Gene
abcd3b
- ID
- ZDB-GENE-050517-29
- Name
- ATP-binding cassette, sub-family D (ALD), member 3b
- Symbol
- abcd3b Nomenclature History
- Previous Names
-
- si:dkey-61d19.3
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have several functions, including ATP binding activity; ATPase activity; and long-chain fatty acid transporter activity. Predicted to be involved in fatty acid catabolic process; long-chain fatty acid import into peroxisome; and peroxisome organization. Predicted to localize to peroxisomal membrane. 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
- No data available
- 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 |
---|---|---|---|
?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 |
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 | Peroxysomal long chain fatty acyl transporter | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|---|---|---|
UniProtKB:B0UY91
|
659 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
abcd3b-201
(1)
|
Havana | 2389 nt |
Interactions and Pathways
No data available
Plasmids
No data available