Gene
atp8b1
- ID
- ZDB-GENE-091116-14
- Name
- ATPase phospholipid transporting 8B1
- Symbol
- atp8b1 Nomenclature History
- Previous Names
-
- si:ch211-180b7.2
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have ATPase-coupled intramembrane lipid transporter activity. Predicted to be involved in Golgi organization and phospholipid translocation. Predicted to localize to Golgi apparatus and plasma membrane. Human ortholog(s) of this gene implicated in benign recurrent intrahepatic cholestasis 1; intrahepatic cholestasis; intrahepatic cholestasis of pregnancy 1; and progressive familial intrahepatic cholestasis 1. Orthologous to human ATP8B1 (ATPase phospholipid transporting 8B1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| benign recurrent intrahepatic cholestasis 1 | Alliance | Cholestasis, benign recurrent intrahepatic | 243300 |
| intrahepatic cholestasis of pregnancy 1 | Alliance | Cholestasis, intrahepatic, of pregnancy, 1 | 147480 |
| progressive familial intrahepatic cholestasis 1 | Alliance | Cholestasis, progressive familial intrahepatic 1 | 211600 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR032630 | P-type ATPase, C-terminal |
| Domain | IPR032631 | P-type ATPase, N-terminal |
| Domain | IPR044492 | P-type ATPase, haloacid dehalogenase domain |
| Family | IPR001757 | P-type ATPase |
| Family | IPR006539 | P-type ATPase, subfamily IV |
| Homologous_superfamily | IPR008250 | P-type ATPase, A domain superfamily |
| Homologous_superfamily | IPR023214 | HAD superfamily |
| Homologous_superfamily | IPR023298 | P-type ATPase, transmembrane domain superfamily |
| Homologous_superfamily | IPR023299 | P-type ATPase, cytoplasmic domain N |
| Homologous_superfamily | IPR036412 | HAD-like superfamily |
| PTM | IPR018303 | P-type ATPase, phosphorylation site |
Domain Details Per Protein
| Protein | Length | HAD-like superfamily | HAD superfamily | P-type ATPase | P-type ATPase, A domain superfamily | P-type ATPase, C-terminal | P-type ATPase, cytoplasmic domain N | P-type ATPase, haloacid dehalogenase domain | P-type ATPase, N-terminal | P-type ATPase, phosphorylation site | P-type ATPase, subfamily IV | P-type ATPase, transmembrane domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7FFK0
|
1249 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp8b1-201
(1)
|
Ensembl | 3,750 nt | ||
| mRNA |
atp8b1-202
(1)
|
Ensembl | 4,543 nt |
Interactions and Pathways
No data available
Plasmids
No data available