ABCB1 Gene
protein-coding GIFtS : 70
GCID: GC07 M087132
ATP-binding cassette, sub-family B (MDR/TAP), member 1 (Previous name: colchicin sensitivity ) (Previous symbols: PGY1, MDR1, CLCS )
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Aliasesfor ABCB1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section This gene clusters with an RNA geneSubcategory (RNA class): lncRNAQuality score for the ORGUL clustered with this gene is 4 Aliases ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 1 1 2 EC 3.6.3.443 8 MDR11 2 3 5 P-Gp1 PGY11 2 3 5 P-GP2 ABC201 2 Doxorubicin Resistance2 CD2431 2 Multidrug Resistance Protein 12 CLCS1 2 ATP-Binding Cassette Sub-Family B Member 13 GP1701 2 CD243 Antigen3 Colchicin Sensitivity1 2 IBD135 P-Glycoprotein 12 3 EC 3.6.38
External Ids: HGNC: 40 1 Entrez Gene: 5243 2 Ensembl: ENSG00000085563 7 OMIM: 171050 5 UniProtKB: P08183 3 Export aliases for ABCB1 gene to outside databases Previous GC identifers: GC07M085668 GC07M086731 GC07M086745 GC07M086744 GC07M086777 GC07M086970 GC07M081743
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Summariesfor ABCB1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for ABCB1 : 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) UniProtKB/Swiss-Prot: MDR1_HUMAN, P08183 Function : Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells summary
for ABCB1 : P-glycoprotein (ABCB1, MDR1) is a well-characterized human ABC transporter that was the first ABCtransporter implicated in multidrug resistance. Normal physiological expression of P-glycoprotein has beenfound to prevent uptake of some lipophilic drugs into the brain and other key organs. P-glycoprotein isfrequently overexpressed in cancer cells resulting in drugs being pumped out of the cells faster than theycan enter. This causes a lower concentration of the drug in the cell and reduces the effectiveness of thedrugs in killing cancer cells. Drugs that are affected by classical multidrug resistance include the vincaalkaloids (vinblastine and vincristine), the anthracyclines (doxorubicin and daunorubicin), the RNAtranscription inhibitor actinomycin D and the microtubule-stabilizing drug taxol. Gene Wiki entry for ABCB1 (P-glycoprotein) PharmGKB "VIP " summary for
ABCB1 fRNAdb sequence ontology for ABCB1: ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.View fRNAdb secondary structures for ABCB1
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Genomic Viewsfor ABCB1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ABCB1 gene promoter: AML1a AP-1 ATF-2 c-Jun Other transcription factors Search SABiosciences Chromatin IP Primers for ABCB1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCB1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 7q21.12 Ensembl cytogenetic band: 7q21.12 HGNC cytogenetic band: 7q21.12 ABCB1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 7 GeneLoc Exon Structure
GeneLoc location for GC07M087132: view genomic region
(about GC identifiers )
Start:
87,132,948 bp from pter
End:
87,342,611 bp from pter
Size:
209,664 bases
Orientation:
minus strand
1 alternative location : Chr 7-,CRA_TCAG 86,464,460-86,673,878
ORGUL member locations:Legend (see complete legend)
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Proteinsfor ABCB1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: MDR1_HUMAN, P08183 (See
protein sequence )Recommended Name: Multidrug resistance protein 1 Size : 1280 amino acids; 141479 Da
Subunit : Interacts with PSMB5
Subcellular location : Cell membrane; Multi-pass membrane protein (By similarity)
Sequence caution : Sequence=AAM49149.1; Type=Erroneous gene model prediction;
Secondary accessions : A8K294 Q12755 Q14812Explore the universe of human proteins at neXtProt for ABCB1: NX_P08183 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P08183 4/50 DME Specific Peptides for ABCB1 (P08183 ) (see all 50 )ABCB1 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_000918.2 ENSEMBL proteins: ENSP00000265724 ENSP00000411075 ENSP00000399419 ENSP00000444095 Reactome Protein details: P08183 Human Recombinant Protein Products for ABCB1: Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8 ): About this table
