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Aliases for ABCB1 Gene

Aliases for ABCB1 Gene

  • ATP Binding Cassette Subfamily B Member 1 2 3 5
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 1 2 3
  • Colchicin Sensitivity 2 3
  • P-Glycoprotein 1 3 4
  • EC 3.6.3.44 4 63
  • MDR1 3 4
  • PGY1 3 4
  • ATP-Binding Cassette Sub-Family B Member 1 4
  • Multidrug Resistance Protein 1 2
  • Doxorubicin Resistance 3
  • CD243 Antigen 4
  • EC 3.6.3 63
  • ABC20 3
  • CD243 3
  • GP170 3
  • P-GP 3
  • CLCS 3

External Ids for ABCB1 Gene

Previous HGNC Symbols for ABCB1 Gene

  • PGY1
  • MDR1
  • CLCS

Previous GeneCards Identifiers for ABCB1 Gene

  • GC07M085668
  • GC07M086731
  • GC07M086745
  • GC07M086744
  • GC07M086777
  • GC07M086970
  • GC07M087132
  • GC07M081743

Summaries for ABCB1 Gene

Entrez Gene Summary for ABCB1 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCB1 Gene

ABCB1 (ATP Binding Cassette Subfamily B Member 1) is a Protein Coding gene. Diseases associated with ABCB1 include Colchicine Resistance and Inflammatory Bowel Disease 13. Among its related pathways are Statin Pathway - Generalized, Pharmacokinetics and Phenytoin Pathway, Pharmacokinetics. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB11.

UniProtKB/Swiss-Prot for ABCB1 Gene

  • Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells.

Tocris Summary for ABCB1 Gene

  • ATP-binding cassette (ABC) transporters form one of the largest groups of paralogous protein families that have a wide diversity of functions and substrates. Specificity has been shown for small and large molecules, highly charged molecules and highly hydrophobic systems.

Gene Wiki entry for ABCB1 Gene

PharmGKB "VIP" Summary for ABCB1 Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for ABCB1 Gene

Genomics for ABCB1 Gene

Regulatory Elements for ABCB1 Gene

Enhancers for ABCB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ABCB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCB1 Gene

Chromosome:
7
Start:
87,503,633 bp from pter
End:
87,713,323 bp from pter
Size:
209,691 bases
Orientation:
Minus strand

Genomic View for ABCB1 Gene

Genes around ABCB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB1 Gene

Proteins for ABCB1 Gene

  • Protein details for ABCB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08183-MDR1_HUMAN
    Recommended name:
    Multidrug resistance protein 1
    Protein Accession:
    P08183
    Secondary Accessions:
    • A8K294
    • B5AK60
    • Q12755
    • Q14812

    Protein attributes for ABCB1 Gene

    Size:
    1280 amino acids
    Molecular mass:
    141479 Da
    Quaternary structure:
    • Interacts with PSMB5. Finds in a complex with ABCB1, TFPI2 and PPP2R3C; leading to the dephosphorylation of ABCB1.
    SequenceCaution:
    • Sequence=AAM49149.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCB1 Gene

Proteomics data for ABCB1 Gene at MOPED

Post-translational modifications for ABCB1 Gene

  • Ubiquitination at Lys 279, Lys 367, Lys 515, Lys 519, Lys 915, Lys 1093, and Lys 1164
  • Glycosylation at Asn 91, Asn 94, and Asn 99
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCB1 Gene

Domains & Families for ABCB1 Gene

Gene Families for ABCB1 Gene

Protein Domains for ABCB1 Gene

Graphical View of Domain Structure for InterPro Entry

P08183

UniProtKB/Swiss-Prot:

MDR1_HUMAN :
  • Contains 2 ABC transmembrane type-1 domains.
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
Domain:
  • Contains 2 ABC transmembrane type-1 domains.
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
genes like me logo Genes that share domains with ABCB1: view

Function for ABCB1 Gene

Molecular function for ABCB1 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 1,putatively activated by random chromosomal rearrangements,and overexpressed in acute myeloid leukemia and cancer cell lines,by hypomethylation of the promoter and altered chromatin structure,up-regulated by P/CAF
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out).
UniProtKB/Swiss-Prot Function:
Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells.

