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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
  • Multidrug Resistance Protein 1 2 3
  • Colchicin Sensitivity 2 3
  • P-Glycoprotein 1 3 4
  • EC 3.6.3.44 4 56
  • MDR1 3 4
  • PGY1 3 4
  • ATP-Binding Cassette Sub-Family B Member 1 4
  • Doxorubicin Resistance 3
  • P Glycoprotein 3
  • CD243 Antigen 4
  • EC 3.6.3 56
  • 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. 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]

CIViC summary for ABCB1 Gene

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 Abacavir transport and metabolism and Vinka Alkaloid Pathway, Pharmacokinetics. Gene Ontology (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 ABCB4.

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

Additional gene information for ABCB1 Gene

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

Genomics for ABCB1 Gene

GeneHancer (GH) Regulatory Elements for ABCB1 Gene

Promoters and enhancers for ABCB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I087598 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 550.1 +113.4 113424 3.2 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 YBX1 ZNF2 ABCB1 RUNDC3B SLC25A40 GC07P087616 GC07P087522
GH07I087713 Promoter 0.5 EPDnew 550.8 +0.0 8 0.1 ABCB1 GC07M087713 GC07M087712 GC07M087698 GC07M087666 RUNDC3B
GH07I087933 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.6 -221.1 -221071 1.7 HDGF PKNOX1 ATF1 ARID4B SIN3A ZBTB7B ZNF48 ETS1 GLIS2 ZNF213 ADAM22 ABCB1 GC07M087968
GH07I087589 Enhancer 0.3 ENCODE 7.2 +122.0 122008 2.9 ZNF189 RUNDC3B ABCB1 GC07P087616 GC07P087522
GH07I087627 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 0.2 +84.7 84690 1.8 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 GLIS2 ZNF143 SP3 RXRA SP5 RUNDC3B DMTF1 SLC25A40 GC07P087616 GC07M087698 ABCB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCB1 gene promoter:

Genomic Locations for ABCB1 Gene

Genomic Locations for ABCB1 Gene
chr7:87,503,633-87,713,323
(GRCh38/hg38)
Size:
209,691 bases
Orientation:
Minus strand
chr7:87,133,175-87,342,639
(GRCh37/hg19)

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

Selected DME Specific Peptides for ABCB1 Gene

P08183:
  • GWKLTLV
  • YGWQLTLLL
  • VQEALDKAR
  • ENIRYGR
  • TGALTTRLA
  • GTHQQLL
  • ILKGLNLKV
  • SGGQKQRIAIARALVRQP
  • LVGSSGCGKSTVVQLLERFY
  • MTRYAYYYSG
  • EVKKGQTL
  • NLFSLLFL
  • QLSGGQKQR
  • DGQDIRTINVR
  • LGIVSQEP
  • QRIAIARA
  • ALDKAREGRT
  • QLSGGQKQRIAIARALVR
  • IAHRLSTVR
  • GQTVALVG
  • RLYDPTEG
  • RNADVIAGF
  • LFDCSIAENI
  • AIRTVIAFGGQ
  • EWPYFVVG
  • VIAHRLST
  • RTVVSLT
  • TFFLQGFTFGKAGEILT
  • KILLLDE
  • GKIATEAIEN
  • KGQTLAL
  • LVRNPKIL
  • SGCGKSTTVQL
  • AFLLIYASYALAFWYG
  • LNVQWLRA
  • ELNTRLTDD
  • LDEATSALDTESE
  • LIGAFSVGQA
  • VIAHRLSTIQNAD
  • LLLDEATSALD
  • LSGQALKDKK
  • AYIQVSFW
  • QEIGWFD
  • SSFAPDYAKA
  • VSQEPVLF
  • FGITFSFTQAMMYFSYA
  • KAVKEANAY
  • AHRLSTI
  • AYAKAGAVAEE
  • ANLGTGII

Post-translational modifications for ABCB1 Gene

  • Ubiquitination at Lys279, posLast=367367, posLast=515515, Lys519, Lys915, Lys1093, and posLast=11641164
  • Glycosylation at posLast=9191, posLast=9494, and posLast=9999

Other Protein References for ABCB1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ABCB1 (ABCB1)

Domains & Families for ABCB1 Gene

Gene Families for ABCB1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

P08183

UniProtKB/Swiss-Prot:

