Sequence Detail

ID/Version

O35604 G3X8W9 O35605 (UniProt | EBI)

Last sequence update: 2013-02-06
Last annotation update: 2024-03-27

Sequence description from provider

RecName: Full=NPC intracellular cholesterol transporter 1 {ECO:0000312|MGI:MGI:1097712};AltName: Full=Niemann-Pick C1 protein {ECO:0000303|PubMed:9211850};Flags: Precursor;

Provider

SWISS-PROT

Sequence

Polypeptide 1277 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Npc1	NPC intracellular cholesterol transporter 1	78	100	3	26

Sequence references in MGI

J:41469 Loftus SK, et al., Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene [see comments]. Science. 1997 Jul 11;277(5323):232-5
J:107557 Karten B, et al., The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals. J Lipid Res. 2006 Mar;47(3):504-14
J:176587 Xie X, et al., Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice. Proc Natl Acad Sci U S A. 2011 Sep 13;108(37):15330-5
J:179744 Maue RA, et al., A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. Hum Mol Genet. 2012 Feb 15;21(4):730-50
J:180176 Deffieu MS, et al., Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding. Proc Natl Acad Sci U S A. 2011 Nov 22;108(47):18932-6
J:235586 Li X, et al., Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2. Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10079-84
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89