini
| 21 | |
| Topological domaini | 1146 – 1150 | Lumenal1 Publication Manual assertion based on experiment ini
| 5 | |
| Transmembranei | 1151 – 1171 | Helical1 Publication Manual assertion based on experiment ini
| 21 | |
| Topological domaini | 1172 – 1194 | Cytoplasmic1 Publication Manual assertion based on experiment ini
| 23 | |
| Transmembranei | 1195 – 1215 | Helical1 Publication Manual assertion based on experiment ini
| 21 | |
| Topological domaini | 1216 – 1223 | Lumenal1 Publication Manual assertion based on experiment ini
| 8 | |
| Transmembranei | 1224 – 1244 | Helical1 Publication Manual assertion based on experiment ini
| 21 | |
| Topological domaini | 1245 – 1278 | Cytoplasmic1 Publication Manual assertion based on experiment ini
| 34 |
Keywords - Cellular componenti
Endosome, Lysosome, Membrane<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 C1 (NPC1)20 PublicationsManual assertion based on experiment ini
- Ref.1"Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis."
Carstea E.D., Morris J.A., Coleman K.G., Loftus S.K., Zhang D., Cummings C., Gu J., Rosenfeld M.A., Pavan W.J., Krizman D.B., Nagle J., Polymeropoulos M.H., Sturley S.L., Ioannou Y.A., Higgins M.E., Comly M., Cooney A., Brown A. , Kaneski C.R., Blanchette-Mackie E.J., Dwyer N.K., Neufeld E.B., Chang T.-Y., Liscum L., Strauss J.F. III, Ohno K., Zeigler M., Carmi R., Sokol J., Markie D., O'Neill R.R., van Diggelen O.P., Elleder M., Patterson M.C., Brady R.O., Vanier M.T., Pentchev P.G., Tagle D.A.
Science 277:228-231(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANT ILE-642, VARIANTS NPC1. - Ref.3"NPC1: complete genomic sequence, mutation analysis, and characterization of haplotypes."
Bauer P., Knoblich R., Bauer C., Finckh U., Hufen A., Kropp J., Braun S., Kustermann-Kuhn B., Schmidt D., Harzer K., Rolfs A.
Hum. Mutat. 19:30-38(2002) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS NPC1 ARG-512; TRP-670; CYS-825; ILE-849; VAL-874; TYR-948; LEU-954; LEU-958; ALA-1007 AND THR-1061, VARIANTS ARG-215; ILE-642; VAL-858; GLY-971 AND VAL-1049. - Ref.22"Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection."
Gong X., Qian H., Zhou X., Wu J., Wan T., Cao P., Huang W., Zhao X., Wang X., Wang P., Shi Y., Gao G.F., Zhou Q., Yan N.
Cell 165:1467-1478(2016) [PubMed] [Europe PMC] [Abstract]Cited for: STRUCTURE BY ELECTRON MICROSCOPY (4.43 ANGSTROMS), FUNCTION, INTERACTION WITH NPC2 AND WITH EBOLAVIRUS GLYCOPROTEIN GP, TOPOLOGY, GLYCOSYLATION AT ASN-122; ASN-135; ASN-158; ASN-185; ASN-222; ASN-524; ASN-572; ASN-598 AND ASN-1064, DISULFIDE BONDS, CHARACTERIZATION OF VARIANT NPC1 TRP-518, MUTAGENESIS OF 25-CYS--PRO-257; 175-LEU-LEU-176; 202-PRO-PHE-203 AND 249-PRO--PRO-257. - Ref.26"The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1."
Greer W.L., Riddell D.C., Gillan T.L., Girouard G.S., Sparrow S.M., Byers D.M., Dobson M.J., Neumann P.E.
Am. J. Hum. Genet. 63:52-54(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPC1 TRP-992. - Ref.27"Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain."
Greer W.L., Dobson M.J., Girouard G.S., Byers D.M., Riddell D.C., Neumann P.E.
Am. J. Hum. Genet. 65:1252-1260(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 GLN-934; LEU-940; ASN-948; LEU-954; TRP-992; ALA-1007; THR-1061 AND VAL-1213. - Ref.28"Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype."
Millat G., Marcais C., Rafi M.A., Yamamoto T., Morris J.A., Pentchev P.G., Ohno K., Wenger D.A., Vanier M.T.
Am. J. Hum. Genet. 65:1321-1329(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NPC1 THR-1061. - Ref.29"NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C."
Yamamoto T., Nanba E., Ninomiya H., Higaki K., Taniguchi M., Zhang H., Akaboshi S., Watanabe Y., Takeshima T., Inui K., Okada S., Tanaka A., Sakuragawa N., Millat G., Vanier M.T., Morris J.A., Pentchev P.G., Ohno K.