MDR1_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
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

Phenotypes From GWAS Catalog for ABCB1 Gene

Gene Ontology (GO) - Molecular Function for ABCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005215 transporter activity TAS 3022150
GO:0005515 protein binding IPI 17088979
GO:0005524 ATP binding TAS,IEA --
GO:0008559 xenobiotic transmembrane 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

Animal Models for ABCB1 Gene

MGI Knock Outs for ABCB1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ABCB1

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCB1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Focal adhesion sites (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 19384922
GO:0016020 membrane TAS 3022150
GO:0016021 integral component of membrane IEA,TAS --
GO:0016324 apical plasma membrane IDA 8898203
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 TAS 3022150
GO:0006855 drug transmembrane transport IEA --
GO:0042493 response to drug TAS 3022150
GO:0042908 xenobiotic transport IEA --
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

(522) 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, Transporter, substrate, inhibitor, binder Tubulin Inhibitor 118
Tacrolimus Approved, Investigational Pharma Transporter, substrate, inhibitor, inducer 1151
Atazanavir Approved, Investigational Pharma Transporter, substrate, inhibitor HIV protease inhibitor,highly potent 0
Cisplatin Approved Pharma Transporter, substrate Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
Daunorubicin Approved Pharma Transporter, substrate, inhibitor, inducer DNA topoisomerase II inhibitor 291

(68) Additional Compounds for ABCB1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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-Hydroxyomeprazole

(3) Tocris Compounds for ABCB1 Gene

Compound Action Cas Number
Fumitremorgin C Inhibitor of BCRP-mediated multidrug resistance 118974-02-0
Ko 143 Potent and selective BCRP inhibitor 461054-93-3
Pyrimethamine Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor 58-14-0

(16) ApexBio Compounds for ABCB1 Gene

Compound Action Cas Number
Colchicine Tubulin Inhibitor 64-86-8
CP 100356 hydrochloride 142715-48-8
Dofequidar 129716-58-1
Dofequidar fumarate MDR reversal agent 153653-30-6
Elacridar BCRP inhibitor 143664-11-3
Elacridar hydrochloride BCRP and P-GP inhibitor 143851-98-3
Fumitremorgin C 118974-02-0
KS 176 1253452-78-6
LY335979 (Zosuquidar 3HCL) Pgp (P-glycoprotein) inhibitor 167465-36-3
Posaconazole Sterol C14ɑ demethylase inhibitor 171228-49-2
Reversan 313397-13-6
Tariquidar P-glycoprotein inhibitor,potent and non-competitive 206873-63-4
Tariquidar methanesulfonate, hydrate P-glycoprotein inhibitor, potent and selective 625375-83-9
Valspodar P-glycoprotein inhibitor 121584-18-7
Vinblastine sulfate Anti-mitotic agent 143-67-9
Zosuquidar MDR modulator 167354-41-8
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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, MaxQB, and MOPED for ABCB1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABCB1 Gene:

ABCB1

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.

Evidence on tissue expression from TISSUES for ABCB1 Gene

  • Nervous system(4.8)
  • Kidney(3.3)
  • Liver(3.1)
  • Blood(3)
  • Intestine(3)
  • Adrenal gland(2.8)
  • Lung(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCB1 Gene

Germ Layers:
  • endoderm
Systems:
  • digestive
Regions:
Abdomen:
  • intestine
  • large intestine
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
chimpanzee
(Pan troglodytes)
Mammalia ABCB1 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia MDR1 34
  • 91 (a)
OneToOne
ABCB1 33
  • 90.06 (n)
mouse
(Mus musculus)
Mammalia Abcb1a 33 16 34
  • 86.07 (n)
Abcb1b 34
  • 81 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ABCB1 33 34
  • 85.86 (n)
-- 34
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Abcb1a 33
  • 85.73 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 65 (a)
ManyToMany
ABCB1LB 34
  • 64 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 70 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb1 33
  • 67.99 (n)
MGC76216 33
zebrafish
(Danio rerio)
Actinopterygii abcb4 34
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10226 35 34
  • 65 (a)
Mdr50 35 33 34
  • 51.39 (n)
Mdr49 35 34
  • 42 (a)
Mdr65 35 34
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea pgp-9 33
  • 52.1 (n)
pgp-2 35
  • 45 (a)
pgp-1 34 35
  • 43 (a)
ManyToMany
pgp-4 35
  • 40 (a)
pgp-12 35
  • 38 (a)
pgp-14 35
  • 38 (a)
pgp-15 35
  • 37 (a)
pgp-13 35
  • 36 (a)
pgp-5 35
  • 36 (a)
pgp-6 35
  • 36 (a)
pgp-7 35
  • 36 (a)
pgp-11 35
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 34 36
  • 26 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ABCB4 33
  • 51.91 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1243 33
rice
(Oryza sativa)
Liliopsida Os01g0695700 33
  • 51.8 (n)
Os.20120 33
corn
(Zea mays)
Liliopsida Zm.4341 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7248 34
  • 52 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU07546 33
  • 49.85 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pmd1 33
  • 48.59 (n)
Species where no ortholog for ABCB1 was found in the sources mined by GeneCards:
  • 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

