Npc2
entrez
67963
canonical
uniprot
Q9Z0J0
canonical
ensembl
ENSMUSG00000021242
resolver
ensp
ENSMUSP00000021668
resolver
enst
ENSMUST00000021668
resolver
genesymbol
Npc2
resolver
uniprot
Q3UB23
resolver
uniprot_entry
NPC2_MOUSE
resolver
uniprot_sec
Q3UB23
resolver
amino_acid_sequence
MRFLAATILLLALVAASQAEPLHFKDCGSKVGVIKEVNVSPCPTDPCQLHKGQSYSVNITFTSGTQSQNSTALVHGILEGIRVPFPIPEPDGCKSGINCPIQKDKVYSYLNKLPVKNEYPSIKLVVEWKLEDDKKNNLFCWEIPVQITS
uniprot
proteins
function
FUNCTION: Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:12591949, PubMed:17018531, PubMed:21315718, PubMed:26296895). 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. May bind and mobilize cholesterol that is associated with membranes. NPC2 binds cholesterol with a 1:1 stoichiometry. Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol (By similarity). The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (PubMed:21315718). {ECO:0000250|UniProtKB:P61916, ECO:0000269|PubMed:12591949, ECO:0000269|PubMed:17018531, ECO:0000269|PubMed:21315718, ECO:0000269|PubMed:26296895}.
uniprot
proteins
mass_dalton
16442
uniprot
proteins
mutagenesis
MUTAGEN 48; /note="Q->A: Strongly decreased cholesterol export."; /evidence="ECO:0000269|PubMed:26296895"; MUTAGEN 50; /note="H->A: Strongly decreased cholesterol export."; /evidence="ECO:0000269|PubMed:26296895"; MUTAGEN 51; /note="K->A: Decreased cholesterol binding. Strongly decreased cholesterol transport activity."; /evidence="ECO:0000269|PubMed:12591949, ECO:0000269|PubMed:26296895"; MUTAGEN 58; /note="N->A: Decreased cholesterol binding. Strongly decreased cholesterol transport activity."; /evidence="ECO:0000269|PubMed:26296895"; MUTAGEN 81; /note="I->D: No effect on cholesterol binding. Strongly decreased cholesterol transport activity."; /evidence="ECO:0000269|PubMed:26296895"; MUTAGEN 83; /note="V->A: No effect on cholesterol binding. Strongly decreased cholesterol transport activity."; /evidence="ECO:0000269|PubMed:26296895"; MUTAGEN 85; /note="F->A: Loss of cholesterol binding. Abolishes cholesterol transport activity."; /evidence="ECO:0000269|PubMed:12591949"; MUTAGEN 91; /note="D->A: Decreased cholesterol binding. Nearly abolishes cholesterol transport activity."; /evidence="ECO:0000269|PubMed:12591949, ECO:0000269|PubMed:26296895"; MUTAGEN 91; /note="D->A: No significant effect on biliary cholesterol secretion."; /evidence="ECO:0000269|PubMed:21315718"; MUTAGEN 94; /note="K->A: Decreased cholesterol binding. Nearly abolishes cholesterol transport activity."; /evidence="ECO:0000269|PubMed:12591949, ECO:0000269|PubMed:26296895"; MUTAGEN 104; /note="D->A: Decreased cholesterol binding. Strongly decreased cholesterol transport activity."; /evidence="ECO:0000269|PubMed:26296895"; MUTAGEN 115; /note="V->F: Loss of cholesterol binding. Abolishes cholesterol transport activity. Abolishes stimulation of biliary cholesterol secretion."; /evidence="ECO:0000269|PubMed:12591949, ECO:0000269|PubMed:21315718"; MUTAGEN 119; /note="Y->A: Loss of cholesterol binding. Abolishes cholesterol transport activity."; /evidence="ECO:0000269|PubMed:12591949"; MUTAGEN 127; /note="E->A: Strongly decreased cholesterol export."; /evidence="ECO:0000269|PubMed:26296895"; MUTAGEN 132; /note="D->A: No effect on cholesterol binding. Strongly decreased cholesterol transport activity."; /evidence="ECO:0000269|PubMed:26296895"; MUTAGEN 134; /note="K->A: No effect on cholesterol binding. Strongly decreased cholesterol transport activity."; /evidence="ECO:0000269|PubMed:26296895
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:10863096}.
uniprot
proteins
protein_family
NPC2 family
uniprot
proteins
pubmed
10863096
uniprot
proteins
pubmed
12591949
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
17018531
uniprot
proteins
pubmed
19232397
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21315718
uniprot
proteins
pubmed
21412152
uniprot
proteins
pubmed
23806337
uniprot
proteins
pubmed
26296895
uniprot
proteins
sequence_length
149
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10863096, ECO:0000269|PubMed:12591949, ECO:0000269|PubMed:21315718}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P61916}. Lysosome {ECO:0000250|UniProtKB:P61916}. Note=Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes. {ECO:0000305|PubMed:12591949}.
uniprot
proteins