| Gene Information | |
|---|---|
| Gene Name | NPC1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1278 |
| Protein Names | NPC intracellular cholesterol transporter 1 (Niemann-Pick C1 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1488 ( ENSG00000141458 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | O15118 |
| Gene Card | NPC1 |
| Uniprot ID | O15118 |
| Pfam | PF16414; PF02460; PF12349 |
| In ASD | yes |
| Allosteric Prediction | yes (0.339749728) |
| Ortholog in Animals | Alpaca_ NPC1 ( ortholog_one2one ) Dog_ NPC1 ( ortholog_one2one ) GuineaPig_ NPC1 ( ortholog_one2one ) Macaque_ NPC1 ( ortholog_one2one ) Mouse_ Npc1 ( ortholog_one2one ) Pig_ NPC1 ( ortholog_one2one ) Rat_ Npc1 ( ortholog_one2one ) Rabbit_ NPC1 ( ortholog_one2one ) |
| Ohnologs | NPC1L1 |
| Paralogs | DISP1, DISP3, SCAP, PTCHD1, PTCH2, PTCHD3, PTCHD4, NPC1L1, DISP2, PTCH1 |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3GKH (X-ray 1.81A ) 3GKI (X-ray 1.80A ) 3GKJ (X-ray 1.60A ) 3JD8 (EM 4.43A ) 5F18 (X-ray 2.00A ) 5F1B (X-ray 2.30A ) 5HNS (X-ray 2.45A ) 5JNX (EM 6.56A ) 5KWY (X-ray 2.40A ) 5U73 (X-ray 3.35A ) 5U74 (X-ray 3.33A ) 6UOX (EM 4.13A ) 6W5R (EM 3.60A ) 6W5S (EM 3.00A ) 6W5T (EM 3.70A ) 6W5U (EM 3.90A ) 6W5V (EM 4.00A ) |
| DBSNP | rs747049347 rs120074136 rs372947142 rs17855819 rs866966704 rs80358252 rs1805081 rs55680026 rs80358251 rs1230538609 rs1346436537 rs120074134 rs1435915496 rs1555637157 rs1053321823 rs766301620 rs139751448 rs1298238512 rs1064793791 rs774333145 rs61731962 rs781065429 rs372445155 rs1555636659 rs1190383931 rs13381670 rs1567963883 rs483352886 rs377515417 rs138184115 rs369368181 rs761660695 rs1555634739 rs745777805 rs773351341 rs2058768195 rs1788799 rs765652543 rs1555634490 rs376213990 rs750480579 rs1555634452 rs1057518942 rs1555634422 rs370323921 rs1393388896 rs757475924 rs1555634202 rs752386083 rs80358253 rs1555633697 rs550562774 rs1057519242 rs1805082 rs1160114136 rs372030650 rs1191346899 rs120074130 rs768999208 rs564631426 rs753768576 rs28940897 rs786204714 rs143124972 rs748837410 rs1428599096 rs1261939149 rs120074135 rs543206298 rs120074132 rs34084984 rs773767253 rs28942108 rs1364834942 rs757534240 rs80358254 rs80358254 rs1555632958 rs150334966 rs80358257 rs761773567 rs140211089 rs2058637844 rs28942107 rs28942104 rs80358258 rs771000314 rs80358259 rs772622214 rs746715353 rs28942106 rs374526072 rs1338658857 rs758829443 rs2058616184 rs778878523 rs34715591 rs28942105 rs28942105 rs748862167 rs1555631998 rs780175800 rs200444084 rs369098773 rs758902805 rs758902805 rs753419933 rs120074131 rs766178353 rs761653115 rs745892286 rs1415921261 rs1805084 |
| Subcellular location [CC] | Late endosome membrane {ECO:0000269|PubMed:12554680}; Multi-pass membrane protein {ECO:0000269|PubMed:10821832, ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760}. Lysosome membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:9927649}; Multi-pass membrane protein {ECO:0000269|PubMed:10821832, ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760}. |
| Mouse PG classification | NA |
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