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 Variation AA Info Type
rs1045642 benign, drug-response, not-provided, MDR1 POLYMORPHISM, ondansetron response - Efficacy, oxycodone response - Dosage, methadone response - Dosage, methotrexate response - Toxicity/ADR, nevirapine response - Toxicity/ADR, tramadol response - Dosage, morphine response - Dosage, digoxin response - Other, opioids response - Dosage, fentanyl response - Dosage, Non-small cell lung cancer 87,509,329(-) A/G/T coding_sequence_variant, synonymous_variant
rs1128501 pathogenic, Colchicine resistance 87,566,218(-) C/A coding_sequence_variant, missense_variant
rs2032582 benign, drug-response, not-provided, not specified, ondansetron response - Efficacy, simvastatin response - Efficacy, Ovarian Neoplasms 87,531,302(-) A/C/T coding_sequence_variant, missense_variant
VAR_035737 A colorectal cancer sample p.Lys887Asn
rs1128503 benign, not specified 87,550,285(-) A/G coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv981545 CNV duplication 23825009
nsv607728 CNV loss 21841781
nsv607726 CNV gain 21841781
nsv607725 CNV gain 21841781
nsv464623 CNV gain 19166990
nsv464622 CNV gain 19166990
nsv1078845 CNV insertion 25765185
nsv1076930 CNV deletion 25765185
esv7655 CNV loss 19470904
esv3614037 CNV loss 21293372
esv3571956 CNV loss 25503493
esv3542043 CNV deletion 23714750
esv28195 CNV loss 19812545
esv2734776 CNV deletion 23290073
esv2734775 CNV deletion 23290073
esv2666273 CNV deletion 23128226
dgv11489n54 CNV loss 21841781

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)

Additional Variant Information for ABCB1 Gene

Human Gene Mutation Database (HGMD)
ABCB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCB1

Disorders for ABCB1 Gene

MalaCards: The human disease database

(61) MalaCards diseases for ABCB1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
colchicine resistance
  • colchicine sensitivity; clcs
inflammatory bowel disease 13
  • ibd13
uterine sarcoma
  • uterine corpus sarcoma
ulcerative colitis
  • left-sided ulcerative colitis
postural hypotension
- 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.

Additional Disease Information for ABCB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Pharmacological research 2010) 3 22 25 58
  2. Comparative description of haplotype structure and genetic diversity of MDR1 (ABCB1) in HIV-positive and HIV-negative populations. (PMID: 19819348) Benish RL … Mehlotra RK (Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2010) 3 22 44 58
  3. Breast cancer resistance protein and P-glycoprotein limit sorafenib brain accumulation. (PMID: 20103600) Lagas JS … Schinkel AH (Molecular cancer therapeutics 2010) 3 22 25 58
  4. Influence of pharmacogenetics on response and toxicity in breast cancer patients treated with doxorubicin and cyclophosphamide. (PMID: 20179710) Bray J … Boddy AV (British journal of cancer 2010) 3 25 44 58
  5. Genetic variations in ABCB1 and CYP3A5 as well as sex influence quinine disposition among Ugandans. (PMID: 20357698) Mukonzo JK … Aklillu E (Therapeutic drug monitoring 2010) 3 22 44 58

Products for ABCB1 Gene

  • Addgene plasmids for ABCB1

Sources for ABCB1 Gene