NPC1 (Niemann-Pick disease, type C1)

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Keyword

Gene: NPC1 (Niemann-Pick disease, type C1) Homo sapiens

Symbol:

NPC1

Name:

Niemann-Pick disease, type C1

Description:

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]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

FLJ98532; Niemann-Pick C1 protein; NPC; OTTHUMP00000162699

Orthologs:

Mus musculus : Npc1 (Niemann Pick type C1) MGI
Rattus norvegicus : Npc1 (Niemann-Pick disease, type C1)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	18	21,106,392 - 21,161,514	-	NCBI
Human Genome Assembly HuRef	18	17,966,414 - 18,021,712	-	NCBI
Human Genome Assembly GRCh37	18	21,111,463 - 21,166,581	-	NCBI
Human Genome Assembly Build 36	18	19,365,461 - 19,420,468	-	NCBI
Human Cytogenetic Map	18	q11.2		NCBI
Human Genome Assembly	18	19,365,461 - 19,420,426		NCBI