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

Gene ID: 5243, updated on 2-Nov-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 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. Relation between 3435C>T multidrug resistance 1 gene polymorphism with high dose methylprednisolone treatment of childhood acute idiopathic thrombocytopenic purpura. Akin M, et al. Gene, 2011 Nov 1. PMID 21718764
  2. 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
  3. [ABCB1 polymorphisms in patients with Charcot-Marie-Tooth disease. A possible relationship with neurotoxicity due to cytostatic treatment]. de la Haba-RodrĂ­guez JR, et al. Med Clin (Barc), 2012 Apr 21. PMID 21982686
  4. Microparticle-associated nucleic acids mediate trait dominance in cancer. Jaiswal R, et al. FASEB J, 2012 Jan. PMID 21965597
  5. Impact of ABCB1 variants on neutrophil depression: a pharmacogenomic study of paclitaxel in 92 women with ovarian cancer. Bergmann TK, et al. Basic Clin Pharmacol Toxicol, 2012 Feb. PMID 21955855

See all (1000) 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)

Genotypes

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

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