ABCB1 for ontologies About GeneDecksing ABCB1 Antibody Products: Assay Products for ABCB1:
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Protein
Domains / Familiesfor ABCB1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ABCB1 for domains About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry P08183 ProtoNet protein and cluster: P08183
UniProtKB/Swiss-Prot: MDR1_HUMAN, P08183 Similarity : Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201)subfamily Similarity : Contains 2 ABC transmembrane type-1 domainsSimilarity : Contains 2 ABC transporter domains
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Functionfor ABCB1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: MDR1_HUMAN, P08183 Function : Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cellsCatalytic activity : ATP + H(2)O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out)
Genatlas biochemistry entry for ABCB1 : 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 Enzyme Numbers (IUBMB): EC 3.6.3.44 1 2 EC 3.6.3 2 Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view) : About this table
ABCB1 for ontologies About GeneDecksing Phenotypes: 1 GenomeRNAi human phenotype for ABCB1 : 13 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Abcb1a) :
ABCB1 for phenotypes About GeneDecksing Animal Models: Mouse knock-out Abcb1a tm1Bor for ABCB1Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCB1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCB1OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ABCB1 (NM_000927 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCB1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABCB1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB1
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Pathways & Interactionsfor ABCB1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/29 super-pathways (see all 29 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Irinotecan Pathway, Pharmacokinetics 2 Citalopram Pathway, Pharmacokinetics 3 Gefitinib Pathway, Pharmacokinetics 4 Pravastatin Pathway, Pharmacokinetics 5 Abacavir transport and metabolism
Pathway sources See GeneCards unified pathways Show all pathways 3 EMD Millipore Pathways for ABCB1 1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ABCB1 1
Cell Signaling Technology (CST) Pathway for ABCB1 5/6 BioSystems Pathways for ABCB1 (see all 6 ) 5
Reactome Pathways for ABCB1 5/28 PharmGKB Pathways for ABCB1 (see all 28 )2
Kegg Pathways (Kegg details for ABCB1) :
ABCB1 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCB1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 21)5/30 Interacting proteins for ABCB1 (P08183 1 , 2 , 3 ENSP00000265724 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 30 )About this table Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7 ): About this table
ABCB1 for ontologies About GeneDecksing
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Drugs & Compoundsfor ABCB1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
ABCB1 for compounds About GeneDecksing
Enzo Life Sciences drugs & compounds for ABCB1
Compounds for ABCB1 available from Tocris Bioscience About this table 10/257 DrugBank Compounds for ABCB1 (see all 257 ) About this table 10/131 Novoseek chemical compound relationships for ABCB1 gene (see all 131 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
rhodamine 123
94.9
877
7669666 (6), 15067695 (6), 11042226 (5), 16647797 (5) (see all 99 )
verapamil
91.7
832
7749215 (7), 7906257 (6), 7838133 (6), 10870315 (5) (see all 99 )
daunorubicin
91.4
518
10025900 (6), 10444168 (5), 8593279 (4), 7914424 (4) (see all 99 )
psc-833
91.1
166
19763573 (6), 9827923 (3), 8639853 (3), 12949955 (3) (see all 86 )
doxorubicin
90.8
858
8911123 (6), 19035180 (5), 12940627 (4), 11042226 (4) (see all 99 )
vinblastine
89.4
364
8094005 (4), 17982279 (4), 11303953 (4), 17072095 (4) (see all 99 )
gf 120918
88.6
129
10098736 (4), 17936633 (3), 14569063 (3), 9864431 (2) (see all 72 )
tariquidar
87.5
120
