ATP8B1
Summary: This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ATPase phospholipid transporting 8B1 | MIM:602397 | Ensembl:ENSG00000081923 | HGNC:HGNC:3706 | PA265 | 18q21.31 |
GO terms in ATP8B1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0000287 | magnesium ion binding |
| MF | IBA | GO:0004012 | phospholipid-translocating ATPase activity |
| MF | TAS | GO:0004012 | phospholipid-translocating ATPase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IEA | GO:0015247 | aminophospholipid transmembrane transporter activity |
| MF | IEA | GO:1901612 | cardiolipin binding |
| BP | IDA | GO:0006855 | drug transmembrane transport |
| BP | IBA | GO:0007030 | Golgi organization |
| BP | IEA | GO:0007605 | sensory perception of sound |
| BP | IEA | GO:0008206 | bile acid metabolic process |
| BP | NAS | GO:0015721 | bile acid and bile salt transport |
| BP | IEA | GO:0015917 | aminophospholipid transport |
| BP | IEA | GO:0021650 | vestibulocochlear nerve formation |
| BP | IMP | GO:0032534 | regulation of microvillus assembly |
| BP | TAS | GO:0034220 | ion transmembrane transport |
| BP | IBA | GO:0045332 | phospholipid translocation |
| BP | IDA | GO:0045332 | phospholipid translocation |
| BP | NAS | GO:0045332 | phospholipid translocation |
| BP | IMP | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IEA | GO:0060119 | inner ear receptor cell development |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IBA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | NAS | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0016324 | apical plasma membrane |
| CC | IEA | GO:0031526 | brush border membrane |
| CC | IEA | GO:0032420 | stereocilium |
Gene expression in normal tissue: ATP8B1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ATP8B1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-936837 | Ion transport by P-type ATPases |
| reactome | R-HSA-983712 | Ion channel transport |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD546 | BMS-754807 | 1 |
| iGMDRD670 | ML 210 | 2 |
| iGMDRD781 | Sirolimus | 2 |
| iGMDRD494 | Neopeltolide | 3 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD599 | Salermide | 3 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
| iGMDRD107 | Valdecoxib | 2 |
| iGMDRD201 | SKI II | 2 |
| iGMDRD71 | Sparfosic acid | 3 |
| iGMDRD193 | Fqi1 | 2 |
| iGMDRD782 | DC-45-A2 | 2 |
| iGMDRD441 | TW 37 | 1 |
| iGMDRD318 | PAC-1 | 3 |
| iGMDRD226 | ML006 | 2 |
| iGMDRD260 | FQI-2 | 2 |
| iGMDRD131 | Erlotinib | 1 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD268 | Cerulenin | 1 |
| iGMDRD23 | Gossypol | 2 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD74 | Idarubicin | 2 |
| iGMDRD887 | Compound 23 citrate | 3 |
| iGMDRD577 | BIX01294 | 3 |
| iGMDRD116 | CD437 | 2 |
| iGMDRD652 | UNC0638 | 3 |
| iGMDRD405 | PIK-75 | 2 |
| iGMDRD84 | Lovastatin acid | 1 |
| iGMDRD248 | BRD4354 | 1 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD123 | Isoevodiamine | 4 |
| iGMDRD211 | (1S,3R)-RSL3 | 2 |
| iGMDRD351 | GW843682X | 2 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD481 | Dactolisib | 2 |
| iGMDRD158 | NSC141540 | 4 |
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD103 | SN-38 | 4 |
| iGMDRD5 | Tyrphostin AG 1478 | 3 |
| iGMDRD246 | NPC26 | 2 |
| iGMDRD300 | Tozasertib | 2 |
| iGMDRD366 | PI-103 | 2 |
| iGMDRD329 | Merck60 | 2 |
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in ATP8B1