Hum. Genet. 105:10-16(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1, VARIANTS ARG-215; VAL-858 AND GLN-1266. - Ref.30"Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts."
Yamamoto T., Ninomiya H., Matsumoto M., Ohta Y., Nanba E., Tsutsumi Y., Yamakawa K., Millat G., Vanier M.T., Pentchev P.G., Ohno K.
J. Med. Genet. 37:707-712(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 GLY-177; PRO-473; PRO-510; GLN-518; SER-703; MET-889; LEU-954; TYR-956; ARG-996; THR-1061; CYS-1088; ARG-1205; PHE-1213 AND GLU-1236, VARIANTS SER-237 AND ALA-873. - Ref.31"Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1."
Sun X., Marks D.L., Park W.D., Wheatley C.L., Puri V., O'Brien J.F., Kraft D.L., Lundquist P.A., Patterson M.C., Pagano R.E., Snow K.
Am. J. Hum. Genet. 68:1361-1372(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 ARG-92; MET-137; ASN-242; VAL-248; THR-401; GLN-404; ASP-612; TRP-652; CYS-789; CYS-825; VAL-874; SER-888; PRO-929; LEU-940; ASN-944; ASN-948; GLN-958; ARG-976; CYS-978; LEU-1004; ALA-1007; GLY-1023; THR-1061; LYS-1089; THR-1142; LYS-1150; SER-1156; MET-1165; HIS-1186 AND GLY-1189, VARIANT SER-237. - Ref.32"Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop."
Millat G., Marcais C., Tomasetto C., Chikh K., Fensom A.H., Harzer K., Wenger D.A., Ohno K., Vanier M.T.
Am. J. Hum. Genet. 68:1373-1385(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 HIS-242; ARG-272; ALA-378; GLN-404; GLN-518; VAL-605; ARG-631; PRO-724; PRO-775; CYS-825; VAL-874; GLN-934; MET-943; ASN-944; MET-950; SER-986; ARG-992; ALA-1007; THR-1054; THR-1061; THR-1142; TYR-1168 AND HIS-1186, VARIANT SER-237. - Ref.33"Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C."
Meiner V., Shpitzen S., Mandel H., Klar A., Ben-Neriah Z., Zlotogora J., Sagi M., Lossos A., Bargal R., Sury V., Carmi R., Leitersdorf E., Zeigler M.
Genet. Med. 3:343-348(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 ARG-63; GLN-404; VAL-927; TRP-992; ASP-1012 AND SER-1156. - Ref.34"Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations."
Ribeiro I., Marcao A., Amaral O., Sa Miranda M.C., Vanier M.T., Millat G.
Hum. Genet. 109:24-32(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 ARG-92; TYR-177; TRP-518; CYS-942; CYS-978; ALA-1007 VAL-1035 AND THR-1061, VARIANTS ARG-215; ILE-642 AND VAL-858. - Ref.35"Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease."
Kaminski W.E., Kluenemann H.H., Ibach B., Aslanidis C., Klein H.E., Schmitz G.
J. Inherit. Metab. Dis. 25:385-389(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 GLY-231; VAL-874 ASN-948 AND THR-1094, VARIANTS SER-237; CYS-381 AND ILE-642. - Ref.36"Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts."
Tarugi P., Ballarini G., Bembi B., Battisti C., Palmeri S., Panzani F., Di Leo E., Martini C., Federico A., Calandra S.
J. Lipid Res. 43:1908-1919(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 LYS-451; LEU-474; CYS-890; ASP-899; SER-910; TRP-992; ALA-1007; THR-1061 AND SER-1156, VARIANTS ARG-215; ILE-642 AND VAL-858. - Ref.37"Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease."
Blom T.S., Linder M.D., Snow K., Pihko H., Hess M.W., Jokitalo E., Veckman V., Syvaenen A.-C., Ikonen E.
Hum. Mol. Genet. 12:257-272(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT NPC1 ARG-113, VARIANT SER-237, CHARACTERIZATION OF VARIANT NPC1 ARG-113, CHARACTERIZATION OF VARIANT SER-237. - Ref.38"Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1."
Park W.D., O'Brien J.F., Lundquist P.A., Kraft D.L., Vockley C.W., Karnes P.S., Patterson M.C., Snow K.
Hum. Mutat. 22:313-325(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 TYR-74; SER-166; SER-222; TYR-247; PHE-380; PRO-388; CYS-389; TRP-404; LEU-433; SER-509; SER-521; LEU-543; CYS-615; ARG-640; SER-660; MET-664; VAL-673; PHE-684; LEU-691; VAL-695; ASN-700; ILE-734; LYS-742; GLU-745; VAL-767; GLY-789; ASN-945; ARG-1016; GLN-1059; LEU-1087; ILE-1137; VAL-1140; LYS-1205 AND GLY-1249, VARIANTS ARG-215; SER-237; SER-434 AND GLN-1266. - Ref.39"Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations."
