Gene
abcb6a
- ID
- ZDB-GENE-050517-9
- Name
- ATP binding cassette subfamily B member 6 (LAN blood group) a
- Symbol
- abcb6a Nomenclature History
- Previous Names
-
- abcb6
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have ATPase-coupled heme transmembrane transporter activity and heme binding activity. Involved in iris morphogenesis and melanocyte proliferation. Predicted to localize to integral component of membrane and vacuolar membrane. Human ortholog(s) of this gene implicated in dyschromatosis universalis hereditaria. Orthologous to human ABCB6 (ATP binding cassette subfamily B member 6 (Langereis blood group)).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Wang et al., 2012
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| dyschromatosis universalis hereditaria | Alliance | Dyschromatosis universalis hereditaria 3 | 615402 |
| Microphthalmia, isolated, with coloboma 7 | 614497 | ||
| Pseudohyperkalemia, familial, 2, due to red cell leak | 609153 | ||
| [Blood group, Langereis system] | 111600 |
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 |
| Domain | IPR032410 | Mitochondrial ABC-transporter, N-terminal five TM 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 | Mitochondrial ABC-transporter, N-terminal five TM domain | P-loop containing nucleoside triphosphate hydrolase | Type 1 protein exporter |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QCK2
|
851 | ||||||||
|
UniProtKB:A0A2R8RXI2
|
800 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
abcb6a-201
(1)
|
Havana | 2950 nt |
Interactions and Pathways
No data available
Plasmids
No data available