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Aliases for ABCC1 Gene

Aliases for ABCC1 Gene

  • ATP Binding Cassette Subfamily C Member 1 2 3 5
  • ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 1 2 3
  • Leukotriene C(4) Transporter 3 4
  • LTC4 Transporter 3 4
  • MRP1 3 4
  • MRP 3 4
  • ATP-Binding Cassette Transporter Variant ABCC1delta-Ex13&14 3
  • ATP-Binding Cassette Transporter Variant ABCC1delta-Ex25&26 3
  • ATP-Binding Cassette Transporter Variant ABCC1delta-Ex13 3
  • ATP-Binding Cassette Transporter Variant ABCC1delta-Ex25 3
  • ATP-Binding Cassette Sub-Family C Member 1 4
  • Multidrug Resistance-Associated Protein 1 3
  • Multidrug Resistance Associated Protein 1 2
  • ABC29 3
  • ABCC 3
  • GS-X 3

External Ids for ABCC1 Gene

Previous HGNC Symbols for ABCC1 Gene

  • MRP
  • MRP1

Previous GeneCards Identifiers for ABCC1 Gene

  • GC16P015870
  • GC16P015325
  • GC16P016009
  • GC16P015950
  • GC16P016043
  • GC16P015437

Summaries for ABCC1 Gene

Entrez Gene Summary for ABCC1 Gene

  • The 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 full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]

GeneCards Summary for ABCC1 Gene

ABCC1 (ATP Binding Cassette Subfamily C Member 1) is a Protein Coding gene. Diseases associated with ABCC1 include Dubin-Johnson Syndrome and Pseudoxanthoma Elasticum. Among its related pathways are Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics and MicroRNAs in cancer. 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 ABCC3.

UniProtKB/Swiss-Prot for ABCC1 Gene

  • Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o-glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs. Hydrolyzes ATP with low efficiency.

Tocris Summary for ABCC1 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 ABCC1 Gene

Additional gene information for ABCC1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCC1 Gene

Genomics for ABCC1 Gene

GeneHancer (GH) Regulatory Elements for ABCC1 Gene

Promoters and enhancers for ABCC1 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
GH16J015948 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 668.4 +2.7 2700 7.3 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 GTF3C2 SLC30A9 ABCC1 ENSG00000262171 MARF1 GC16P016010
GH16J015947 Enhancer 0.8 ENCODE dbSUPER 650.7 -1.4 -1410 0.5 SMARCA5 BCOR CEBPB ZMYM3 ZNF644 ZNF2 SP1 ZNF664 RCOR2 CEBPA ABCC1 RPL15P20
GH16J015897 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 23.1 -50.0 -49968 4.5 HDGF PKNOX1 FOXA2 MLX SIN3A IRF4 SLC30A9 FOS DEK ZNF263 FOPNL ABCC1 ENSG00000262171 RNU6-213P MYH11 LOC100505915 ENSG00000263065 GC16M015891 RPL15P20
GH16J015970 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 26.8 +24.7 24723 8.2 HDAC1 ETS1 CBX5 ZNF143 FOS ATF7 THAP11 EGR2 HCFC1 NFYC ABCC1 FOPNL NDE1 GC16P016010
GH16J015992 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23.6 +47.3 47337 8.6 FOXA2 MLX ARID4B SIN3A DMAP1 SLC30A9 ZNF766 FOS SP5 ZHX2 ABCC1 RNU6-213P FOPNL NDE1 GC16P016010
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCC1 gene promoter:
  • AP-1
  • c-Fos

Genomic Locations for ABCC1 Gene

Genomic Locations for ABCC1 Gene
chr16:15,949,577-16,143,074
(GRCh38/hg38)
Size:
193,498 bases
Orientation:
Plus strand
chr16:16,043,434-16,236,931
(GRCh37/hg19)
Size:
193,498 bases
Orientation:
Plus strand

Genomic View for ABCC1 Gene

Genes around ABCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCC1 Gene

Proteins for ABCC1 Gene

  • Protein details for ABCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33527-MRP1_HUMAN
    Recommended name:
    Multidrug resistance-associated protein 1
    Protein Accession:
    P33527
    Secondary Accessions:
    • A3RJX2
    • C9JPJ4
    • O14819
    • O43333
    • P78419
    • Q59GI9
    • Q9UQ97
    • Q9UQ99
    • Q9UQA0

