| Gene Information | |
|---|---|
| Gene Name | ATP8B1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1251 |
| Protein Names | Phospholipid-transporting ATPase IC (EC 7.6.2.1) (ATPase class I type 8B member 1) (Familial intrahepatic cholestasis type 1) (P4-ATPase flippase complex alpha subunit ATP8B1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | >4290 ( ENSG00000081923 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | O43520 |
| Gene Card | ATP8B1 |
| Uniprot ID | O43520 |
| Pfam | PF16212; PF16209 |
| In ASD | no |
| Allosteric Prediction | no (-0.564204524) |
| Ortholog in Animals | Alpaca_ ATP8B1 ( ortholog_one2one ) Dog_ ATP8B1 ( ortholog_one2one ) GuineaPig_ ATP8B1 ( ortholog_one2one ) Macaque_ ATP8B1 ( ortholog_one2one ) Mouse_ Atp8b1 ( ortholog_one2one ) Pig_ ATP8B1 ( ortholog_one2one ) Rat_ Atp8b1 ( ortholog_one2one ) Rabbit_ ATP8B1 ( ortholog_one2one ) |
| Ohnologs | ATP8B3, ATP8B4, ATP8B2 |
| Paralogs | ATP8B4, ATP10D, ATP11A, ATP8A2, ATP11C, ATP10A, ATP11B, ATP9A, ATP10B, ATP8B2, ATP8A1, ATP9B, ATP8B3 |
| Tissue | colon |
| Tissue Specificity | Found in most tissues except brain and skeletal muscle. Most abundant in pancreas and small intestine. |
| 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 | 7PY4 (EM 3.10A ) 7VGH (EM 3.39A ) 7VGI (EM 3.36A ) 7VGJ (EM 3.98A ) |
| DBSNP | rs146599962 rs34719006 rs3745079 rs56355310 rs515726138 rs121909099 rs150860808 rs111033609 rs111033609 rs140665115 rs2271260 rs34315917 rs34018205 rs121909104 rs147642236 rs121909101 rs3745078 rs33963153 rs1202682161 rs780186596 rs752045131 rs121909100 rs35470719 rs1337978497 rs541474497 rs1350369369 rs34018300 rs773092889 rs121909103 rs767398921 rs121909098 rs12968116 rs1438249656 rs222581 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:20961850, ECO:0000269|PubMed:21914794, ECO:0000269|PubMed:25315773}; Multi-pass membrane protein. Apical cell membrane {ECO:0000269|PubMed:20512993}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q148W0}. Endoplasmic reticulum {ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:20961850, ECO:0000269|PubMed:21914794}. Golgi apparatus {ECO:0000269|PubMed:20961850}. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A or TMEM30B (PubMed:20947505). Localizes to apical membranes in epithelial cells (PubMed:20512993). {ECO:0000269|PubMed:20512993, ECO:0000269|PubMed:20947505}. |
| Mouse PG classification | HPG |
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