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MGP002268

UniProt Annotations

Entry Information
Gene NameATP-binding cassette, sub-family B (MDR/TAP), member 1
Protein EntryMDR1_HUMAN
UniProt IDP08183
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P08183-1; Sequence=Displayed; Name=2; IsoId=P08183-2; Sequence=VSP_055769;
Catalytic ActivityATP + H(2)O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out).
DiseaseInflammatory bowel disease 13 (IBD13) [MIM:612244]: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
FunctionEnergy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells.
InteractionQ86VI4:LAPTM4B; NbExp=2; IntAct=EBI-1057359, EBI-3267258; Q99496:RNF2; NbExp=2; IntAct=EBI-1057359, EBI-722416;
PolymorphismGenetic variation in ABCB1 may play a role in patients who do not respond to drug treatment.
Sequence CautionSequence=AAM49149.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. {ECO:0000305}.
SimilarityContains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule:PRU00441}.
SimilarityContains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule:PRU00434}.
Subcellular LocationCell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441}.
SubunitInteracts with PSMB5. Finds in a complex with ABCB1, TFPI2 and PPP2R3C; leading to the dephosphorylation of ABCB1. {ECO:0000269|PubMed:15488952, ECO:0000269|PubMed:24333728}.
Tissue SpecificityExpressed in liver, kidney, small intestine and brain.
Web ResourceName=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P08183";
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PGY1ID105.html";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/abcb1/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCB1";
Web ResourceName=Wikipedia; Note=P-glycoprotein entry; URL="http://en.wikipedia.org/wiki/P-glycoprotein";
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