    Protein attributes for ABCC1 Gene

    Size:
    1531 amino acids
    Molecular mass:
    171591 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ABCC1 Gene

    Alternative splice isoforms for ABCC1 Gene

neXtProt entry for ABCC1 Gene

Post-translational modifications for ABCC1 Gene

  • Glycosylation at posLast=10061006, posLast=2323, and posLast=1919
  • Ubiquitination at Lys1502, posLast=13691369, Lys1360, posLast=13331333, Lys1322, posLast=908908, Lys891, Lys814, Lys773, Lys636, Lys513, posLast=503503, posLast=488488, Lys315, Lys307, and posLast=303303
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABCC1 Gene

Domains & Families for ABCC1 Gene

Gene Families for ABCC1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ABCC1 Gene

Graphical View of Domain Structure for InterPro Entry

P33527

UniProtKB/Swiss-Prot:

MRP1_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
Family:
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
genes like me logo Genes that share domains with ABCC1: view

Function for ABCC1 Gene

Molecular function for ABCC1 Gene

UniProtKB/Swiss-Prot Function:
Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o-glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs. Hydrolyzes ATP with low efficiency.
GENATLAS Biochemistry:
ATP binding cassettte superfamily,subfamily C (CFTR/MRP),member 1,ubiquitously expressed,with several alternatively spliced forms,also containing a CGG repeat in 5utr

Phenotypes From GWAS Catalog for ABCC1 Gene

Gene Ontology (GO) - Molecular Function for ABCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004012 phospholipid-translocating ATPase activity IMP 17050692
GO:0005215 transporter activity TAS 1360704
GO:0005524 ATP binding IEA --
GO:0008514 organic anion transmembrane transporter activity IBA --
GO:0008559 xenobiotic transmembrane transporting ATPase activity IBA --
genes like me logo Genes that share ontologies with ABCC1: view
genes like me logo Genes that share phenotypes with ABCC1: view

Animal Models for ABCC1 Gene

MGI Knock Outs for ABCC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCC1

Clone Products

  • Addgene plasmids for ABCC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCC1 Gene

Localization for ABCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCC1 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 ABCC1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 2
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005774 vacuolar membrane IBA --
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane IBA,IEA --
GO:0016020 membrane IBA,IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCC1: view

Pathways & Interactions for ABCC1 Gene

genes like me logo Genes that share pathways with ABCC1: view

SIGNOR curated interactions for ABCC1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ABCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006691 leukotriene metabolic process TAS --
GO:0006855 drug transmembrane transport IBA --
GO:0009235 cobalamin metabolic process TAS --
GO:0015889 cobalamin transport IEA --
GO:0034775 glutathione transmembrane transport IBA --
genes like me logo Genes that share ontologies with ABCC1: view

Drugs & Compounds for ABCC1 Gene

(144) Drugs for ABCC1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxorubicin Approved, Investigational Pharma Transporter, substrate, inhibitor Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1828
Irinotecan Approved, Investigational Pharma Transporter, substrate Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1181
Methotrexate Approved Pharma Transporter, substrate, inhibitor Folate antagonist,inhibits DFHR 1603
Ritonavir Approved, Investigational Pharma Transporter, inhibitor, inducer HIV protease inhibitor 897
Sulfinpyrazone Approved Pharma modulator, Target, Transporter, inhibitor 0

(47) Additional Compounds for ABCC1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4'-Hydroxydiclofenac
  • (O-(2,6-dichloro-4-hydroxyanilino)Phenyl)acetic acid
  • 4'-Hydroxy diclofenac
  • 4'-OH DCF
  • (O-(2,6-dichloro-4-hydroxyanilino)Phenyl)acetate
  • {2-[(2,6-dichloro-4-hydroxyphenyl)amino]phenyl}acetic acid
64118-84-9
O-Desmethylverapamil (D-702)

(3) Tocris Compounds for ABCC1 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