19910428 (5), 10510451 (5), 15457126 (4), 11212278 (4) (see all 45 )
vincristine
87.5
372
9719458 (5), 8551799 (5), 15087026 (4), 15371983 (4) (see all 99 )
(125i)iodoarylazidoprazosin
84.6
60
16729976 (5), 16505485 (3), 9380680 (3), 10350482 (2) (see all 25 )
10/40 PharmGKB related drug/compound annotations for ABCB1 gene (see all 40 ) About this table Search CenterWatch for drugs/clinical trials and news about ABCB1 / MDR1
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Transcriptsfor ABCB1 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section 4 fRNAdb Secondary structures: REFSEQ mRNAs for ABCB1 gene: NM_000927.4 Unigene Clusters for ABCB1:
ATP-binding cassette, sub-family B (MDR/TAP), member 1 Hs.489033 [show with all ESTs ] , Hs.737655 [show with all ESTs ] Unigene Representative Sequences: BC130424 , DA234625 11 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000265724 (uc011khc.2 uc003uiz.2 ) ENST00000488737 ENST00000491360 ENST00000415096 ENST00000475929 ENST00000496821 ENST00000483831 ENST00000482527 ENST00000416177 (uc003uja.2 uc010lei.2 ) ENST00000476862 ENST00000543898 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCB1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCB1OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ABCB1 (NM_000927 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCB1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABCB1
Additional cDNA sequence: AF345623.1 AF345624.1 AF345625.1 AY425006.1 AY425007.1 AY452673.1
5 DOTS entries : DT.112315 DT.102836253
DT.121113039 DT.121113006 DT.92419387 24/71 AceView cDNA sequences (see all 71 ):
AI476464 AW119201 AY425005 AA455911 AA887211 AY425006 BM052878 BX509020 BI964198 CD672146 BI964218 NM_000927 BX645450 AA459824 CR595422 CB164676 AA456377 AA135958 BI964115 BP348942 AI916259 BX474069 BG105127 AA776371 GeneLoc Exon Structure
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Expression for ABCB1 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section ABCB1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: AAGAAATCTAAbout this image ABCB1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
See ABCB1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ABCB1 SOURCE GeneReport for Unigene clusters: Hs.489033 Hs.737655 UniProtKB/Swiss-Prot: MDR1_HUMAN, P08183 Tissue specificity : Expressed in liver, kidney, small intestine and brain SABiosciences Expression via Pathway-Focused PCR Arrays including ABCB1 (see all 11 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCB1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat ABCB1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABCB1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABCB1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB1
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Orthologsfor ABCB1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for ABCB1 gene from 8/33 species (see all 33 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
ABCB11
ATP-binding cassette, sub-family B (MDR/TAP), member 1 less
71.75(n) 73.03(a)
 
395712 NM_204894.1 NP_990225.1
lizard (Anolis carolinensis)
Reptilia
--ABCB116
--
70(a) 51(a)
1 ↔ manypossible ortholog
6(19286963-19334220) 1(245243036-245267304)
tropical clawed frog (Xenopus tropicalis)
Amphibia
MGC762162
hypothetical protein MGC76216
72.53(n)
 
BC063924.1
zebrafish (Danio rerio)
Actinopterygii
570700592
--
73.44(n)
 
57070059
fruit fly (Drosophila melanogaster)
Insecta
CG102263 Mdr501
multidrug transporter3 Multi drug resistance 501
65(a) (best of 4)3 50.94(n) 1 44.72(a) 1
 
65A103 36582 1 NM_079016.3 1 NP_523740.3 1
worm (Caenorhabditis elegans)
Secernentea
pgp-13 pgp-91
multidrug resistance protein3 Protein PGP-91
45(a) (best of 11)3 51.96(n) 1 46.92(a) 1
 
IV(12592000-12599340)3 180165 1 NM_075086.2 1 NP_507487.1 1
thale cress (Arabidopsis thaliana)
eudicotyledons
PGP96 MDR36 (see all 21 )
ABC transporter B family member 3(see all 21 )
41(a) 41(a) (see all 21 )
many ↔ manymany ↔ many(see all 21 )
4(10022205-10027415) 4(780734-785329)
rice (Oryza sativa)
Liliopsida
Os.201202
