Gene
abcc6a
- ID
- ZDB-GENE-050517-18
- Name
- ATP-binding cassette, sub-family C (CFTR/MRP), member 6a
- Symbol
- abcc6a Nomenclature History
- Previous Names
-
- grate (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have ATPase-coupled transmembrane transporter activity. Involved in chordate embryonic development and regulation of bone mineralization. Predicted to localize to membrane. Human ortholog(s) of this gene implicated in arterial calcification of infancy; coronary artery disease; and pseudoxanthoma elasticum. Is expressed in Kupffer's vesicle; forerunner cell group; opercular flap; and tail bud. Orthologous to human ABCC6 (ATP binding cassette subfamily C member 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 19 figures from 9 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
arterial calcification of infancy | Alliance | Arterial calcification, generalized, of infancy, 2 | 614473 |
pseudoxanthoma elasticum | Alliance | Pseudoxanthoma elasticum | 264800 |
pseudoxanthoma elasticum | Alliance | Pseudoxanthoma elasticum, forme fruste | 177850 |
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 | IPR005292 | Multi drug resistance-associated protein |
Family | IPR050173 | ATP-binding cassette transporter C |
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 | ATP-binding cassette transporter C | Multi drug resistance-associated protein | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:E7F118
|
1507 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
abcc6a-201
(1)
|
Havana | 6409 nt | |
mRNA |
abcc6a-202
(1)
|
Ensembl | 4422 nt |
Interactions and Pathways
No data available
Plasmids
No data available