(9) ApexBio Compounds for ABCC1 Gene

Compound Action Cas Number
CP 100356 hydrochloride 142715-48-8
Dofequidar 129716-58-1
Dofequidar fumarate MDR reversal agent 153653-30-6
Fumitremorgin C 118974-02-0
KS 176 1253452-78-6
Reversan 313397-13-6
Tariquidar methanesulfonate, hydrate P-glycoprotein inhibitor, potent and selective 625375-83-9
Vinblastine sulfate Anti-mitotic agent 143-67-9
Zosuquidar MDR modulator 167354-41-8
genes like me logo Genes that share compounds with ABCC1: view

Drug Products

Transcripts for ABCC1 Gene

mRNA/cDNA for ABCC1 Gene

Unigene Clusters for ABCC1 Gene

ATP-binding cassette, sub-family C (CFTR/MRP), member 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for ABCC1

Alternative Splicing Database (ASD) splice patterns (SP) for ABCC1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^
SP1: - - -
SP2: - -
SP3:
SP4:

ExUns: 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ABCC1 Gene

GeneLoc Exon Structure for
ABCC1
ECgene alternative splicing isoforms for
ABCC1

Expression for ABCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABCC1 Gene

This gene is overexpressed in Breast (29.1) and Nasal epithelium (28.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCC1 Gene



Protein tissue co-expression partners for ABCC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABCC1 Gene:

ABCC1

SOURCE GeneReport for Unigene cluster for ABCC1 Gene:

Hs.391464

mRNA Expression by UniProt/SwissProt for ABCC1 Gene:

P33527-MRP1_HUMAN
Tissue specificity: Lung, testis and peripheral blood mononuclear cells.

Evidence on tissue expression from TISSUES for ABCC1 Gene

  • Liver(4.5)
  • Nervous system(4.5)
  • Blood(2.6)
  • Lung(2.6)
  • Intestine(2.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with ABCC1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCC1 Gene

Orthologs for ABCC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCC1 34 33
  • 98.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRP1 34
  • 91 (a)
OneToOne
ABCC1 33
  • 88.63 (n)
cow
(Bos Taurus)
Mammalia ABCC1 34 33
  • 88.78 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCC1 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCC1 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcc1 16 34 33
  • 83.84 (n)
rat
(Rattus norvegicus)
Mammalia Abcc1 33
  • 83.03 (n)
chicken
(Gallus gallus)
Aves ABCC1 34 33
  • 71.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCC1 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3748 33
zebrafish
(Danio rerio)
Actinopterygii ABCC1 34
  • 70 (a)
OneToOne
abcc1 33
  • 67.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6214 35
  • 47 (a)
Sur 35
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea mrp-2 35 33
  • 51.46 (n)
mrp-7 35
  • 40 (a)
mrp-8 34 35
  • 37 (a)
ManyToMany
C18C4.2 35
  • 24 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YCF1 34
  • 40 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MRP5 33
  • 44.74 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3011 33
rice
(Oryza sativa)
Liliopsida Os03g0142800 33
  • 47.21 (n)
Os.5631 33
barley
(Hordeum vulgare)
Liliopsida Hv.4445 33
wheat
(Triticum aestivum)
Liliopsida Ta.28932 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
ManyToMany
Cin.6283 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6283 33
Species where no ortholog for ABCC1 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)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)

Evolution for ABCC1 Gene

ENSEMBL:
Gene Tree for ABCC1 (if available)
TreeFam:
Gene Tree for ABCC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCC1: view image

Paralogs for ABCC1 Gene

Paralogs for ABCC1 Gene

(22) SIMAP similar genes for ABCC1 Gene using alignment to 7 proteins:

  • MRP1_HUMAN
  • G0ZCM3_HUMAN
  • G0ZCM4_HUMAN
  • G0ZCM5_HUMAN
  • G0ZCM6_HUMAN
  • I3L2H9_HUMAN
  • I3L4X2_HUMAN
genes like me logo Genes that share paralogs with ABCC1: view

