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ABCB1 (ATP binding cassette subfamily B member 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5243
Gene nameGene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily B member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ABCB1
SynonymsGene synonyms aliases
ABC20, CD243, CLCS, GP170, MDR1, P-GP, PGY1, p-170
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.12
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs3842 T>C Drug-response 3 prime UTR variant
rs17064 T>A Drug-response 3 prime UTR variant
rs868755 T>A,C,G Drug-response Intron variant
rs1016793 G>A Drug-response Intron variant
rs1045642 A>C,G,T Not-provided, drug-response, benign Missense variant, coding sequence variant, synonymous variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005656 hsa-miR-451a qRT-PCR, Luciferase reporter assay, Western blot 18645025
MIRT054152 hsa-miR-129-5p Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 25344911
MIRT054152 hsa-miR-129-5p Luciferase reporter assay, qRT-PCR, Western blot 28012924
MIRT054158 hsa-miR-508-5p Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 23893241
MIRT438673 hsa-miR-223-3p GFP reporter assay, qRT-PCR, Western blot 23925649
Transcription factors
Transcription factor Regulation Reference
CDX2 Unknown 20699370
CEBPB Activation 15044620
E2F1 Activation 23542036
EAPP Activation 23542036
EGR1 Activation 11488907;7565762
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IDA 19384922
GO:0005515 Function Protein binding IPI 17088979, 20711237
GO:0005524 Function ATP binding IDA 28757552
GO:0005654 Component Nucleoplasm IDA
GO:0005886 Component Plasma membrane IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P08183
Protein name ATP-dependent translocase ABCB1 (ATP-binding cassette sub-family B member 1) (Multidrug resistance protein 1) (EC 7.6.2.2) (P-glycoprotein 1) (Phospholipid transporter ABCB1) (EC 7.6.2.1) (CD antigen CD243)
Protein function Translocates drugs and phospholipids across the membrane (PubMed:8898203, PubMed:2897240, PubMed:9038218). Catalyzes the flop of phospholipids from the cytoplasmic to the exoplasmic leaflet of the apical membrane. Participates mainly to the flop of phosphatidylcholine, phosphatidylethanolamine, beta-D-glucosylceramides and sphingomyelins (PubMed:8898203). Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:2897240, PubMed:9038218).
PDB 6C0V , 6FN1 , 6FN4 , 6QEX , 7A65 , 7A69 , 7A6C , 7A6E , 7A6F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00664 ABC_membrane
51 343
ABC transporter transmembrane region
Family
PF00005 ABC_tran
410 559
ABC transporter
Domain
PF00664 ABC_membrane
711 986
ABC transporter transmembrane region
Family
PF00005 ABC_tran
1053 1204
ABC transporter
Domain
Sequence
MDLEGDRNGGAKKKNFFKLNNKSEKDKKEKKPTVSVFSMFRYSNWLDKLYMVVGTLAAII
HGAGLPLMMLVFGEMTDIFANAGNLEDLMSNITNRSDINDTGFFMNLEEDMTRYAYYYSG
IGAGVLVAAYIQVSFWCLAAGRQIHKIRKQFFHAIMRQEIGWFDVHDVGELNTRLTDDVS
KINEGIGDKIGMFFQSMATFFTGFIVGFTRGWKLTLVILAISPVLGLSAAVWAKILSSFT
DKELLAYAKAGAVAEEVLAAIRTVIAFGGQKKELERYNKNLEEAKRIGIKKAITANISIG
AAFLLIYASYALAFWYGTTLVLSGEYSIGQVLTVFFSVLIGAF
SVGQASPSIEAFANARG
AAYEIFKIIDNKPSIDSYSKSGHKPDNIKGNLEFRNVHFSYPSRKEVKILKGLNLKVQSG
QTVALVGNSGCGKSTTVQLMQRLYDPTEGMVSVDGQDIRTINVRFLREIIGVVSQEPVLF
ATTIAENIRYGRENVTMDEIEKAVKEANAYDFIMKLPHKFDTLVGERGAQLSGGQKQRIA
IARALVRNPKILLLDEATS
ALDTESEAVVQVALDKARKGRTTIVIAHRLSTVRNADVIAG
FDDGVIVEKGNHDELMKEKGIYFKLVTMQTAGNEVELENAADESKSEIDALEMSSNDSRS
SLIRKRSTRRSVRGSQAQDRKLSTKEALDESIPPVSFWRIMKLNLTEWPYFVVGVFCAII
NGGLQPAFAIIFSKIIGVFTRIDDPETKRQNSNLFSLLFLALGIISFITFFLQGFTFGKA
GEILTKRLRYMVFRSMLRQDVSWFDDPKNTTGALTTRLANDAAQVKGAIGSRLAVITQNI
ANLGTGIIISFIYGWQLTLLLLAIVPIIAIAGVVEMKMLSGQALKDKKELEGSGKIATEA
IENFRTVVSLTQEQKFEHMYAQSLQVPYRNSLRKAHIFGITFSFTQAMMYFSYAGCFRFG
AYLVAHKLMSFEDVLLVFSAVVFGAM
AVGQVSSFAPDYAKAKISAAHIIMIIEKTPLIDS
YSTEGLMPNTLEGNVTFGEVVFNYPTRPDIPVLQGLSLEVKKGQTLALVGSSGCGKSTVV
QLLERFYDPLAGKVLLDGKEIKRLNVQWLRAHLGIVSQEPILFDCSIAENIAYGDNSRVV
SQEEIVRAAKEANIHAFIESLPNKYSTKVGDKGTQLSGGQKQRIAIARALVRQPHILLLD
EATS
ALDTESEKVVQEALDKAREGRTCIVIAHRLSTIQNADLIVVFQNGRVKEHGTHQQL
LAQKGIYFSMVSVQAGTKRQ
Sequence length 1280
Interactions View interactions

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