Gene
abca1a
- ID
- ZDB-GENE-031006-12
- Name
- ATP-binding cassette, sub-family A (ABC1), member 1A
- Symbol
- abca1a Nomenclature History
- Previous Names
-
- abca1
- cb939 (1)
- fa03d03
- im:6795541
- wu:fa03d03
- wu:fj13h01
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have ATPase-coupled transmembrane transporter activity; phosphatidylcholine floppase activity; and phosphatidylserine floppase activity. Involved in regulation of cholesterol efflux and sprouting angiogenesis. Predicted to localize to intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in Alzheimer's disease; coronary artery disease; hypolipoproteinemia (multiple); obesity; and type 2 diabetes mellitus. Is expressed in several structures, including blood vessel; central nervous system; neural tube; pleuroperitoneal region; and segmental plate. Orthologous to human ABCA1 (ATP binding cassette subfamily A member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb939 (15 images)
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 |
|---|---|---|---|
| primary hypoalphalipoproteinemia 1 | Alliance | HDL deficiency, familial, 1 | 604091 |
| Tangier disease | Alliance | Tangier disease | 205400 |
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 | IPR013525 | ABC-2 type transporter, transmembrane domain |
| Family | IPR026082 | ABC transporter A |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Length | AAA+ ATPase domain | ABC-2 type transporter, transmembrane domain | ABC transporter A | ABC transporter-like, ATP-binding domain | ABC transporter-like, conserved site | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|
|
UniProtKB:B8A446
|
2268 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
abca1a-202
(1)
|
Ensembl | 9,428 nt | ||
| mRNA |
abca1a-203
(1)
|
Ensembl | 9,626 nt | ||
| ncRNA |
abca1a-002
(1)
|
Ensembl | 697 nt |
Interactions and Pathways
No data available
Plasmids
No data available