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    ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 [ Homo sapiens ]

    Gene ID: 5243, updated on 5-Feb-2012
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    Summary

    Official Symbol
    ABCB1provided by HGNC
    Official Full Name
    ATP-binding cassette, sub-family B (MDR/TAP), member 1provided by HGNC
    Primary source
    HGNC:40
    See related
    Ensembl:ENSG00000085563; HPRD:01370; MIM:171050; Vega:OTTHUMG00000023393
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLCS; MDR1; P-GP; PGY1; ABC20; CD243; GP170
    Summary
    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. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    7q21.12
    Sequence :
    Chromosome: 7; NC_000007.13 (87133179..87342639, complement)
    See ABCB1 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene carnitine O-octanoyltransferase Neighboring gene ATP-binding cassette, sub-family B (MDR/TAP), member 4 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 Neighboring gene RUN domain containing 3B Neighboring gene solute carrier family 25, member 40 Neighboring gene DBF4 homolog (S. cerevisiae) Neighboring gene ADAM metallopeptidase domain 22

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population. Dong L, et al. Genet Mol Res, 2011 Oct 19. PMID 22033938.
    2. Clinical, angiographic, and genetic factors associated with early coronary stent thrombosis. Cayla G, et al. JAMA, 2011 Oct 26. PMID 22028352.
    3. Associations between variants in the ABCB1 (MDR1) gene and corticosteroid dependence in children with Crohn's disease. Krupoves A, et al. Inflamm Bowel Dis, 2011 Nov. PMID 21987299.
    4. Conformational analysis of human ATP-binding cassette transporter ABCB1 in lipid nanodiscs and inhibition by the antibodies MRK16 and UIC2. Ritchie TK, et al. J Biol Chem, 2011 Nov 11. PMID 21937435.
    5. Long-chain polyunsaturated fatty acids promote paclitaxel cytotoxicity via inhibition of the MDR1 gene in the human colon cancer Caco-2 cell line. Kuan CY, et al. J Am Coll Nutr, 2011 Aug. PMID 21917707.

    See all (1220) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. SLC2A1/GLUT1, SLC1A3/EAAT1, and SLC1A2/EAAT2 were the main SLC proteins whereas ABCG2/BCRP, ABCB1/MDR1, ABCA2 and ABCA8 were the main ABC quantified in isolated brain microvessels
      Title: Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain microvessels.
    2. For the MDR1 C3435T SNP, a significant association with objective response was detected for CC genotype in overall and Asian populations stratified
      Title: Polymorphisms of ERCC1 C118T/C8092A and MDR1 C3435T predict outcome of platinum-based chemotherapies in advanced non-small cell lung cancer: a meta-analysis.
    3. We have investigated single nucleotide polymorphisms of the MDR1 and MIF (G-173C, rs755622) genes in 170 children with nephrotic syndrome
      Title: Polymorphisms of the MDR1 and MIF genes in children with nephrotic syndrome.
    4. Both omega-3 and omega-6 PUFAs modulate expression of MDR1 and increase apoptosis in Caco2 cells.
      Title: Long-chain polyunsaturated fatty acids promote paclitaxel cytotoxicity via inhibition of the MDR1 gene in the human colon cancer Caco-2 cell line.
    5. Pgp expression was more frequently observed in early chronic (P = 0.00) and in advanced (P = 0.02) chronic myeloid leukemia phases when it was compared to MRP1 expression
      Title: Variation of MDR proteins expression and activity levels according to clinical status and evolution of CML patients.
    6. Tetrandrine can inhibit the expression of YB-1 and up-regulate the expression of c-Jun, which inhibits the expression of MDR1 gene in K562 cells.
      Title: [Mechanisms of preventive effect of tetrandrine on acquired multidrug resistance in K562 cells].
    7. Neither ABCB1 nor PON-1 genotypes significantly influenced platelet reactivity or outcome.
      Title: Impact of genetic variants on post-clopidogrel platelet reactivity in patients after elective percutaneous coronary intervention.
    8. Our analyses revealed no significant association of ABCB1 genotypes or haplotypes with interpatient variability of TAC or CSA C0/dose in
      Title: Pharmacogenetics of calcineurin inhibitors in Brazilian renal transplant patients.
    9. There was no statistically significant association between LPV or RTV AUC or CL, and CYP3A5, ABCB1, or SLCO1B1 A388G polymorphisms.
      Title: CYP3A5, ABCB1, and SLCO1B1 polymorphisms and pharmacokinetics and virologic outcome of lopinavir/ritonavir in HIV-infected children.
    10. In heart transplantation, patients treated with cyclosporine showed a clear effect of the ABCB1 SNPs rs1045652, 1128503, and 2032582 on corrected trough drug concentrations in the first 4 months.
      Title: Pharmacogenetic study of ABCB1 and CYP3A5 genes during the first year following heart transplantation regarding tacrolimus or cyclosporine levels.
    Submit: New GeneRIF Correction See all (777)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Colchicine resistance

