ABCB8 Gene Summary [Human]
This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Details
| Type | Protein Coding |
| Official Symbol | ABCB8 |
| Official Name | ATP binding cassette subfamily B member 8 [Source:HGNC Symbol;Acc:HGNC:49] |
| Ensembl ID | ENSG00000197150 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily B member 8, mitochondrial ABC protein |
| Synonyms | 4833412N02RIK, ATP binding cassette subfamily B member 8, ATP-binding cassette, sub-family B member 8, EST328128, M-ABC1, MITOSUR |
| 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 ABCB8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NHLM bacteriocin system ABC transporter, peptidase/ATP-binding protein
- lipid A export permease/ATP-binding protein MsbA
- ATP binding
- type I secretion system ABC transporter, PrtD family
- Conjugate Transporter-2 (CT2) Family protein
- protein binding
- nitrate transport ATP-binding subunits C and D
- heme ABC exporter, ATP-binding protein CcmA
- urea ABC transporter, ATP-binding protein UrtE
- ABC transporter transmembrane region
- AAA domain
- Six-transmembrane helical domain of the ATP-binding cassette transporters
- nucleotide-binding domain
- thiol reductant ABC exporter, CydD subunit
- thiol reductant ABC exporter, CydC subunit
- energy-coupling factor transporter ATPase
- NHLM bacteriocin system ABC transporter, ATP-binding protein
- nickel import ATP-binding protein NikE
- ABC transporter
- ABC transporter, permease/ATP-binding protein
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
- ATPases associated with a variety of cellular activities
Pathways
Biological processes and signaling networks where the ABCB8 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Mitochondria
- mitochondrial membrane
- mitochondrial inner membrane
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCB8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- potassium ion transmembrane transport
- peptide transport
- cell volume homeostasis
Cellular Component
Where in the cell the gene product is active
- mitochondrial membrane
- membrane
- mitochondrion
- nucleolus
- mitochondrial inner membrane
- ATP-binding cassette (ABC) transporter complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- peptide-transporting ATPase activity