ABCA5 Gene Summary [Human]
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ABCA5 |
| Official Name | ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35] |
| Ensembl ID | ENSG00000154265 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily A member 5 |
| Synonyms | ABC13, ATP binding cassette subfamily A member 5, ATP-binding cassette, sub-family A member 5, B930033A02Rik, DEL17q24, EST90625, HTC3, HTGH, mKIAA1888 |
| 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 ABCA5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FeS assembly ATPase SufC
- ABC-2 family transporter protein
- phosphonate ABC transporter, ATP-binding protein
- daunorubicin resistance ABC transporter ATP-binding subunit
- nitrate transport ATP-binding subunits C and D
- heme ABC exporter, ATP-binding protein CcmA
- urea ABC transporter, ATP-binding protein UrtE
- lipid transporter
- LPS export ABC transporter ATP-binding protein
- cobalt transport protein ATP-binding subunit
- energy-coupling factor transporter ATPase
- nickel import ATP-binding protein NikE
- ABC transporter
- thiamine ABC transporter, ATP-binding protein
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- edema
- tremor
- hypercholesterolemia
- osteoporosis
- colon cancer
- generalized hypertrichosis terminalis
- dilated cardiomyopathy
- visceral vascular congestion
- aldosterone producing adrenocortical adenoma
- adenoma formation
regulates
- lipid
- cholesterol
role in cell
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- lysosome
- lysosome membrane
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCA5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid transport
- transmembrane transport
- reverse cholesterol transport
- high-density lipoprotein particle remodeling
- cholesterol metabolic process
- regulation of cholesterol efflux
- negative regulation of macrophage derived foam cell differentiation
- cholesterol efflux
- cholesterol homeostasis
Cellular Component
Where in the cell the gene product is active
- late endosome membrane
- late endosome
- Golgi membrane
- plasma membrane
- lysosomal membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- ATPase activity, coupled to transmembrane movement of substances
- lipid transporter activity