Fernandez-Valero E.M., Ballart A., Iturriaga C., Lluch M., Macias J., Vanier M.T., Pineda M., Coll M.J.
Clin. Genet. 68:245-254(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 MET-137; TYR-177; TRP-372; LEU-434; LEU-474; TYR-479; ARG-576; MET-664; PHE-727; LYS-754; PRO-775; LEU-865; THR-926; CYS-942; ASN-944; HIS-948; GLU-959; 961-ASN--PHE-966 DELINS SER; ALA-1007; VAL-1035; LYS-1036; THR-1061; ASN-1066; ILE-1156; SER-1156 AND LEU-1224, VARIANTS ARG-215; ILE-642; VAL-858 AND GLN-1266. - Ref.40"Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C."
Yang C.-C., Su Y.-N., Chiou P.-C., Fietz M.J., Yu C.-L., Hwu W.-L., Lee M.-J.
J. Neurol. Neurosurg. Psych. 76:592-595(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 SER-968; VAL-1015; ARG-1034 AND LEU-1212, VARIANTS ARG-215; ILE-642; VAL-858 AND GLN-1266. - Ref.41"Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families."
Millat G., Baielo N., Molinero S., Rodriguez C., Chikh K., Vanier M.T.
Mol. Genet. Metab. 86:220-232(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 SER-166; TYR-177; PRO-404; LEU-537; LEU-543; LEU-615; ARG-631; LEU-763; CYS-825; LEU-862; LEU-865; CYS-871; TYR-917; GLN-934; LEU-940; MET-950; SER-968; ALA-992; ARG-992; TRP-992; ALA-1007; MET-1036; THR-1061; VAL-1062; ASN-1097; VAL-1174; HIS-1186; VAL-1216 AND ARG-1240, VARIANT MET-511. - Ref.42"Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?"
Dvorakova L., Sikora J., Hrebicek M., Hulkova H., Bouckova M., Stolnaja L., Elleder M.
J. Inherit. Metab. Dis. 29:591-591(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NPC1 ASN-666 AND SER-961.
Ref.1
"Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis."
Carstea E.D., Morris J.A., Coleman K.G., Loftus S.K., Zhang D., Cummings C., Gu J., Rosenfeld M.A., Pavan W.J., Krizman D.B., Nagle J., Polymeropoulos M.H., Sturley S.L., Ioannou Y.A., Higgins M.E., Comly M., Cooney A., Brown A. , Kaneski C.R., Blanchette-Mackie E.J., Dwyer N.K., Neufeld E.B., Chang T.-Y., Liscum L., Strauss J.F. III, Ohno K., Zeigler M., Carmi R., Sokol J., Markie D., O'Neill R.R., van Diggelen O.P., Elleder M., Patterson M.C., Brady R.O., Vanier M.T., Pentchev P.G., Tagle D.A.
Science 277:228-231(1997) [PubMed] [Europe PMC] [Abstract]
Carstea E.D., Morris J.A., Coleman K.G., Loftus S.K., Zhang D., Cummings C., Gu J., Rosenfeld M.A., Pavan W.J., Krizman D.B., Nagle J., Polymeropoulos M.H., Sturley S.L., Ioannou Y.A., Higgins M.E., Comly M., Cooney A., Brown A. , Kaneski C.R., Blanchette-Mackie E.J., Dwyer N.K., Neufeld E.B., Chang T.-Y., Liscum L., Strauss J.F. III, Ohno K., Zeigler M., Carmi R., Sokol J., Markie D., O'Neill R.R., van Diggelen O.P., Elleder M., Patterson M.C., Brady R.O., Vanier M.T., Pentchev P.G., Tagle D.A.
Science 277:228-231(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANT ILE-642, VARIANTS NPC1.
Ref.3
"NPC1: complete genomic sequence, mutation analysis, and characterization of haplotypes."
Bauer P., Knoblich R., Bauer C., Finckh U., Hufen A., Kropp J., Braun S., Kustermann-Kuhn B., Schmidt D., Harzer K., Rolfs A.
Hum. Mutat. 19:30-38(2002) [PubMed] [Europe PMC] [Abstract]
Bauer P., Knoblich R., Bauer C., Finckh U., Hufen A., Kropp J., Braun S., Kustermann-Kuhn B., Schmidt D., Harzer K., Rolfs A.
