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 enable ATPase-coupled intramembrane lipid transporter activity. Predicted to be involved in Golgi organization and phospholipid translocation. Predicted to be located in membrane. Predicted to be active in plasma membrane and trans-Golgi network. 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 | Additional Resources | 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 | InterPro | 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