ABCA8 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, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Details
| Type | Protein Coding |
| Official Symbol | ABCA8 |
| Official Name | ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38] |
| Ensembl ID | ENSG00000141338 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily A member 8 |
| Synonyms | Abca8b, ATP binding cassette subfamily A member 8 |
| 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 ABCA8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ABC-2 type transporter
- ATPase activity, coupled to transmembrane movement of substances
- ABC-2 family transporter protein
- AAA domain, putative AbiEii toxin, Type IV TA system
- P-loop containing region of AAA domain
- 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
- cobalt transport protein ATP-binding subunit
- gallidermin-class lantibiotic protection ABC transporter, ATP-binding subunit
- energy-coupling factor transporter ATPase
- xenobiotic-transporting ATPase
- nickel import ATP-binding protein NikE
- ABC transporter
- thiamine ABC transporter, ATP-binding protein
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
- ATPases associated with a variety of cellular activities
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- liver cancer
- colon cancer
- gastric cancer
- Alzheimer disease
- coronary artery disease
- epithelial cancer
- metabolic syndrome X
- uterine leiomyoma
- leiomyomatosis
regulated by
- topiramate
- mibolerone
- EAhy926 cells
regulates
- cholesterol
- sphingomyelin
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
- Endoplasmic Reticulum
- basolateral membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCA8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid transport
- drug transmembrane transport
- transmembrane transport
- positive regulation of cholesterol efflux
- regulation of cholesterol efflux
- xenobiotic transport
- cholesterol efflux
- cholesterol transport
- sphingomyelin biosynthetic process
Cellular Component
Where in the cell the gene product is active
- intracellular membrane-bounded organelle
- endoplasmic reticulum
- basolateral plasma membrane
- plasma membrane
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
- xenobiotic-transporting ATPase activity