Gene
abcd3a
- ID
- ZDB-GENE-040426-2868
- Name
- ATP-binding cassette, sub-family D (ALD), member 3a
- Symbol
- abcd3a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to have several functions, including ATP binding activity; long-chain fatty acid transporter activity; and protein homodimerization activity. Predicted to be involved in long-chain fatty acid import into peroxisome. Predicted to localize to integral component of membrane and peroxisome. Human ortholog(s) of this gene implicated in Zellweger syndrome and congenital bile acid synthesis defect 5. Orthologous to human ABCD3 (ATP binding cassette subfamily D member 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55740 (1 image)
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 |
|---|---|---|---|
| congenital bile acid synthesis defect 5 | Alliance | ?Bile acid synthesis defect, congenital, 5 | 616278 |
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 | IPR005283 | Peroxysomal long chain fatty acyl transporter |
| Family | IPR050835 | ATP-binding cassette sub-family D |
| 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 sub-family D | Peroxysomal long chain fatty acyl transporter | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q803I6
|
656 | ||||||||
|
UniProtKB:A0A8M9PXC6
|
656 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
abcd3a-201
(1)
|
Ensembl | 2,802 nt | ||
| ncRNA |
abcd3a-002
(1)
|
Ensembl | 460 nt |
Interactions and Pathways
No data available
Plasmids
No data available