Hum. Mutat. 19:30-38(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS NPC1 ARG-512; TRP-670; CYS-825; ILE-849; VAL-874; TYR-948; LEU-954; LEU-958; ALA-1007 AND THR-1061, VARIANTS ARG-215; ILE-642; VAL-858; GLY-971 AND VAL-1049.
Ref.22
"Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection."
Gong X., Qian H., Zhou X., Wu J., Wan T., Cao P., Huang W., Zhao X., Wang X., Wang P., Shi Y., Gao G.F., Zhou Q., Yan N.
Cell 165:1467-1478(2016) [PubMed] [Europe PMC] [Abstract]
Gong X., Qian H., Zhou X., Wu J., Wan T., Cao P., Huang W., Zhao X., Wang X., Wang P., Shi Y., Gao G.F., Zhou Q., Yan N.
Cell 165:1467-1478(2016) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY ELECTRON MICROSCOPY (4.43 ANGSTROMS), FUNCTION, INTERACTION WITH NPC2 AND WITH EBOLAVIRUS GLYCOPROTEIN GP, TOPOLOGY, GLYCOSYLATION AT ASN-122; ASN-135; ASN-158; ASN-185; ASN-222; ASN-524; ASN-572; ASN-598 AND ASN-1064, DISULFIDE BONDS, CHARACTERIZATION OF VARIANT NPC1 TRP-518, MUTAGENESIS OF 25-CYS--PRO-257; 175-LEU-LEU-176; 202-PRO-PHE-203 AND 249-PRO--PRO-257.
Ref.26
"The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1."
Greer W.L., Riddell D.C., Gillan T.L., Girouard G.S., Sparrow S.M., Byers D.M., Dobson M.J., Neumann P.E.
Am. J. Hum. Genet. 63:52-54(1998) [PubMed] [Europe PMC] [Abstract]
Greer W.L., Riddell D.C., Gillan T.L., Girouard G.S., Sparrow S.M., Byers D.M., Dobson M.J., Neumann P.E.
Am. J. Hum. Genet. 63:52-54(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NPC1 TRP-992.
Ref.27
"Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain."
Greer W.L., Dobson M.J., Girouard G.S., Byers D.M., Riddell D.C., Neumann P.E.
Am. J. Hum. Genet. 65:1252-1260(1999) [PubMed] [Europe PMC] [Abstract]
Greer W.L., Dobson M.J., Girouard G.S., Byers D.M., Riddell D.C., Neumann P.E.
Am. J. Hum. Genet. 65:1252-1260(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 GLN-934; LEU-940; ASN-948; LEU-954; TRP-992; ALA-1007; THR-1061 AND VAL-1213.
Ref.28
"Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype."
Millat G., Marcais C., Rafi M.A., Yamamoto T., Morris J.A., Pentchev P.G., Ohno K., Wenger D.A., Vanier M.T.
Am. J. Hum. Genet. 65:1321-1329(1999) [PubMed] [Europe PMC] [Abstract]
Millat G., Marcais C., Rafi M.A., Yamamoto T., Morris J.A., Pentchev P.G., Ohno K., Wenger D.A., Vanier M.T.
Am. J. Hum. Genet. 65:1321-1329(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NPC1 THR-1061.
Ref.29
"NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C."
Yamamoto T., Nanba E., Ninomiya H., Higaki K., Taniguchi M., Zhang H., Akaboshi S., Watanabe Y., Takeshima T., Inui K., Okada S., Tanaka A., Sakuragawa N., Millat G., Vanier M.T., Morris J.A., Pentchev P.G., Ohno K.
Hum. Genet. 105:10-16(1999) [PubMed] [Europe PMC] [Abstract]
Yamamoto T., Nanba E., Ninomiya H., Higaki K., Taniguchi M., Zhang H., Akaboshi S., Watanabe Y., Takeshima T., Inui K., Okada S., Tanaka A., Sakuragawa N., Millat G., Vanier M.T., Morris J.A., Pentchev P.G., Ohno K.
Hum. Genet. 105:10-16(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1, VARIANTS ARG-215; VAL-858 AND GLN-1266.
Ref.30
"Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts."
Yamamoto T., Ninomiya H., Matsumoto M., Ohta Y., Nanba E., Tsutsumi Y., Yamakawa K., Millat G., Vanier M.T., Pentchev P.G., Ohno K.
J. Med. Genet. 37:707-712(2000) [PubMed] [Europe PMC] [Abstract]
Yamamoto T., Ninomiya H., Matsumoto M., Ohta Y., Nanba E., Tsutsumi Y., Yamakawa K., Millat G., Vanier M.T., Pentchev P.G., Ohno K.
