Gene
abcb11a
- ID
- ZDB-GENE-050517-13
- Name
- ATP-binding cassette, sub-family B (MDR/TAP), member 11a
- Symbol
- abcb11a Nomenclature History
- Previous Names
-
- fc21d02
- wu:fc21d02
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have ATPase-coupled transmembrane transporter activity and canalicular bile acid transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in benign recurrent intrahepatic cholestasis 2; intrahepatic cholestasis; liver cirrhosis; and progressive familial intrahepatic cholestasis 2. Is expressed in intestine. Orthologous to human ABCB11 (ATP binding cassette subfamily B member 11).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Ellis et al., 2017
- 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 2 | Alliance | Cholestasis, benign recurrent intrahepatic, 2 | 605479 |
| progressive familial intrahepatic cholestasis 2 | Alliance | Cholestasis, progressive familial intrahepatic 2 | 601847 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017871 | ABC transporter-like, conserved site |
| Domain | IPR003439 | ABC transporter-like, ATP-binding domain |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR011527 | ABC transporter type 1, transmembrane domain |
| Family | IPR039421 | Type 1 protein exporter |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036640 | ABC transporter type 1, transmembrane domain superfamily |
Domain Details Per Protein
| Protein | Length | AAA+ ATPase domain | ABC transporter-like, ATP-binding domain | ABC transporter-like, conserved site | ABC transporter type 1, transmembrane domain | ABC transporter type 1, transmembrane domain superfamily | P-loop containing nucleoside triphosphate hydrolase | Type 1 protein exporter |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QSX6
|
1320 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
abcb11a-202
(1)
|
Havana | 4922 nt |
Interactions and Pathways
No data available
Plasmids
No data available