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

Gene ID: 5243, updated on 22-Feb-2020

Summary

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
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. 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

Genomic context

See ABCB1 in Genome Data Viewer
Location:
7q21.12
Exon count:
32
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (87503017..87713323, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (87133179..87342639, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene TP53 target 1 Neighboring gene carnitine O-octanoyltransferase Neighboring gene ATP binding cassette subfamily B 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 origin of replication in promoter of DBF4 Neighboring gene DBF4 zinc finger

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163296

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide-translocating ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide-translocating ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
efflux transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
efflux transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylcholine-translocating ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine-translocating ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylethanolamine-translocating ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylethanolamine-translocating ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
xenobiotic transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
xenobiotic transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
xenobiotic transmembrane 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 
ceramide translocation IDA
Inferred from Direct Assay
more info
PubMed 
drug transport across blood-brain barrier IC
Inferred by Curator
more info
PubMed 
drug transport across blood-brain barrier ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
export across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid translocation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of anion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of chloride transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of response to osmotic stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to drug TAS
Traceable Author Statement
more info
PubMed 
stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
transepithelial transport IDA
Inferred from Direct Assay
more info
PubMed 
transepithelial transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
external side of apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ATP-dependent translocase ABCB1
Names
ATP-binding cassette, sub-family B (MDR/TAP), member 1
P glycoprotein
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)

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_000927.4NP_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, AK290159
    Consensus CDS
    CCDS5608.1
    UniProtKB/Swiss-Prot
    P08183
    UniProtKB/TrEMBL
    A4D1D2
    Related
    ENSP00000265724.3, ENST00000265724.8
    Conserved Domains (1) summary
    cl28181
    Location:531267
    AAA; ATPases associated with a variety of cellular activities
  2. NM_001348944.1NP_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
    Conserved Domains (1) summary
    cl28181
    Location:531267
    AAA; ATPases associated with a variety of cellular activities
  3. NM_001348945.1NP_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
    Conserved Domains (1) summary
    cl28181
    Location:1231337
    AAA; ATPases associated with a variety of cellular activities
  4. NM_001348946.2NP_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
    Related
    ENSP00000478255.1, ENST00000622132.5
    Conserved Domains (1) summary
    cl28181
    Location:531267
    AAA; ATPases associated with a variety of cellular activities

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    87503017..87713323 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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