| Gene Symbol | NPC2 |
|---|---|
| Entrez Gene | 403920 |
| Alt Symbol | CE1 |
| Species | Dog |
| Gene Type | protein-coding |
| Description | Niemann-Pick disease, type C2 |
| Other Description | epididymal secretory protein E1|niemann Pick type C2 protein homolog |
| Swissprots | Q28895 |
| Accessions | Q28895 DN346847 DN348892 DN349868 DN392295 S77411 AAB34263 NM_001003242 NP_001003242 |
| Function | Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (By similarity). {ECO:0000250}. |
| Subcellular Location | Secreted {ECO:0000305}. Endoplasmic reticulum {ECO:0000250}. Lysosome {ECO:0000250}. |
| Tissue Specificity | Epididymis. High levels are found in the caput and corpus regions. Weaker levels in the distal cauda and in the efferent ducts. {ECO:0000269|PubMed:7744512}. |
| Top Pathways | Lysosome |
Epididymal secretory protein E1 antibody - orb242497 from Biorbyt
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Epididymal secretory protein E1 Antibody - abx109418 from Abbexa
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Epididymal secretory protein E1 Antibody (Biotin) - abx106265 from Abbexa
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Epididymal secretory protein E1 Antibody (FITC) - abx107679 from Abbexa
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Epididymal secretory protein E1 Antibody (HRP) - abx109096 from Abbexa
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NPC2 Antibody,Biotin conjugated - CSB-PA634688LD01DO from Cusabio
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NPC2 Antibody,FITC conjugated - CSB-PA634688LC01DO from Cusabio
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NPC2 Antibody,HRP conjugated - CSB-PA634688LB01DO from Cusabio
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NPC2 Antibody - CSB-PA634688LA01DO from Cusabio
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Epididymal secretory protein E1 antibody (Biotin) - orb242498 from Biorbyt
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Epididymal secretory protein E1, Polyclonal Antibody - MBS1498440 from MyBioSource
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Epididymal secretory protein E1, Polyclonal Antibody - MBS1498009 from MyBioSource
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Epididymal secretory protein E1, Polyclonal Antibody - MBS1494196 from MyBioSource
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Epididymal secretory protein E1, Polyclonal Antibody - MBS1492425 from MyBioSource
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Epididymal secretory protein E1 antibody (HRP) - orb242500 from Biorbyt
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