J. Med. Genet. 37:707-712(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 GLY-177; PRO-473; PRO-510; GLN-518; SER-703; MET-889; LEU-954; TYR-956; ARG-996; THR-1061; CYS-1088; ARG-1205; PHE-1213 AND GLU-1236, VARIANTS SER-237 AND ALA-873.
Ref.31
"Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1."
Sun X., Marks D.L., Park W.D., Wheatley C.L., Puri V., O'Brien J.F., Kraft D.L., Lundquist P.A., Patterson M.C., Pagano R.E., Snow K.
Am. J. Hum. Genet. 68:1361-1372(2001) [PubMed] [Europe PMC] [Abstract]
Sun X., Marks D.L., Park W.D., Wheatley C.L., Puri V., O'Brien J.F., Kraft D.L., Lundquist P.A., Patterson M.C., Pagano R.E., Snow K.
Am. J. Hum. Genet. 68:1361-1372(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 ARG-92; MET-137; ASN-242; VAL-248; THR-401; GLN-404; ASP-612; TRP-652; CYS-789; CYS-825; VAL-874; SER-888; PRO-929; LEU-940; ASN-944; ASN-948; GLN-958; ARG-976; CYS-978; LEU-1004; ALA-1007; GLY-1023; THR-1061; LYS-1089; THR-1142; LYS-1150; SER-1156; MET-1165; HIS-1186 AND GLY-1189, VARIANT SER-237.
Ref.32
"Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop."
Millat G., Marcais C., Tomasetto C., Chikh K., Fensom A.H., Harzer K., Wenger D.A., Ohno K., Vanier M.T.
Am. J. Hum. Genet. 68:1373-1385(2001) [PubMed] [Europe PMC] [Abstract]
Millat G., Marcais C., Tomasetto C., Chikh K., Fensom A.H., Harzer K., Wenger D.A., Ohno K., Vanier M.T.
Am. J. Hum. Genet. 68:1373-1385(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 HIS-242; ARG-272; ALA-378; GLN-404; GLN-518; VAL-605; ARG-631; PRO-724; PRO-775; CYS-825; VAL-874; GLN-934; MET-943; ASN-944; MET-950; SER-986; ARG-992; ALA-1007; THR-1054; THR-1061; THR-1142; TYR-1168 AND HIS-1186, VARIANT SER-237.
Ref.33
"Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C."
Meiner V., Shpitzen S., Mandel H., Klar A., Ben-Neriah Z., Zlotogora J., Sagi M., Lossos A., Bargal R., Sury V., Carmi R., Leitersdorf E., Zeigler M.
Genet. Med. 3:343-348(2001) [PubMed] [Europe PMC] [Abstract]
Meiner V., Shpitzen S., Mandel H., Klar A., Ben-Neriah Z., Zlotogora J., Sagi M., Lossos A., Bargal R., Sury V., Carmi R., Leitersdorf E., Zeigler M.
Genet. Med. 3:343-348(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 ARG-63; GLN-404; VAL-927; TRP-992; ASP-1012 AND SER-1156.
Ref.34
"Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations."
Ribeiro I., Marcao A., Amaral O., Sa Miranda M.C., Vanier M.T., Millat G.
Hum. Genet. 109:24-32(2001) [PubMed] [Europe PMC] [Abstract]
Ribeiro I., Marcao A., Amaral O., Sa Miranda M.C., Vanier M.T., Millat G.
Hum. Genet. 109:24-32(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 ARG-92; TYR-177; TRP-518; CYS-942; CYS-978; ALA-1007 VAL-1035 AND THR-1061, VARIANTS ARG-215; ILE-642 AND VAL-858.
Ref.35
"Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease."
Kaminski W.E., Kluenemann H.H., Ibach B., Aslanidis C., Klein H.E., Schmitz G.
J. Inherit. Metab. Dis. 25:385-389(2002) [PubMed] [Europe PMC] [Abstract]
Kaminski W.E., Kluenemann H.H., Ibach B., Aslanidis C., Klein H.E., Schmitz G.
J. Inherit. Metab. Dis. 25:385-389(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 GLY-231; VAL-874 ASN-948 AND THR-1094, VARIANTS SER-237; CYS-381 AND ILE-642.
Ref.36
"Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts."
Tarugi P., Ballarini G., Bembi B., Battisti C., Palmeri S., Panzani F., Di Leo E., Martini C., Federico A., Calandra S.
J. Lipid Res. 43:1908-1919(2002) [PubMed] [Europe PMC] [Abstract]
Tarugi P., Ballarini G., Bembi B., Battisti C., Palmeri S., Panzani F., Di Leo E., Martini C., Federico A., Calandra S.