Oryza sativa (japonica cultivar-group) cDNA clone001-012-H08, full insert sequence less
72.39(n)
 
NM_183599.1
ENSEMBL Gene Tree for ABCB1 (if available)TreeFam Gene Tree for ABCB1 (if available)
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Paralogsfor ABCB1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ABCB1 gene ABCB4 2 ABCB11 2 ABCB5 2 17 SIMAP similar genes for ABCB1 using alignment to 16 protein entries: MDR1_HUMAN (see all proteins ):ABCB4 ABCB5 MDR1 TAP1 ABCB11 NG-TRA LOC402251 ABCB6 ABCB9 ABCB10 TAP2-G TAP2 CFTR DKFZp434I2115 ABCB8 ABCB7 ABCG2
ABCB1 for paralogs About GeneDecksing
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Genomic Variantsfor ABCB1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section UniProtKB/Swiss-Prot: MDR1_HUMAN, P08183 Polymorphism : Genetic variation in ABCB1 may play a role in patients who do not respond to drug treatment
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 7 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for ABCB1 (87132948 - 87342611 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 6 variations for ABCB1 6 CNVs : 64878 82071 94660 94662 62688 94661 Human Gene Mutation Database (HGMD) : ABCB1 SABiosciences Cancer Mutation PCR Assays
2 SABiosciences qBiomarker Copy Number PCR Arrays containing ABCB1 :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABCB1
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Disorders
/ Diseasesfor ABCB1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
ABCB1 for disorders About GeneDecksing OMIM gene information: 171050 OMIM information: 141400 605635 OMIM disorders : 612244 UniProtKB/Swiss-Prot: MDR1_HUMAN, P08183
Genetic variations in ABCB1 are associated with susceptibility to inflammatory bowel disease type 13 (IBD13) [MIM:612244]. Inflammatory bowel disease is characterized by a chronic relapsing intestinal inflammation. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may involve any part of the gastrointestinal tract, but most frequently 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. Crohn disease and ulcerative colitis are commonly classified as autoimmune diseases 20/258 diseases for ABCB1 (see all 258 ): About MalaCards 5-fluorouracil toxicity b-cell non-hodgkin lymphoma colchicine resistance attention deficit hyperactivity disorder non-hodgkin lymphoma soft tissue sarcoma paralytic ileus dna topoisomerase ii pervasive developmental disorder cerebral amyloid angiopathy fibrous histiocytoma dna topoisomerase i inflammatory bowel disease 13 graft versus host disease sclerosing cholangitis non-small cell lung carcinoma inflammatory bowel disease postural hypotension temporal lobe epilepsy malignant fibrous histiocytoma 8 diseases from the University of Copenhagen DISEASES database for ABCB1 :Leukemia Breast cancer Lung cancer Ovarian cancer Colorectal cancer Carcinoma Lymphoma Hepatocellular carcinoma 10/89 Novoseek disease relationships for ABCB1 gene (see all 89 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
cancer
75.3
928
19369960 (4), 9476146 (4), 17290610 (4), 11245443 (4) (see all 99 )
leukemia
75.2
389
9439046 (4), 14642128 (4), 1859877 (3), 9594630 (3) (see all 99 )
tumors
72.3
1527
17895794 (6), 9815963 (6), 1359152 (6), 18300948 (5) (see all 99 )
breast cancer
70.3
601
8679460 (7), 10092063 (6), 16200770 (4), 8068207 (4) (see all 99 )
colchicine resistance
69.4
8
11284688 (1), 1968359 (1), 8599208 (1), 15049699 (1) (see all 5 )
aml adult
68
26
19291917 (3), 10419897 (3), 10374270 (2), 17038891 (2) (see all 14 )
acute leukemia
67.8
134
8477061 (6), 16086884 (5), 15512810 (4), 17538395 (4) (see all 73 )
colon carcinoma
65.2
92
12894558 (3), 8207045 (3), 7476894 (3), 8103760 (3) (see all 53 )
ovarian carcinoma
60
67
10767994 (5), 10537344 (4), 7799045 (3), 9639738 (3) (see all 35 )
secondary aml
58.2
11
1283551 (1), 8075575 (1), 9129038 (1), 8628017 (1) (see all 11 )
Genetic Association Database (GAD): ABCB1 Human Genome Epidemiology (HuGE) Navigator: ABCB1 (740 documents) Export disorders for ABCB1 gene to outside databases
