Gene Gene information from NCBI Gene database.
Entrez ID 5243
Gene name ATP binding cassette subfamily B member 1
Gene symbol ABCB1
Synonyms (NCBI Gene)
ABC20CD243CLCSENPATGP170MDR1P-GPPGY1p-170
Chromosome 7
Chromosome location 7q21.12
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
SNPs SNP information provided by dbSNP.
588
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.
22
miRTarBase ID miRNA Experiments Reference
MIRT005656 hsa-miR-451a qRT-PCRLuciferase reporter assayWestern blot 18645025
MIRT054152 hsa-miR-129-5p ImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot 25344911
MIRT054152 hsa-miR-129-5p ImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot 25344911
MIRT054158 hsa-miR-508-5p ImmunohistochemistryIn situ hybridizationLuciferase reporter assayMicroarrayqRT-PCRWestern blot 23893241
MIRT054158 hsa-miR-508-5p ImmunohistochemistryIn situ hybridizationLuciferase reporter assayMicroarrayqRT-PCRWestern blot 23893241
Transcription factors Transcription factors information provided by TRRUST V2 database.
40
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
123
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IDA 19384922
GO:0000166 Function Nucleotide binding IEA
GO:0001666 Process Response to hypoxia IEA
GO:0001890 Process Placenta development IEA
GO:0005515 Function Protein binding IPI 17088979, 20711237
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
171050 40 ENSG00000085563
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ABC transporters
Bile secretion
MicroRNAs in cancer
Gastric cancer
  ABC-family proteins mediated transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
659
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
COLCHICINE RESISTANCE Pathogenic rs1128501 RCV000014697
Idiopathic generalized epilepsy Likely pathogenic rs2117129739 RCV001509550
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ABCB1-related disorder Benign; Likely benign; drug response; Uncertain significance rs2032582, rs2229109, rs1128503, rs1045642, rs2229107, rs41309222, rs200469824, rs201859423, rs138422716, rs35265821, rs187910292, rs1817775401, rs2546975818, rs28381801, rs149482536
View all (7 more)
RCV003975192
RCV003982909
RCV003975269
RCV003975274
RCV003977583
RCV003921902
RCV003974131
RCV003974264
RCV003952218
RCV003914435
RCV003937123
RCV003951450
RCV003926783
RCV003956778
RCV003981885
RCV003971713
RCV003960746
RCV003933122
RCV004758095
RCV003932988
RCV003960490
RCV003953432
RCV003973031
Acute myeloid leukemia Benign rs2032582 RCV005888372
Clear cell carcinoma of kidney Benign rs2032582 RCV005888373
Colon adenocarcinoma Likely benign rs2229107 RCV005938690
Associations from Text MiningDisease associations identified through Pubtator
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