NPC1

GENE INFORMATION

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Gene name

NPC1

Synonyms

Description

Niemann-Pick disease, type C1 (HGNC Symbol)

Entrez gene summary

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]

Chromosome

18 (Chromosome progress)

Cytoband

q11.2

Chromosome location (bp)

21086307 - 21166862

Ensembl

ENSG00000141458 (version 73.37)

Entrez gene

4864

UniProt

O15118 (UniProt - Evidence at protein level)

neXtProt

NX_O15118

Antibodypedia

NPC1 antibodies
 

PROTEIN VIEW

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NPC1-001
 
NPC1-002
 
NPC1-003
 
NPC1-012
 
NPC1-013
 
NPC1-014
 
NPC1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NPC1-001 ENSP00000269228
ENST00000269228
O15118
Show all »
Show » Show » 1278 142.2 Yes >9
NPC1-002 ENSP00000468438
ENST00000591107
Show » Show » 179 19.7 No 5
NPC1-003 ENSP00000467636
ENST00000591051
B4DET3
Show all »
Show » Show » 971 108.1 No >9
NPC1-012 ENSP00000468321
ENST00000586150
Show » Show » 175 19.2 No 6
NPC1-013 ENSP00000467150
ENST00000593280
Show » 42 4.6 No 1
NPC1-014 ENSP00000464755
ENST00000590723
K7EIH7
Show all »
Show » Show » 59 6.5 No 2
NPC1-201 ENSP00000408606
ENST00000412552
B4DET3
Show all »
Show » Show » 960 107 No >9