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Publicationsfor ABCB1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for ABCB1 gene, integrated from 9 sources (see all 4673 ): (articles sorted by number of sources associating them with ABCB1) Utopia : connect your pdf to the dynamic world of online information
MDR1 Ala893 polymorphism is associated with inflammatory bowel disease. (PubMed id 14610718) 1 , 2 , 4 Brant S.R....Cho J.H. (2003) Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects. (PubMed id 11240981) 1 , 2 , 4 Cascorbi I.... Roots I. (2001) Modulation of multidrug resistance P-glycoprotein 1 (ABCB1) expression in human heart by hereditary polymorphisms. (PubMed id 15247630) 1 , 4, 9 Meissner K....Kroemer H.K. (2004) CYP2C9, CYP2C19, ABCB1 (MDR1) genetic polymorphisms and phenytoin metabolism in a Black Beninese population. (PubMed id 16220110) 1 , 4, 9 Allabi A.C....Horsmans Y. (2005) The effect of CYP3A5 and MDR1 polymorphic expression on cyclosporine oral disposition in renal transplant patients. (PubMed id 12817518) 1 , 4, 9 Yates C.R....Meibohm B. (2003) Pharmacogenetic profiling across the irinotecan pathway in Asian patients with cancer. (PubMed id 15801936) 1 , 4, 9 Zhou Q....Chowbay B. (2005) Sirolimus and tacrolimus trough concentrations and dose requirements after kidney transplantation in relation to CYP3A5 and MDR1 polymorphisms and steroids. (PubMed id 16249748) 1 , 4, 9 Mourad M....Haufroid V. (2005) Influence of functional polymorphisms of the MDR1 gene on vincristine pharmacokinetics in childhood acute lymphoblastic leukemia. (PubMed id 15371983) 1 , 4, 9 Plasschaert S.L....de Bont E.S. (2004) Association of the multidrug resistance-1 gene single-nucleotide polymorphisms with the tacrolimus dose requirements in renal transplant recipients. (PubMed id 12819250) 1 , 4, 9 Anglicheau D....Thervet E. (2003) Effects of ABCB1 (multidrug resistance transporter) gene mutations on disposition and central nervous effects of loperamide in healthy volunteers. (PubMed id 14583678) 1 , 4, 9 Skarke C....Lotsch J. (2003)
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External Searches for ABCB1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ABCB1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing ABCB1 gene
(According to HUGE )
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Specialized Databases showing ABCB1 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for ABCB1 Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for ABCB1 Genetics and Cytogenetics in Oncology and Haematology NIEHS-SNPs http://egp.gs.washington.edu/data/abcb1/ SHMPD http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCB1 Wikipedia http://en.wikipedia.org/wiki/P-glycoprotein ABCMdb http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P08183
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About This Section Patent Information for ABCB1 gene: Search GeneIP for patents involving ABCB1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ABCB1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
OriGene Antibodies for ABCB1 OriGene shRNA RFP for ABCB1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ABCB1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCB1 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ABCB1 OriGene 3'-UTR Clone for ABCB1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCB1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCB1 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for ABCB1 OriGene Custom Protein Services for ABCB1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCB1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABCB1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCB1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ABCB1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABCB1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABCB1
Antibodies & Assays for ABCB1  
Tocris compounds for ABCB1
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB1
ThermoFisher Antibodies for ABCB1
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABCB1
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