NPC2
Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment. 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. The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport. Belongs to the NPC2 family. Detected in gallbladder bile (PubMed:21315718). Detected in fibroblasts, kidney, liver, spleen, small intestine, placenta and testis (at protein level) (PubMed:11125141). Epididymis. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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Protein type: Secreted; Secreted, signal peptide |
Chromosomal Location of human Ortholog: 14q24.3 |
Cellular Component:
azurophil granule lumen; endoplasmic reticulum; extracellular region; extracellular space; lysosomal lumen; lysosome
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Molecular Function:
cholesterol binding; cholesterol transfer activity; enzyme binding; protein binding
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Biological Process:
cholesterol efflux; cholesterol homeostasis; cholesterol metabolic process; cholesterol storage; cholesterol transport; gene expression; glycolipid transport; intermembrane lipid transfer; intracellular cholesterol transport; intracellular sterol transport; phospholipid transport; regulation of isoprenoid metabolic process; response to virus
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Disease: Niemann-pick Disease, Type C2
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Reference #:
P61916
(UniProtKB)
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Alt. Names/Synonyms: EDDM1; epididymal protein 1; Epididymal secretory protein E1; epididymis secretory sperm binding protein; HE1; Human epididymis-specific protein 1; MGC1333; Niemann-Pick disease type C2 protein; Niemann-Pick disease, type C2; NPC intracellular cholesterol transporter 2; NPC2; tissue-specific secretory protein
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Gene Symbols: NPC2
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Molecular weight:
16,570 Da
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Basal Isoelectric point:
7.57
Predict pI for various phosphorylation states
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