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    ABCB1 ATP binding cassette subfamily B member 1 [ Homo sapiens (human) ]

    Gene ID: 5243, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ABCB1provided by HGNC
    Official Full Name
    ATP binding cassette subfamily B member 1provided by HGNC
    Primary source
    HGNC:HGNC:40
    See related
    Ensembl:ENSG00000085563 MIM:171050; AllianceGenome:HGNC:40
    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; ENPAT; GP170; p-170
    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. 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]
    Expression
    Biased expression in adrenal (RPKM 76.0), small intestine (RPKM 43.0) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABCB1 in Genome Data Viewer
    Location:
    7q21.12
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (87503017..87713295, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (88752787..88963178, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (87132333..87342611, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:86959096-86960295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18346 Neighboring gene TP53 target 1 Neighboring gene carnitine O-octanoyltransferase Neighboring gene ATP binding cassette subfamily B member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18349 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:87218704-87219204 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:87228303-87229502 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 13989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18351 Neighboring gene RUN domain containing 3B Neighboring gene ReSE screen-validated silencer GRCh37_chr7:87363145-87363320 Neighboring gene NANOG hESC enhancer GRCh37_chr7:87368534-87369080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:87376668-87377257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:87377258-87377846 Neighboring gene NANOG hESC enhancer GRCh37_chr7:87448246-87448747 Neighboring gene solute carrier family 25 member 40 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:87505271-87505780 Neighboring gene origin of replication in promoter of DBF4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26234 Neighboring gene DBF4-CDC7 kinase regulatory subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Promoter polymorphisms and allelic imbalance in ABCB1 expression. Loeuillet C, et al. Pharmacogenet Genomics, 2007 Nov. PMID 18075465
    2. MDR1 gene polymorphisms are associated with glucocorticoid-induced avascular necrosis of the femoral head in a Chinese population. Xue Y, et al. Genet Test Mol Biomarkers, 2014 Mar. PMID 24387690, Free PMC Article
    3. Pro-inflammatory human Th17 cells selectively express P-glycoprotein and are refractory to glucocorticoids. Ramesh R, et al. J Exp Med, 2014 Jan 13. PMID 24395888, Free PMC Article
    4. P-glycoprotein regulates trafficking of CD8(+) T cells to the brain parenchyma. Kooij G, et al. Acta Neuropathol, 2014 May. PMID 24429546
    5. Nickel-induced cell death and survival pathways in cultured renal proximal tubule cells: roles of reactive oxygen species, ceramide and ABCB1. Dahdouh F, et al. Arch Toxicol, 2014 Apr. PMID 24448832

    See all (2564) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Frequencies distribution of CYP3A5 rs776746 and ABCB1 rs1045642 polymorphisms in the west Algerian population and relationships with pharmacogenetics.
      Title: The Frequencies distribution of CYP3A5 rs776746 and ABCB1 rs1045642 polymorphisms in the west Algerian population and relationships with pharmacogenetics.
    2. Characterization of Chemoresistance in Pancreatic Cancer: A Look at MDR-1 Polymorphisms and Expression in Cancer Cells and Patients.
      Title: Characterization of Chemoresistance in Pancreatic Cancer: A Look at MDR-1 Polymorphisms and Expression in Cancer Cells and Patients.
    3. Influence of (C1236T and C3435T) Polymorphisms of ABCB1 Gene on Chemotherapy Treatment Outcome and Toxicity in Breast Cancer Patients.
      Title: Influence of (C1236T and C3435T) Polymorphisms of ABCB1 Gene on Chemotherapy Treatment Outcome and Toxicity in Breast Cancer Patients.
    4. Membrane P-glycoprotein expression in lymphocytes from adult patients with refractory glomerulonephritis.
      Title: Membrane P-glycoprotein expression in lymphocytes from adult patients with refractory glomerulonephritis.
    5. Relation between ABCB1 overexpression and COX2 and ALOX5 genes in human erythroleukemia cell lines.
      Title: Relation between ABCB1 overexpression and COX2 and ALOX5 genes in human erythroleukemia cell lines.
    6. Influence of GPRC5A-Regulated ABCB1 Expression on Lung Adenocarcinoma Proliferation.
      Title: Influence of GPRC5A-Regulated ABCB1 Expression on Lung Adenocarcinoma Proliferation.
    7. Common P-glycoprotein (ABCB1) polymorphisms do not seem to be associated with the risk of rivaroxaban-related bleeding events: Preliminary data.
      Title: Common P-glycoprotein (ABCB1) polymorphisms do not seem to be associated with the risk of rivaroxaban-related bleeding events: Preliminary data.
    8. NAT10-mediated mRNA N4-acetylcytidine modification of MDR1 and BCRP promotes breast cancer progression.
      Title: NAT10-mediated mRNA N4-acetylcytidine modification of MDR1 and BCRP promotes breast cancer progression.
    9. Association of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy.
      Title: Association of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy.
    10. The Effect of Platelet Activity, ABCB1 Genetic Polymorphism, and Renal Function on the Development of Ticagrelor-Related Dyspnea in Patients with Acute Coronary Syndrome.
      Title: The Effect of Platelet Activity, ABCB1 Genetic Polymorphism, and Renal Function on the Development of Ticagrelor-Related Dyspnea in Patients with Acute Coronary Syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (2080)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Colchicine resistance
    MedGen: C1861502 OMIM: 120080 GeneReviews: Not available
    		Compare labs
    Inflammatory bowel disease 13
    MedGen: C2677101 OMIM: 612244 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-mediated downregulation of P-gp is attenuated by SN50 (a nuclear factor-KappaB [NF-KappaB] inhibitor), suggesting involvement of NF-KappaB signaling in P-gp regulation in primary cultures of human fetal astrocytes PubMed
    env Treatment of CD4+ and CD8+ T cells with HIV-1 gp120 increases the intracellular expression of P-glycoprotein (P-gp) PubMed
    Tat tat Disruption of lipid rafts by depletion of membrane cholesterol with methyl-beta-cyclodextrin abolishes Tat-mediated RhoA activation and P-glycoprotein (P-gp) upregulation PubMed
    tat HIV-1 Tat upregulates expression of P-glycoprotein (P-gp) in brain micro vascular endothelial cells (BMEC) PubMed
    tat HIV-1 Tat represses transcription of the Sp1-dependent MDR1 promoter, suggesting Tat downregulates MDR1 expression PubMed
    integrase gag-pol HIV-1 integrase inhibitors induce a fuctional P-glycoprotein (P-gp) conformation in CD4+ CEM cells, indicating a significant inhibition of P-gp function, suggesting an interaction between integrase and P-gp. PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC163296

