Human Gene ABCB1 (ENST00000265724.8) from GENCODE V44
Description: Homo sapiens ATP binding cassette subfamily B member 1 (ABCB1), transcript variant 1, mRNA. (from RefSeq NM_001348945) RefSeq Summary (NM_000927): 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]. Gencode Transcript: ENST00000265724.8 Gencode Gene: ENSG00000085563.15 Transcript (Including UTRs) Position: hg38 chr7:87,503,859-87,713,323 Size: 209,465 Total Exon Count: 29 Strand: - Coding Region Position: hg38 chr7:87,504,243-87,600,184 Size: 95,942 Coding Exon Count: 27
ID:MDR1_HUMAN DESCRIPTION: RecName: Full=Multidrug resistance protein 1; EC=3.6.3.44; AltName: Full=ATP-binding cassette sub-family B member 1; AltName: Full=P-glycoprotein 1; AltName: CD_antigen=CD243; FUNCTION: Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells. CATALYTIC ACTIVITY: ATP + H(2)O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out). SUBUNIT: Interacts with PSMB5. INTERACTION: Q86VI4:LAPTM4B; NbExp=2; IntAct=EBI-1057359, EBI-3267258; Q99496:RNF2; NbExp=2; IntAct=EBI-1057359, EBI-722416; SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (By similarity). TISSUE SPECIFICITY: Expressed in liver, kidney, small intestine and brain. POLYMORPHISM: Genetic variation in ABCB1 may play a role in patients who do not respond to drug treatment. DISEASE: Genetic variations in ABCB1 are associated with susceptibility to inflammatory bowel disease type 13 (IBD13) [MIM:612244]. Inflammatory bowel disease is characterized by a chronic relapsing intestinal inflammation. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may involve any part of the gastrointestinal tract, but most frequently 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. Crohn disease and ulcerative colitis are commonly classified as autoimmune diseases. SIMILARITY: Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. SIMILARITY: Contains 2 ABC transmembrane type-1 domains. SIMILARITY: Contains 2 ABC transporter domains. SEQUENCE CAUTION: Sequence=AAM49149.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PGY1ID105.html"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/abcb1/"; WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCB1"; WEB RESOURCE: Name=Wikipedia; Note=P-glycoprotein entry; URL="http://en.wikipedia.org/wiki/P-glycoprotein"; WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P08183";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P08183
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000166 nucleotide binding GO:0005215 transporter activity GO:0005515 protein binding GO:0005524 ATP binding GO:0008559 xenobiotic-transporting ATPase activity GO:0016787 hydrolase activity GO:0016887 ATPase activity GO:0042626 ATPase activity, coupled to transmembrane movement of substances GO:0090554 phosphatidylcholine-translocating ATPase activity GO:0090555 phosphatidylethanolamine-translocating ATPase activity GO:0099038 ceramide-translocating ATPase activity
Biological Process: GO:0000086 G2/M transition of mitotic cell cycle GO:0006855 drug transmembrane transport GO:0042493 response to drug GO:0042908 xenobiotic transport GO:0045332 phospholipid translocation GO:0047484 regulation of response to osmotic stress GO:0055085 transmembrane transport GO:0072089 stem cell proliferation GO:0099040 ceramide translocation GO:1901529 positive regulation of anion channel activity GO:2001225 regulation of chloride transport
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa02010 - ABC transporters
BioCarta from NCI Cancer Genome Anatomy Project h_mrpPathway - Multi-Drug Resistance Factors h_nuclearRsPathway - Nuclear Receptors in Lipid Metabolism and Toxicity h_p53hypoxiaPathway - Hypoxia and p53 in the Cardiovascular system
Reactome (by CSHL, EBI, and GO)
Protein P08183 (Reactome details) participates in the following event(s):
R-HSA-2161538 abacavir [cytosol] + ATP + H2O => abacavir[extracellular] + ADP + phosphate R-HSA-1467457 ABCA8,B1,B5 transport xenobiotics from cytosol to extracellular region R-HSA-2161517 Abacavir transmembrane transport R-HSA-382556 ABC-family proteins mediated transport R-HSA-2161522 Abacavir transport and metabolism R-HSA-382551 Transport of small molecules R-HSA-1430728 Metabolism
US Server
