| Gene Information | |
|---|---|
| Gene Name | NPC1L1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1359 |
| Protein Names | NPC1-like intracellular cholesterol transporter 1 (NPC1L1) (Niemann-Pick C1-like protein 1) |
| Target Name | niemann-pick c1-like protein 1 |
| Target Type | Successful target |
| Gene Age | 1488 ( ENSG00000015520 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q9UHC9 |
| Gene Card | NPC1L1 |
| Uniprot ID | Q9UHC9 |
| Pfam | PF16414; PF02460; PF12349 |
| In ASD | no |
| Allosteric Prediction | yes (0.356730664) |
| Ortholog in Animals | Alpaca_ NPC1L1 ( ortholog_one2one ) Dog_ NPC1L1 ( ortholog_one2one ) Macaque_ NPC1L1 ( ortholog_one2one ) Mouse_ Npc1l1 ( ortholog_one2one ) Pig_ NPC1L1 ( ortholog_one2one ) Rat_ Npc1l1 ( ortholog_one2one ) Rabbit_ NPC1L1 ( ortholog_one2one ) |
| Ohnologs | NPC1 |
| Paralogs | DISP1, DISP3, SCAP, NPC1, PTCHD1, PTCH2, PTCHD3, PTCHD4, DISP2, PTCH1 |
| Tissue | duodenum, liver, small.intestine |
| 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}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 3QNT (X-ray 2.83A ) 7DF8 (EM 3.03A ) 7DFW (EM 2.69A ) 7DFZ (EM 3.58A ) 7N4U (EM 3.34A ) 7N4V (EM 3.58A ) 7N4X (EM 3.33A ) |
| DBSNP | rs119457968 rs1468384 rs52815063 rs217435 |
| Subcellular location [CC] | Apical cell membrane {ECO:0000269|PubMed:15671032}; Multi-pass membrane protein {ECO:0000269|PubMed:15671032}. Cell membrane {ECO:0000250|UniProtKB:Q6T3U3}; 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}. |
| Mouse PG classification | NA |
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