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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
86
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
COLCHICINE RESISTANCE Pathogenic rs1128501 RCV000014697
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Idiopathic generalized epilepsy Likely pathogenic rs2117129739 RCV001509550
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ABCB1-related disorder Benign; Likely benign; drug response; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTISOCIAL PERSONALITY DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 28714181
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 19784880, 20801494, 20801498, 23148794, 25542807, 29936693, 31778598
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 1673636, 17852455, 2202383, 29990841
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10198619, 10500774, 10500786, 10897123, 11185984, 12028995, 1283551, 1380280, 16522547, 16614510, 18271955, 1859877, 18702870, 19635183, 21133625
View all (16 more)
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10897123, 11323101, 11531016, 11801309, 11849207, 11964305, 12028995, 12410571, 12691146, 12780787, 1283551, 12851703, 14618619, 14712291, 15102684
View all (44 more)
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 8528062
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 10214864, 10233413, 10374860, 10500779, 10500792, 11301107, 11986944, 12010657, 1283551, 12926083, 15109536, 15217827, 17038891, 18001833, 19288261
View all (6 more)
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia BEFREE 10602414
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia BEFREE 10500792
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia, minimal differentiation Myeloid Leukemia BEFREE 10602414
★☆☆☆☆
Found in Text Mining only