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

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; 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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Influence of GPRC5A-Regulated ABCB1 Expression on Lung Adenocarcinoma Proliferation.
Title: Influence of GPRC5A-Regulated ABCB1 Expression on Lung Adenocarcinoma Proliferation.
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.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17678 (e-PCR)
- UniSTS:4896

SHGC-83275 (e-PCR)
- UniSTS:101154

GDB:6028578 (e-PCR)
- UniSTS:64554

GDB:1317328 (e-PCR)
- UniSTS:53814

D7S2326 (e-PCR)
- UniSTS:69986

ABCB1_2602 (e-PCR)
- UniSTS:280419

PGY1 (e-PCR)
- UniSTS:3185

D7S2414 (e-PCR)
- UniSTS:14222

GDB:194851 (e-PCR)
- UniSTS:155808

GDB:1317232 (e-PCR)
- UniSTS:39628

G60182 (e-PCR)
- UniSTS:137441

SHGC-154970 (e-PCR)
- UniSTS:184558

SHGC-56130 (e-PCR)
- UniSTS:63985

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 more info	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

EC 7.6.2.1

EC 7.6.2.2

NP_001335873.1

EC 7.6.2.1

EC 7.6.2.2

NP_001335874.1

EC 7.6.2.1

EC 7.6.2.2

NP_001335875.1

EC 7.6.2.1

EC 7.6.2.2

NCBI Reference Sequences (RefSeq)

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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

NG_011513.1 RefSeqGene

Range

117365..215232

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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