| Gene Symbol |
NPC1L1
|
| Entrez Gene |
29881
|
| Alt Symbol |
NPC11L1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
NPC1-like 1
|
| Other Description |
NPC1 (Niemann-Pick disease, type C1, gene)-like 1|Niemann-Pick C1-like protein 1
|
| Swissprots |
D3DVK9 A4D2J7 Q6R3Q4 Q17RV5 B7ZLE6 Q9UHC8 Q9UHC9
|
| Accessions |
EAL23753 EAW61096 EAW61097 EAW61098 Q9UHC9 AF192522 AAF20396 AF192523 AAF20397 AY437865 AAR97886 AY515256 AAS56939 AY927603 BC117178 AAI17179 BC143731 BC143756 AAI43757 FJ481111 ACL18055 XM_011515326 XP_011513628 XM_011515327 XP_011513629 XM_011515328 XP_011513630 NM_001101648 NP_001095118 NM_001300967 NP_001287896 NM_013389 NP_037521
|
| Function |
Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down- regulates its expression and secretion by inhibiting its maturation and accelerating its degradation. {ECO:0000269|PubMed:15928087, ECO:0000269|PubMed:22095670}.
|
| Subcellular Location |
Apical cell membrane {ECO:0000269|PubMed:15671032}; Multi-pass membrane protein {ECO:0000269|PubMed:15671032}. Cell membrane {ECO:0000250}; Multi- pass membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:15671032}; Multi-pass membrane protein {ECO:0000269|PubMed:15671032}. Note=Subfractionation of brush border membranes from proximal enterocytes suggests considerable association with the apical membrane fraction. Exists as a predominantly cell surface membrane expressed protein (By similarity). According to PubMed:15671032, localizes in a subcellular vesicular compartment rich in RAB5. {ECO:0000250}.
|
| Tissue Specificity |
Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle. {ECO:0000269|PubMed:10783261, ECO:0000269|PubMed:14976318, ECO:0000269|PubMed:15671032}.
|
| Top Pathways |
Fat digestion and absorption
|