J. Lipid Res. 43:1908-1919(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 LYS-451; LEU-474; CYS-890; ASP-899; SER-910; TRP-992; ALA-1007; THR-1061 AND SER-1156, VARIANTS ARG-215; ILE-642 AND VAL-858.
Ref.37
"Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease."
Blom T.S., Linder M.D., Snow K., Pihko H., Hess M.W., Jokitalo E., Veckman V., Syvaenen A.-C., Ikonen E.
Hum. Mol. Genet. 12:257-272(2003) [PubMed] [Europe PMC] [Abstract]
Blom T.S., Linder M.D., Snow K., Pihko H., Hess M.W., Jokitalo E., Veckman V., Syvaenen A.-C., Ikonen E.
Hum. Mol. Genet. 12:257-272(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT NPC1 ARG-113, VARIANT SER-237, CHARACTERIZATION OF VARIANT NPC1 ARG-113, CHARACTERIZATION OF VARIANT SER-237.
Ref.38
"Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1."
Park W.D., O'Brien J.F., Lundquist P.A., Kraft D.L., Vockley C.W., Karnes P.S., Patterson M.C., Snow K.
Hum. Mutat. 22:313-325(2003) [PubMed] [Europe PMC] [Abstract]
Park W.D., O'Brien J.F., Lundquist P.A., Kraft D.L., Vockley C.W., Karnes P.S., Patterson M.C., Snow K.
Hum. Mutat. 22:313-325(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 TYR-74; SER-166; SER-222; TYR-247; PHE-380; PRO-388; CYS-389; TRP-404; LEU-433; SER-509; SER-521; LEU-543; CYS-615; ARG-640; SER-660; MET-664; VAL-673; PHE-684; LEU-691; VAL-695; ASN-700; ILE-734; LYS-742; GLU-745; VAL-767; GLY-789; ASN-945; ARG-1016; GLN-1059; LEU-1087; ILE-1137; VAL-1140; LYS-1205 AND GLY-1249, VARIANTS ARG-215; SER-237; SER-434 AND GLN-1266.
Ref.39
"Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations."
Fernandez-Valero E.M., Ballart A., Iturriaga C., Lluch M., Macias J., Vanier M.T., Pineda M., Coll M.J.
Clin. Genet. 68:245-254(2005) [PubMed] [Europe PMC] [Abstract]
Fernandez-Valero E.M., Ballart A., Iturriaga C., Lluch M., Macias J., Vanier M.T., Pineda M., Coll M.J.
Clin. Genet. 68:245-254(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 MET-137; TYR-177; TRP-372; LEU-434; LEU-474; TYR-479; ARG-576; MET-664; PHE-727; LYS-754; PRO-775; LEU-865; THR-926; CYS-942; ASN-944; HIS-948; GLU-959; 961-ASN--PHE-966 DELINS SER; ALA-1007; VAL-1035; LYS-1036; THR-1061; ASN-1066; ILE-1156; SER-1156 AND LEU-1224, VARIANTS ARG-215; ILE-642; VAL-858 AND GLN-1266.
Ref.40
"Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C."
Yang C.-C., Su Y.-N., Chiou P.-C., Fietz M.J., Yu C.-L., Hwu W.-L., Lee M.-J.
J. Neurol. Neurosurg. Psych. 76:592-595(2005) [PubMed] [Europe PMC] [Abstract]
Yang C.-C., Su Y.-N., Chiou P.-C., Fietz M.J., Yu C.-L., Hwu W.-L., Lee M.-J.
J. Neurol. Neurosurg. Psych. 76:592-595(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 SER-968; VAL-1015; ARG-1034 AND LEU-1212, VARIANTS ARG-215; ILE-642; VAL-858 AND GLN-1266.
Ref.41
"Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families."
Millat G., Baielo N., Molinero S., Rodriguez C., Chikh K., Vanier M.T.
Mol. Genet. Metab. 86:220-232(2005) [PubMed] [Europe PMC] [Abstract]
Millat G., Baielo N., Molinero S., Rodriguez C., Chikh K., Vanier M.T.
Mol. Genet. Metab. 86:220-232(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 SER-166; TYR-177; PRO-404; LEU-537; LEU-543; LEU-615; ARG-631; LEU-763; CYS-825; LEU-862; LEU-865; CYS-871; TYR-917; GLN-934; LEU-940; MET-950; SER-968; ALA-992; ARG-992; TRP-992; ALA-1007; MET-1036; THR-1061; VAL-1062; ASN-1097; VAL-1174; HIS-1186; VAL-1216 AND ARG-1240, VARIANT MET-511.
Ref.42
"Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?"
Dvorakova L., Sikora J., Hrebicek M., Hulkova H., Bouckova M., Stolnaja L., Elleder M.