Enzyme Numbers (IUBMB) for ABCB1 Gene

Gene Ontology (GO) - Molecular Function for ABCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008559 xenobiotic-transporting ATPase activity IEA,TAS --
genes like me logo Genes that share ontologies with ABCB1: view
genes like me logo Genes that share phenotypes with ABCB1: view

Human Phenotype Ontology for ABCB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCB1 Gene

MGI Knock Outs for ABCB1:

Animal Model Products

CRISPR Products

miRNA for ABCB1 Gene

No data available for Transcription Factor Targets and HOMER Transcription for ABCB1 Gene

Localization for ABCB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCB1 Gene COMPARTMENTS Subcellular localization image for ABCB1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 4
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
mitochondrion 2
vacuole 2
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ABCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane TAS 3022150
genes like me logo Genes that share ontologies with ABCB1: view

Pathways & Interactions for ABCB1 Gene

genes like me logo Genes that share pathways with ABCB1: view

Gene Ontology (GO) - Biological Process for ABCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle IDA 19384922
GO:0006810 transport IEA,TAS 3022150
GO:0042493 response to drug TAS 3022150
GO:0042908 xenobiotic transport IEA,TAS --
genes like me logo Genes that share ontologies with ABCB1: view

No data available for SIGNOR curated interactions for ABCB1 Gene

Drugs & Compounds for ABCB1 Gene

(449) Drugs for ABCB1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist, binder, Transporter, substrate, inhibitor Tubulin Inhibitor, Inhibitor of tubulin 105
Tacrolimus Approved, Investigational Pharma Transporter, substrate, inhibitor, inducer 1045
Atazanavir Approved, Investigational Pharma Transporter, substrate, inhibitor HIV protease inhibitor,highly potent 0
Cisplatin Approved Pharma Transporter, substrate Inhibits DNA synthesis,chemotherapy drug, Platinum 2569
Daunorubicin Approved Pharma Transporter, substrate, inhibitor, inducer 254

(69) Additional Compounds for ABCB1 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MK 571
115104-28-4
2-Hydroxychlorpropamide
36892-36-1
3',4'-Dihydrodiol
4-Hydroxycyclophosphamide
40277-05-2
4'-Hydroxydiclofenac
  • (O-(2,6-Dichloro-4-hydroxyanilino)phenyl)acetic acid
  • 4'-Hydroxy diclofenac
  • 4'-OH DCF
  • {2-[(2,6-dichloro-4-hydroxyphenyl)amino]phenyl}acetic acid
64118-84-9

(5) Tocris Compounds for ABCB1 Gene

Compound Action Cas Number
Estropipate Estrogen receptor agonist and OATP1B1 inhibitor 7280-37-7
Fumitremorgin C Inhibitor of BCRP-mediated multidrug resistance 118974-02-0
Ko 143 Potent and selective BCRP inhibitor 461054-93-3
MK 571 Potent CysLT1 (LTD4) inverse agonist. Also MRP1 inhibitor 115104-28-4
Reversan Selective MRP1 and P-gp inhibitor 313397-13-6

(3) ApexBio Compounds for ABCB1 Gene

Compound Action Cas Number
Elacridar BCRP inhibitor 143664-11-3
LY335979 (Zosuquidar 3HCL) Pgp (P-glycoprotein) inhibitor 167465-36-3
Tariquidar P-glycoprotein inhibitor,potent and non-competitive 206873-63-4
genes like me logo Genes that share compounds with ABCB1: view

Drug Products

Transcripts for ABCB1 Gene

Unigene Clusters for ABCB1 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ABCB1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB1 Gene

No ASD Table

Relevant External Links for ABCB1 Gene

GeneLoc Exon Structure for
ABCB1
ECgene alternative splicing isoforms for
ABCB1

Expression for ABCB1 Gene

mRNA expression in normal human tissues for ABCB1 Gene

mRNA differential expression in normal tissues according to GTEx for ABCB1 Gene

This gene is overexpressed in Adrenal Gland (x18.3).

Protein differential expression in normal tissues from HIPED for ABCB1 Gene

This gene is overexpressed in Amniocyte (52.1) and Urine (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCB1 Gene



SOURCE GeneReport for Unigene cluster for ABCB1 Gene Hs.489033

mRNA Expression by UniProt/SwissProt for ABCB1 Gene

P08183-MDR1_HUMAN
Tissue specificity: Expressed in liver, kidney, small intestine and brain.
genes like me logo Genes that share expression patterns with ABCB1: view

