Aliases for ABCB1 Gene
External Ids for ABCB1 Gene
Previous HGNC Symbols for ABCB1 Gene
Previous GeneCards Identifiers for ABCB1 Gene
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. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]
GeneCards Summary for ABCB1 Gene
ABCB1 (ATP Binding Cassette Subfamily B Member 1) is a Protein Coding gene. Diseases associated with ABCB1 include Colchicine Resistance and Inflammatory Bowel Disease 13. Among its related pathways are Nuclear Receptors in Lipid Metabolism and Toxicity and Hepatic ABC Transporters. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB4.
UniProtKB/Swiss-Prot for ABCB1 Gene
Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells.
ATP-binding cassette (ABC) transporters form one of the largest groups of paralogous protein families that have a wide diversity of functions and substrates. Specificity has been shown for small and large molecules, highly charged molecules and highly hydrophobic systems.