Variants for ABCC1 Gene

Sequence variations from dbSNP and Humsavar for ABCC1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs11075295 uncertain-significance, Familial cancer of breast 16,083,830(+) G/A intron_variant
rs11866794 uncertain-significance, Familial cancer of breast 16,075,717(+) G/A/C intron_variant
rs35623 uncertain-significance, Familial cancer of breast 16,075,608(+) G/T intron_variant
rs35625 uncertain-significance, Familial cancer of breast 16,075,709(+) C/T intron_variant
rs35626 uncertain-significance, Familial cancer of breast 16,076,758(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABCC1 Gene

Variant ID Type Subtype PubMed ID
dgv4924n54 CNV gain 21841781
esv1033070 CNV insertion 17803354
esv2399145 CNV deletion 18987734
esv2661498 CNV deletion 23128226
esv2667672 CNV deletion 23128226
esv2674034 CNV deletion 23128226
esv2714015 CNV deletion 23290073
esv2714022 CNV deletion 23290073
esv2714023 CNV deletion 23290073
esv2714024 CNV deletion 23290073
esv2714025 CNV deletion 23290073
esv2714026 CNV deletion 23290073
esv2714027 CNV deletion 23290073
esv2758633 CNV gain+loss 17122850
esv2763133 CNV loss 21179565
esv28545 CNV loss 19812545
esv34006 CNV loss 18971310
esv3553169 CNV deletion 23714750
esv3553170 CNV deletion 23714750
esv3638041 CNV gain 21293372
esv3638047 CNV gain 21293372
esv3638048 CNV gain 21293372
esv3638049 CNV loss 21293372
esv3638050 CNV gain 21293372
esv3638051 CNV gain 21293372
esv3638052 CNV gain 21293372
nsv1047898 CNV loss 25217958
nsv1049647 CNV gain+loss 25217958
nsv1053451 CNV gain 25217958
nsv1070754 CNV deletion 25765185
nsv1121517 CNV deletion 24896259
nsv1125134 CNV deletion 24896259
nsv1134504 CNV deletion 24896259
nsv1745 CNV insertion 18451855
nsv435664 CNV deletion 17901297
nsv442392 CNV loss 18776908
nsv457428 CNV gain 19166990
nsv457436 CNV gain 19166990
nsv457437 CNV gain 19166990
nsv469785 CNV gain+loss 16826518
nsv472914 CNV novel sequence insertion 20440878
nsv571546 CNV loss 21841781
nsv571547 CNV gain 21841781
nsv833149 CNV loss 17160897

Variation tolerance for ABCC1 Gene

Residual Variation Intolerance Score: 2.89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.96; 59.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCC1 Gene

Human Gene Mutation Database (HGMD)
ABCC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCC1 Gene

Disorders for ABCC1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for ABCC1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dubin-johnson syndrome
  • djs
pseudoxanthoma elasticum
  • pxe
colchicine resistance
  • colchicine sensitivity; clcs
microsporidiosis
  • infection by microspora
uterine sarcoma
  • uterine corpus sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search ABCC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCC1

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 ABCC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCC1 Gene

Publications for ABCC1 Gene

  1. 5-lipoxygenase pharmacogenetics in asthma: overlap with Cys-leukotriene receptor antagonist loci. (PMID: 19214143) Tantisira KG … Weiss ST (Pharmacogenetics and genomics 2009) 3 22 44 58
  2. Methotrexate (MTX) pathway gene polymorphisms and their effects on MTX toxicity in Caucasian and African American patients with rheumatoid arthritis. (PMID: 18381794) Ranganathan P … McLeod HL (The Journal of rheumatology 2008) 3 22 44 58
  3. Pharmacogenetic assessment of toxicity and outcome after platinum plus taxane chemotherapy in ovarian cancer: the Scottish Randomised Trial in Ovarian Cancer. (PMID: 17925548) Marsh S … Brown R (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2007) 3 22 44 58
  4. Influence of ABCB1, ABCC1, ABCC2, and ABCG2 haplotypes on the cellular exposure of nelfinavir in vivo. (PMID: 16041239) Colombo S … Swiss HIV Cohort Study (Pharmacogenetics and genomics 2005) 3 22 44 58
  5. NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity. (PMID: 16330681) Wojnowski L … Hasenfuss G (Circulation 2005) 3 22 44 58

Products for ABCC1 Gene

  • Addgene plasmids for ABCC1

Sources for ABCC1 Gene

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