J. Inherit. Metab. Dis. 29:591-591(2006) [PubMed] [Europe PMC] [Abstract]
Dvorakova L., Sikora J., Hrebicek M., Hulkova H., Bouckova M., Stolnaja L., Elleder M.
J. Inherit. Metab. Dis. 29:591-591(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPC1 ASN-666 AND SER-961.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected.
Related information in OMIM| 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_043172 | 63 | C → R in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043173 | 74 | C → Y in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043174 | 92 | Q → R in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043175 | 113 | C → R in NPC1; partially mislocalized from late endocytic organelles diffusely to the cell periphery; localizes to the endoplasmic reticulum Rab7-negative endosomes and the cell surface; does not clears the lysosomal cholesterol accumulation in NPC1-deficient cells. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043176 | 137 | T → M in NPC1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043178 | 166 | P → S in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008815 | 177 | C → G in NPC1; late infantile form. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_015561 | 177 | C → Y in NPC1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043179 | 222 | N → S in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043180 | 231 | V → G in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043181 | 242 | D → H in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043182 | 242 | D → N in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043183 | 247 | C → Y in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043184 | 248 | G → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043185 | 272 | M → R in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043187 | 372 | R → W in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_015562 | 378 | V → A in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043188 | 380 | L → F in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043190 | 388 | A → P in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043191 | 389 | R → C in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043192 | 401 | P → T in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043193 | 404 | R → P in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043194 | 404 | R → Q in NPC1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043195 | 404 | R → W in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043196 | 433 | P → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043197 | 434 | P → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043199 | 451 | E → K in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008820 | 473 | S → P in NPC1; late infantile form. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043200 | 474 | P → L in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043201 | 479 | C → Y in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043202 | 509 | Y → S in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008821 | 510 | H → P in NPC1; late infantile form. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043204 | 512 | H → R in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008822 | 518 | R → Q in NPC1; late infantile form; Common in Japanese. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043205 | 518 | R → W in NPC1; decreased affinity for NPC2; decreased cholesterol transfer from NPC2 to NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043206 | 521 | A → S in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043207 | 537 | F → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043208 | 543 | P → L in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043209 | 574 | T → K in NPC1. | 1 | |
| Natural variantiVAR_043210 | 576 | K → R in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043211 | 605 | A → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043212 | 612 | E → D in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043213 | 615 | R → C in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043214 | 615 | R → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043215 | 631 | M → R in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043216 | 640 | G → R in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043217 | 652 | S → W in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043218 | 660 | G → S in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043219 | 664 | V → M in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043220 | 666 | S → N in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043221 | 670 | C → W in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043222 | 673 | G → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043223 | 684 | L → F in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043224 | 691 | P → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043225 | 695 | L → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043226 | 700 | D → N in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043227 | 703 | F → S in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043228 | 724 | L → P in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043229 | 727 | V → F in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043230 | 734 | S → I in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043231 | 742 | E → K in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043232 | 745 | A → E in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043233 | 754 | M → K in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043234 | 763 | F → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043235 | 767 | A → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043236 | 775 | Q → P in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043237 | 789 | R → C in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043238 | 789 | R → G in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043239 | 825 | Y → C in NPC1. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043240 | 849 | S → I in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043241 | 862 | Q → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043242 | 865 | S → L in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043243 | 871 | Y → C in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043245 | 874 | D → V in NPC1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043246 | 888 | P → S in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008826 | 889 | V → M in NPC1; adult form. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043247 | 890 | Y → C in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043248 | 899 | Y → D in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043249 | 910 | G → S in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043250 | 917 | D → Y in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043251 | 926 | A → T in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043252 | 927 | A → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008827 | 928 | Q → P in NPC1. Corresponds to variant dbSNP:rs28940897EnsemblClinVar. | 1 | |