    Inflammatory bowel disease 13

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Treatment of CD4+ and CD8+ T cells with HIV-1 gp120 increases the intracellular expression of P-glycoprotein (P-gp) PubMed
    Tat tat HIV-1 Tat upregulates expression of P-glycoprotein (P-gp) in brain microvascular endothelial cells (BMEC) PubMed
    tat HIV-1 Tat represses transcription of the Sp1-dependent MDR1 promoter, suggesting Tat downregulates MDR1 expression PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NC_000007.11     BIND  PubMed The MeCP2 corepressor complex interacts with the hypermethylated ABCB1 promoter. 
    P08183 Q03135 CAV1    HPRD  PubMed  
    P08183 O00165 HAX1    HPRD  PubMed  
    P08183 Q99496 RNF2    HPRD  PubMed  
    BioGRID:111262 BioGRID:108025 DHX9    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111262 BioGRID:111310 PIM1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:111262 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Codeine and morphine metabolism, organism-specific biosystem (from WikiPathways)
      Codeine and morphine metabolism, organism-specific biosystemThe principal pathways for metabolism of codeine occur in the liver, although some metabolism occurs in the intestine and brain. Approximately 50-70% of codeine is converted to codeine-6-glucuronide ...
    • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-1-alpha transcription factor network, organism-specific biosystem
      HIF-1-alpha transcription factor network
    • Nuclear receptors in lipid metabolism and toxicity, organism-specific biosystem (from WikiPathways)
      Nuclear receptors in lipid metabolism and toxicity, organism-specific biosystemNuclear receptors are transcription factors that are activated upon binding to its ligands. Initially, they had been classified as classic endocrine nuclear hormone receptors and orphan receptors. Ho...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Clone Names

    • MGC163296

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    ATPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    ATPase activity, coupled to transmembrane movement of substances IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    xenobiotic-transporting ATPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    G2/M transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    response to drug TAS
    Traceable Author Statement
    more info
    		 PubMed 
    stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    integral to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    intercellular canaliculus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    membrane fraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    multidrug resistance protein 1
    Names
    multidrug resistance protein 1
    P-glycoprotein 1
    colchicin sensitivity
    doxorubicin resistance
    NP_000918.2
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011513.1 RefSeqGene

      Range
      4926..214386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000927.4 → NP_000918.2  multidrug resistance protein 1

      Status: REVIEWED

      Source sequence(s)
      AA776371, AC002457, AK290159
      Consensus CDS
      CCDS5608.1
      UniProtKB/TrEMBL
      A4D1D2
      UniProtKB/Swiss-Prot
      P08183
      Related
      ENSP00000265724, OTTHUMP00000205790, ENST00000265724, OTTHUMT00000335444
      Conserved Domains (3) summary
      cd03249
      Location:392 – 629
      Blast Score: 1073
      ABC_MTABC3_MDL1_MDL2; MTABC3 (also known as ABCB6) is a mitochondrial ATP-binding cassette protein involved in iron homeostasis and one of four ABC transporters expressed in the mitochondrial inner membrane, the other three being MDL1(ABC7), MDL2, and ATM1. In fact, the ...
      PTZ00265
      Location:53 – 1267
      Blast Score: 1288
      PTZ00265; multidrug resistance protein (mdr1); Provisional
      cl00549
      Location:70 – 345
      Blast Score: 613
      ABC_membrane; ABC transporter transmembrane region

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      87133179..87342639, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      81744182..81952578, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      86464691..86673953, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC002457.2 AAM49149.1
    genomic AC005068.2 (37569..98271) None
    genomic AF016534.1 AAB70218.1
    genomic AY910577.1 AAW82430.1
    genomic CH236949.1 EAL24173.1
    genomic CH471091.2 EAW76940.1
      EAW76941.1
      EAW76942.1
      EAW76943.1
    genomic HQ291612.1 AEC13147.1
    genomic M29422.1 None
    genomic M29423.1 None
    genomic M29424.1 AAA59576.1
    genomic M29425.1 AAA59576.1
    genomic M29426.1 AAA59576.1
    genomic M29427.1 AAA59576.1
    genomic M29428.1 AAA59576.1
    genomic M29429.1 AAA59576.1
    genomic M29430.1 AAA59576.1
    genomic M29431.1 AAA59576.1
    genomic M29432.1 AAA59576.1
    genomic M29433.1 AAA59576.1
    genomic M29434.1 AAA59576.1
    genomic M29435.1 AAA59576.1
    genomic M29436.1 AAA59576.1
    genomic M29437.1 AAA59576.1
    genomic M29438.1 AAA59576.1
    genomic M29439.1 AAA59576.1
    genomic M29440.1 AAA59576.1
    genomic M29441.1 AAA59576.1
    genomic M29442.1 AAA59576.1
    genomic M29443.1 AAA59576.1
    genomic M29444.1 AAA59576.1
    genomic M29445.1 AAA59576.1
    genomic M29446.1 AAA59576.1
    genomic M29447.1 AAA59576.1
    genomic M37724.1 AAA88047.1
    genomic M37725.1 AAA88048.1
    genomic X58723.1 CAA41558.1
    mRNA AA776371.1 None
    mRNA AB208970.1 BAD92207.1
    mRNA AF016535.1 AAB69423.1
    mRNA AF345625.1 None
    mRNA AK290159.1 BAF82848.1
    mRNA AK308467.1 None
    mRNA AY425005.1 AAR91621.1
    mRNA AY425006.1 AAR91622.1
    mRNA AY425007.1 AAR83914.1
    mRNA BC130424.1 AAI30425.1
    mRNA BQ720763.1 None
    mRNA BQ882401.1 None
    mRNA BX509020.1 None
    mRNA CB164676.1 None
    mRNA EU852583.1 ACF94687.1
    mRNA EU854148.1 ACF94688.1
    mRNA M14758.1 AAA59575.1
    other-genetic AM393352.1 CAL38230.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    O60213 GenPept UniProtKB/TrEMBL:O60213
    P08183.3 GenPept UniProtKB/Swiss-Prot:P08183
    Q59GY9 GenPept UniProtKB/TrEMBL:Q59GY9
    Q6TBL4 GenPept UniProtKB/TrEMBL:Q6TBL4
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

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