Primer Products

No data available for Protein tissue co-expression partners for ABCB1 Gene

Orthologs for ABCB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABCB1 35
  • 85.86 (n)
  • 86.43 (a)
-- 36
  • 66 (a)
OneToMany
ABCB1 36
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ABCB1 35
  • 90.06 (n)
  • 90.61 (a)
MDR1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb1a 35
  • 86.07 (n)
  • 87.61 (a)
Abcb1a 16
Abcb1a 36
  • 88 (a)
OneToMany
Abcb1b 36
  • 81 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ABCB1 35
  • 99.56 (n)
  • 99.53 (a)
ABCB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcb1a 35
  • 85.73 (n)
  • 87.57 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 73 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 36
  • 65 (a)
ManyToMany
ABCB1LB 36
  • 64 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 70 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb1 35
  • 67.99 (n)
  • 69.98 (a)
MGC76216 35
zebrafish
(Danio rerio)
Actinopterygii abcb4 36
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10226 37
  • 65 (a)
Mdr49 37
  • 42 (a)
Mdr50 37
  • 44 (a)
Mdr65 37
  • 41 (a)
Mdr50 35
  • 51.39 (n)
  • 45.26 (a)
CG10226 36
  • 39 (a)
ManyToMany
Mdr49 36
  • 42 (a)
ManyToMany
Mdr50 36
  • 42 (a)
ManyToMany
Mdr65 36
  • 41 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pgp-1 37
  • 45 (a)
pgp-11 37
  • 33 (a)
pgp-12 37
  • 38 (a)
pgp-13 37
  • 36 (a)
pgp-14 37
  • 38 (a)
pgp-15 37
  • 37 (a)
pgp-2 37
  • 45 (a)
pgp-4 37
  • 40 (a)
pgp-5 37
  • 36 (a)
pgp-6 37
  • 36 (a)
pgp-7 37
  • 36 (a)
pgp-9 35
  • 52.1 (n)
  • 47.2 (a)
pgp-1 36
  • 43 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 36
  • 26 (a)
OneToMany
STE6 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ABCB4 35
  • 51.91 (n)
  • 44.53 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1243 35
rice
(Oryza sativa)
Liliopsida Os.20120 35
Os01g0695700 35
  • 51.8 (n)
  • 44.27 (a)
corn
(Zea mays)
Liliopsida Zm.4341 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07546 35
  • 49.85 (n)
  • 43.54 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pmd1 35
  • 48.59 (n)
  • 41.92 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7248 36
  • 52 (a)
ManyToMany
Species with no ortholog for ABCB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCB1 Gene

ENSEMBL:
Gene Tree for ABCB1 (if available)
TreeFam:
Gene Tree for ABCB1 (if available)

Paralogs for ABCB1 Gene

Paralogs for ABCB1 Gene

genes like me logo Genes that share paralogs with ABCB1: view

Variants for ABCB1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB1 Gene

MDR1_HUMAN-P08183
Genetic variation in ABCB1 may play a role in patients who do not respond to drug treatment.

Sequence variations from dbSNP and Humsavar for ABCB1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2032582 -, - 87,531,302(-) AAGGT(A/G/T)CTGGG reference, missense
rs9282564 - 87,600,124(-) TGAAC(A/C/G/T)ATAAA reference, missense
VAR_015001 -
rs1128501 - 87,566,218(-) TGAAG(G/T)AATTG reference, missense
rs2229109 - 87,550,493(-) CTTCA(A/G/T)TTACC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ABCB1 Gene

Variant ID Type Subtype PubMed ID
nsv888677 CNV Gain 21882294
nsv464622 CNV Gain 19166990
nsv464623 CNV Gain 19166990
nsv888691 CNV Gain 21882294
esv2734775 CNV Deletion 23290073
nsv888692 CNV Loss 21882294
esv2734776 CNV Deletion 23290073
esv7655 CNV Loss 19470904
esv2666273 CNV Deletion 23128226
esv28195 CNV Loss 19812545
dgv7384n71 CNV Loss 21882294
nsv888695 CNV Loss 21882294

Variation tolerance for ABCB1 Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.21; 62.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCB1 Gene

Human Gene Mutation Database (HGMD)
ABCB1

Disorders for ABCB1 Gene

MalaCards: The human disease database

(85) MalaCards diseases for ABCB1 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ABCB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MDR1_HUMAN
  • Inflammatory bowel disease 13 (IBD13) [MIM:612244]: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for ABCB1

Genetic Association Database (GAD)
ABCB1
Human Genome Epidemiology (HuGE) Navigator
ABCB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCB1
genes like me logo Genes that share disorders with ABCB1: view

No data available for Genatlas for ABCB1 Gene

Publications for ABCB1 Gene

  1. Xenopus laevis oocytes expressing human P-glycoprotein: probing trans- and cis-inhibitory effects on [3H]vinblastine and [3H]digoxin efflux. (PMID: 19631272) Jutabha P. … Endou H. (Pharmacol. Res. 2010) 3 23 25 26
  2. Breast cancer resistance protein and P-glycoprotein limit sorafenib brain accumulation. (PMID: 20103600) Lagas J.S. … Schinkel A.H. (Mol. Cancer Ther. 2010) 3 23 25 26
  3. Modulation of vinca-alkaloid induced P-glycoprotein expression by indole-3-carbinol. (PMID: 12490309) Arora A. … Shukla Y. (Cancer Lett. 2003) 3 23 25 26
  4. MDR1 Ala893 polymorphism is associated with inflammatory bowel disease. (PMID: 14610718) Brant S.R. … Cho J.H. (Am. J. Hum. Genet. 2003) 3 4 48 67
  5. Influence of pharmacogenetics on response and toxicity in breast cancer patients treated with doxorubicin and cyclophosphamide. (PMID: 20179710) Bray J. … Boddy A.V. (Br. J. Cancer 2010) 3 25 26

Products for ABCB1 Gene

Sources for ABCB1 Gene

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