ABCA6 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 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ABCA6 |
| Official Name | ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36] |
| Ensembl ID | ENSG00000154262 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily A member 6 |
| Synonyms | ATP binding cassette subfamily A member 6, EST155051 |
| 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 ABCA6 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
- lipoprotein releasing system, ATP-binding protein
- ABC-2 family transporter protein
- AAA domain, putative AbiEii toxin, Type IV TA system
- nickel import ATP-binding protein NikD
- anchored repeat-type ABC transporter, ATP-binding subunit
- 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
- ABC exporter ATP-binding subunit, DevA family
- phosphonate C-P lyase system protein PhnK
- LPS export ABC transporter ATP-binding protein
- cobalt transport protein ATP-binding subunit
- gallidermin-class lantibiotic protection ABC transporter, ATP-binding subunit
- energy-coupling factor transporter ATPase
- ABC transporter
- 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
- epithelial cancer
- liver cancer
- hyperlipidemia
- gout
- hepatitis B virus-related hepatocellular carcinoma
- abdominal aortic aneurysm
- metabolic disorder
- HER2 negative hormone receptor negative breast cancer
regulates
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
- Golgi membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCA6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid transport
- transmembrane transport
Cellular Component
Where in the cell the gene product is active
- intracellular membrane-bounded organelle
- Golgi membrane
- plasma membrane
- nucleoplasm
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