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type xenobiotic transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ABC-type xenobiotic transporter activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables ABC-type xenobiotic transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ABC-type xenobiotic transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATPase-coupled transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATPase-coupled transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables carboxylic acid transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ceramide floppase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables efflux transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables efflux transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables efflux transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables floppase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphatidylcholine floppase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylcholine floppase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylethanolamine flippase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables xenobiotic transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables xenobiotic transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables xenobiotic transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G2/M transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in carboxylic acid transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ceramide translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ceramide translocation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in export across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in export across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phospholipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phospholipid translocation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of chloride transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to xenobiotic stimulus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in terpenoid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transepithelial transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transepithelial transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in xenobiotic detoxification by transmembrane export across the plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic detoxification by transmembrane export across the plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in xenobiotic detoxification by transmembrane export across the plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in xenobiotic transport across blood-brain barrier IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in xenobiotic transport across blood-brain barrier IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in xenobiotic transport across blood-brain barrier ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in external side of apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ATP-dependent translocase ABCB1
    Names
    ATP-binding cassette, sub-family B (MDR/TAP), member 1
    P-glycoprotein 1
    colchicin sensitivity
    doxorubicin resistance
    multidrug resistance protein 1
    phospholipid transporter ABCB1
    NP_000918.2
    NP_001335873.1
    NP_001335874.1
    NP_001335875.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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
      117365..215232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000927.5 → NP_000918.2  ATP-dependent translocase ABCB1 isoform 2

      See identical proteins and their annotated locations for NP_000918.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AA776371, AC002457, AC005068, AK290159
      Consensus CDS
      CCDS5608.1
      UniProtKB/Swiss-Prot
      A8K294, B5AK60, P08183, Q12755, Q14812
      UniProtKB/TrEMBL
      A1L471, A4D1D2
      Related
      ENSP00000265724.3, ENST00000265724.8
      Conserved Domains (1) summary
      PTZ00265
      Location:53 → 1267
      PTZ00265; multidrug resistance protein (mdr1); Provisional

    2. NM_001348944.2 → NP_001335873.1  ATP-dependent translocase ABCB1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AC002457, AC005068
      Consensus CDS
      CCDS5608.1
      UniProtKB/Swiss-Prot
      A8K294, B5AK60, P08183, Q12755, Q14812
      UniProtKB/TrEMBL
      A1L471, A4D1D2
      Conserved Domains (1) summary
      PTZ00265
      Location:53 → 1267
      PTZ00265; multidrug resistance protein (mdr1); Provisional

    3. NM_001348945.2 → NP_001335874.1  ATP-dependent translocase ABCB1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC002457, AC005068
      UniProtKB/TrEMBL
      A1L471
      Conserved Domains (1) summary
      PTZ00265
      Location:123 → 1337
      PTZ00265; multidrug resistance protein (mdr1); Provisional

    4. NM_001348946.2 → NP_001335875.1  ATP-dependent translocase ABCB1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AB208970, AC005068, AY425005, BC130424, EU852583
      Consensus CDS
      CCDS5608.1
      UniProtKB/Swiss-Prot
      A8K294, B5AK60, P08183, Q12755, Q14812
      UniProtKB/TrEMBL
      A1L471, A4D1D2
      Related
      ENSP00000478255.1, ENST00000622132.5
      Conserved Domains (1) summary
      PTZ00265
      Location:53 → 1267
      PTZ00265; multidrug resistance protein (mdr1); Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      87503017..87713295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      88752787..88963178 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08183.3 GenPept UniProtKB/Swiss-Prot:P08183

    Gene LinkOut

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

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