ABCB1 Gene

HGNC Family	ATP binding cassette transporters (ABC), CD molecules (CD)
Name	ATP-binding cassette, sub-family B (MDR/TAP), member 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ABCB1, also known as the MDR1 gene, encodes P‐glycoprotein (P‐gp), an ATP‐dependent membrane efflux transporter that plays a critical role in drug disposition and multidrug resistance. Functional studies have shown that even synonymous polymorphisms can alter the timing of protein folding and modify the conformation of P‐gp, thereby impacting its interactions with substrates and inhibitors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n P‐gp is expressed at key barrier sites—including the intestinal epithelium, blood–brain barrier, liver, and kidney—where it acts to restrict xenobiotic entry and promote drug clearance."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "5"}]}, {"type": "t", "text": " This barrier function is a principal determinant of the pharmacokinetic profiles of many drugs, where modifications in ABCB1 activity directly influence absorption, distribution, and excretion.\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Genetic variations in ABCB1 have been associated with altered clinical responses to a range of therapeutics. For instance, specific allelic variants have been linked to variability in the antiplatelet efficacy of clopidogrel, differences in digoxin pharmacokinetics, and even variability in antidepressant treatment outcomes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}, {"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " These associations contribute to interindividual differences in drug efficacy and toxicity, underscoring the importance of ABCB1 as a pharmacogenomic biomarker in personalized medicine."}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, upregulation of ABCB1 is a common mechanism underlying multidrug resistance in several diseases, including epilepsy and various cancers. Overexpression of P‐gp enhances the efflux of chemotherapeutic agents such as doxorubicin, thereby reducing intracellular drug accumulation and diminishing treatment efficacy. Notably, targeted modulation of ABCB1 expression—for example, via microRNAs—can resensitize resistant cancer cells to chemotherapy."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "11"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Recent high-resolution structural studies using cryo-electron microscopy have provided further insight into the drug-binding pocket of ABCB1 and elucidated the dynamic conformational changes that occur during substrate transport."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Overall, these findings highlight the multifaceted role of ABCB1/P‐gp in mediating drug transport across biological membranes, influencing pharmacokinetics, and contributing to clinical drug resistance.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Chava Kimchi-Sarfaty, Jung Mi Oh, In-Wha Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A \"silent\" polymorphism in the MDR1 gene changes substrate specificity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1135308"}], "href": "https://doi.org/10.1126/science.1135308"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17185560"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17185560"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Suresh V Ambudkar, Chava Kimchi-Sarfaty, Zuben E Sauna, et al. "}, {"type": "b", "children": [{"type": "t", "text": "P-glycoprotein: from genomics to mechanism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.onc.1206948"}], "href": "https://doi.org/10.1038/sj.onc.1206948"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14576852"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14576852"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Amer Alam, Julia Kowal, Eugenia Broude, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural insight into substrate and inhibitor discrimination by human P-glycoprotein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.aav7102"}], "href": "https://doi.org/10.1126/science.aav7102"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30765569"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30765569"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "King Leung Fung, Michael M Gottesman "}, {"type": "b", "children": [{"type": "t", "text": "A synonymous polymorphism in a common MDR1 (ABCB1) haplotype shapes protein function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbapap.2009.02.014"}], "href": "https://doi.org/10.1016/j.bbapap.2009.02.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19285158"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19285158"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Manfred Uhr, Alina Tontsch, Christian Namendorf, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polymorphisms in the drug transporter gene ABCB1 predict antidepressant treatment response in depression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuron (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neuron.2007.11.017"}], "href": "https://doi.org/10.1016/j.neuron.2007.11.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18215618"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18215618"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Tabassome Simon, Céline Verstuyft, Murielle Mary-Krause, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic determinants of response to clopidogrel and cardiovascular events."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "N Engl J Med (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1056/NEJMoa0808227"}], "href": "https://doi.org/10.1056/NEJMoa0808227"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19106083"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19106083"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Lars Wallentin, Stefan James, Robert F Storey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Effect of CYP2C19 and ABCB1 single nucleotide polymorphisms on outcomes of treatment with ticagrelor versus clopidogrel for acute coronary syndromes: a genetic substudy of the PLATO trial."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Lancet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S0140-6736(10)61274-3"}], "href": "https://doi.org/10.1016/S0140-6736(10"}, {"type": "t", "text": "61274-3) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20801498"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20801498"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Andreas Johne, Karla Köpke, Thomas Gerloff, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Modulation of steady-state kinetics of digoxin by haplotypes of the P-glycoprotein MDR1 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Pharmacol Ther (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1067/mcp.2002.129196"}], "href": "https://doi.org/10.1067/mcp.2002.129196"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12426522"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12426522"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Asra Siddiqui, Reinhold Kerb, Michael E Weale, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "N Engl J Med (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1056/NEJMoa021986"}], "href": "https://doi.org/10.1056/NEJMoa021986"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12686700"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12686700"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Jessica L Mega, Sandra L Close, Stephen D Wiviott, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variants in ABCB1 and CYP2C19 and cardiovascular outcomes after treatment with clopidogrel and prasugrel in the TRITON-TIMI 38 trial: a pharmacogenetic analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Lancet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S0140-6736(10)61273-1"}], "href": "https://doi.org/10.1016/S0140-6736(10"}, {"type": "t", "text": "61273-1) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20801494"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20801494"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Lili Bao, Sidhartha Hazari, Smriti Mehra, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased expression of P-glycoprotein and doxorubicin chemoresistance of metastatic breast cancer is regulated by miR-298."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Pathol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajpath.2012.02.024"}], "href": "https://doi.org/10.1016/j.ajpath.2012.02.024"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22521303"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22521303"}]}]}]}
Synonyms	ABC20, MDR1, CD243, GP170, P-GP, CLCS, PGY1
Proteins	MDR1_HUMAN
NCBI Gene ID	5243
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ABCB1 has 15,568 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 136 datasets.

Click the + buttons to view associations for ABCB1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ABCB1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by ABCB1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ABCB1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ABCB1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ABCB1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ABCB1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ABCB1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving ABCB1 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ABCB1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ABCB1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ABCB1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ABCB1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ABCB1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ABCB1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ABCB1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ABCB1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ABCB1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ABCB1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ABCB1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with ABCB1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ABCB1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ABCB1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ABCB1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ABCB1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ABCB1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ABCB1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ABCB1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ABCB1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ABCB1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ABCB1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ABCB1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ABCB1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ABCB1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ABCB1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ABCB1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ABCB1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ABCB1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ABCB1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ABCB1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ABCB1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ABCB1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.