| Natural variantiVAR_043253 | 929 | L → P in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008828 | 934 | R → Q in NPC1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008829 | 940 | S → L in NPC1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043254 | 942 | W → C in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043255 | 943 | I → M in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043256 | 944 | D → N in NPC1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043257 | 945 | D → N in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043258 | 948 | D → H in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008830 | 948 | D → N in NPC1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043259 | 948 | D → Y in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_015563 | 950 | V → M in NPC1; adult form. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008831 | 954 | S → L in NPC1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008832 | 956 | C → Y in NPC1; late infantile form. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043260 | 958 | R → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_015564 | 958 | R → Q in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043261 | 959 | V → E in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043262 | 961 – 966 | NITDQF → S in NPC1. 1 Publication Manual assertion based on experiment ini
| 6 | |
| Natural variantiVAR_043263 | 961 | N → S in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043264 | 968 | N → S in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043266 | 976 | C → R in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_015565 | 978 | R → C in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043267 | 986 | G → S in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043268 | 992 | G → A in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_015566 | 992 | G → R in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008833 | 992 | G → W in NPC1; found in the Nova Scotian clinical variant. 5 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043269 | 996 | M → R in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043270 | 1004 | S → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008834 | 1007 | P → A in NPC1. 7 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043271 | 1012 | G → D in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043272 | 1015 | G → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043273 | 1016 | H → R in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043274 | 1023 | V → G in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043275 | 1034 | G → R in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_015567 | 1035 | A → V in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043276 | 1036 | T → K in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008835 | 1036 | T → M in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043278 | 1054 | A → T in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043279 | 1059 | R → Q in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008836 | 1061 | I → T in NPC1; late infantile form. 10 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043280 | 1062 | A → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043281 | 1066 | T → N in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043282 | 1087 | F → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008837 | 1088 | Y → C in NPC1; juvenile form. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043283 | 1089 | E → K in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043284 | 1094 | I → T in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043285 | 1097 | D → N in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043286 | 1137 | N → I in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043287 | 1140 | G → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043288 | 1142 | M → T in NPC1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043289 | 1150 | N → K in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043290 | 1156 | N → I in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008838 | 1156 | N → S in NPC1. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043291 | 1165 | V → M in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008839 | 1167 | F → L in NPC1. | 1 | |
| Natural variantiVAR_043292 | 1168 | C → Y in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043293 | 1174 | A → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008840 | 1186 | R → H in NPC1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043294 | 1189 | E → G in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043295 | 1205 | T → K in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043296 | 1205 | T → R in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043297 | 1212 | V → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008841 | 1213 | L → F in NPC1; juvenile form. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008842 | 1213 | L → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043298 | 1216 | A → V in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043299 | 1224 | F → L in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043300 | 1236 | G → E in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043301 | 1240 | G → R in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_043302 | 1249 | S → G in NPC1. 1 Publication Manual assertion based on experiment ini
| 1 |
Mutagenesis
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 25 – 257 | Missing : Decreases affinity for NPC2. Abolishes cholesterol transfer from NPC2 to NPC1. 1 Publication Manual assertion based on experiment ini
| 233 | |
| Mutagenesisi | 26 – 27 | VW → AA: Nearly abolishes 25-hydroxycholesterol binding. Reduces cholesterol binding. 1 Publication Manual assertion based on experiment ini
| 2 | |
| Mutagenesisi | 39 – 41 | RYN → AAA: Strongly reduces cholesterol and 25-hydroxycholesterol binding. 1 Publication Manual assertion based on experiment ini
| 3 | |
| Mutagenesisi | 41 | N → A: Nearly abolishes cholesterol and 25-hydroxycholesterol binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 63 | C → S: Loss of function. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 70 | N → Q: Reduces glycosylation; when associated with Q-122 and Q-185. No effect on cholesterol and 25-hydroxycholesterol binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 74 – 75 | CC → SS: Loss of function. 1 Publication Manual assertion based on experiment ini
| 2 | |
| Mutagenesisi | 82 – 83 | TL → AA: Strongly reduces cholesterol and 25-hydroxycholesterol binding. 1 Publication Manual assertion based on experiment ini
| 2 | |
| Mutagenesisi | 88 | Q → A: Decreased affinity for NPC2 and decreased cholesterol transfer from NPC2 to NPC1; when associated with A-92 and A-96. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 92 | Q → A: Decreased affinity for NPC2 and decreased cholesterol transfer from NPC2 to NPC1; when associated with A-88 and A-96. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 96 | R → A: Decreased affinity for NPC2 and decreased cholesterol transfer from NPC2 to NPC1; when associated with A-88 and A-92. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 97 | C → S: Loss of function. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 101 – 102 | FY → AA: Strongly reduces 25-hydroxycholesterol binding. No effect on cholesterol binding. 1 Publication Manual assertion based on experiment ini
| 2 | |
| Mutagenesisi | 106 – 108 | NLF → AAA: Nearly abolishes cholesterol and 25-hydroxycholesterol binding. 1 Publication Manual assertion based on experiment ini
| 3 | |
| Mutagenesisi | 110 – 112 | ELT → AAA: No effect on cholesterol and 25-hydroxycholesterol binding and transfer. 1 Publication Manual assertion based on experiment ini
| 3 | |
| Mutagenesisi | 122 | N → Q: Reduces glycosylation; when associated with Q-70 and Q-185. No effect on cholesterol and 25-hydroxycholesterol binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 144 – 145 | LQ → AA: Strongly reduces 25-hydroxycholesterol binding. No effect on cholesterol binding. 1 Publication Manual assertion based on experiment ini
|