Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5243
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily B member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCB1
Synonyms (NCBI Gene) Gene synonyms aliases
ABC20, CD243, CLCS, ENPAT, GP170, MDR1, P-GP, PGY1, p-170
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ENPAT
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.12
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 25344911
MIRT054158 hsa-miR-508-5p Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 23893241
MIRT054158 hsa-miR-508-5p Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 23893241
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
171050 40 ENSG00000085563
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:2897240, PubMed:35970996, PubMed:8898203, PubMed:9038218, PubMed:35507548). Catalyzes the flop of phospholipids from the cytoplasmic to the exoplasmic leaflet of the apical membran
PDB 6C0V , 6FN1 , 6FN4 , 6QEX , 7A65 , 7A69 , 7A6C , 7A6E , 7A6F , 7O9W , 8Y6H , 8Y6I , 9CR8 , 9CTC , 9CTF , 9CTG
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
Tissue specificity TISSUE SPECIFICITY: Expressed in small intestine (PubMed:28408210). Expressed in liver, kidney and brain. {ECO:0000269|PubMed:28408210}.
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Cholelithiasis Cholelithiasis GWAS
Intrahepatic Cholestasis Of Pregnancy Intrahepatic Cholestasis Of Pregnancy GWAS
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Associate 39394110
Abdominal Pain Associate 23828747
Acquired Immunodeficiency Syndrome Associate 18391751, 20531015, 23372834
Acute Coronary Syndrome Associate 29936693, 31778598
Acute Kidney Injury Associate 28792917
Adenocarcinoma Associate 16107775, 21636699, 26404133, 26632382, 27600491, 28081737, 34065402, 8543635, 8766529
Adenocarcinoma Stimulate 25964055
Adenocarcinoma Bronchiolo Alveolar Associate 19484794
Adenocarcinoma Clear Cell Stimulate 14675314
Adenocarcinoma of Lung Associate 19107762, 27995666, 29768255, 34066059