ACBD5 Gene Summary [Human]
This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | ACBD5 |
| Official Name | acyl-CoA binding domain containing 5 [Source:HGNC Symbol;Acc:HGNC:23338] |
| Ensembl ID | ENSG00000107897 |
| Bio databases IDs | |
| Aliases | acyl-CoA binding domain containing 5 |
| Synonyms | 1300014E15RIK, acyl-CoA binding domain containing 5, acyl-Coenzyme A binding domain containing 5, RDLKD |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ACBD5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cytoplasmic domain
- acyl-CoA binding
- protein binding
- ACBP
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy with leukodystrophy
- breast carcinoma
- acyl-CoA binding domain containing protein 5 deficiency
- nonalcoholic fatty liver disease
role in cell
- autophagy in
- quantity
- accumulation
- accumulation in
- binding in
- autophagy
- beta-oxidation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
- peroxisome membrane
- nucleoplasm
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACBD5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- macropexophagy
- fatty acid metabolic process
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- peroxisome
- cytoplasm
- membrane
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- fatty-acyl-CoA binding