ABCB5 Gene Summary [Human]
ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | ABCB5 |
| Official Name | ATP binding cassette subfamily B member 5 [Source:HGNC Symbol;Acc:HGNC:46] |
| Ensembl ID | ENSG00000004846 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily B member 5, P-glycoprotein ABCB5, ATP-binding cassette protein |
| Synonyms | 9230106F14RIK, ABCB5alpha, ABCB5beta, ATP binding cassette subfamily B member 5, ATP-binding cassette, sub-family B member 5, EST422562, RGD1566342 |
| 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 ABCB5 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
- efflux permease
- type I secretion system ABC transporter, PrtD family
- Conjugate Transporter-2 (CT2) Family protein
- 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
- Six-transmembrane helical domain of the ATP-binding cassette transporters
- thiol reductant ABC exporter, CydD subunit
- cystic fibrosis transmembrane conductor regulator (CFTR)
- 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
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- melanoma
- melanoma cancer
- metabolic syndrome X
- dental caries
- cough
- alveolar soft part sarcoma
- soft tissue sarcoma cancer
regulates
role in cell
- proliferation
- survival
- growth
- transmembrane potential
- differentiation
- abnormal morphology
- fusion
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCB5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- eye development
- transmembrane transport
- regulation of membrane potential
- cell differentiation
- xenobiotic transport
Cellular Component
Where in the cell the gene product is active
- 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
- efflux transmembrane transporter activity
- xenobiotic-transporting ATPase activity