ABCB7 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
Details
| Type | Protein Coding |
| Official Symbol | ABCB7 |
| Official Name | ATP binding cassette subfamily B member 7 [Source:HGNC Symbol;Acc:HGNC:48] |
| Ensembl ID | ENSG00000131269 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily B member 7 |
| Synonyms | ABC7, ASAT, Atm1p, ATP binding cassette subfamily B member 7, ATP-binding cassette, sub-family B member 7, EST140535 |
| 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 ABCB7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase activity, coupled to transmembrane movement of substances
- lipid A export permease/ATP-binding protein MsbA
- ATP-binding domain
- ATP binding
- glucan exporter ATP-binding protein
- protein binding
- nitrate transport ATP-binding subunits C and D
- identical protein binding
- ABC transporter transmembrane region
- Six-transmembrane helical domain of the ATP-binding cassette transporters
- nucleotide-binding domain
- thiol reductant ABC exporter, CydD subunit
- energy-coupling factor transporter ATPase
- protein homodimerization
- ABC transporter
- heme transporter
- ABC transporter, permease/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
- X-linked sideroblastic anemia with cerebellar ataxia
- mitochondrial disorder
- X-linked spinocerebellar ataxia
- progressive familial intrahepatic cholestasis type 1
- hereditary disorder
role in cell
- apoptosis
- cell death
- expression in
- proliferation
- homeostasis 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
- pH resistant lipid raft fraction
- Mitochondria
- mitochondrial inner membrane
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCB7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular iron ion homeostasis
- transmembrane transport
- positive regulation of heme biosynthetic process
- iron-sulfur cluster assembly
- iron ion transmembrane transport
- heme transport
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- ATPase activity, coupled to transmembrane movement of substances
- identical protein binding
- protein homodimerization activity
- protein binding
- heme transporter activity