Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ABCC1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 1)

Written1998-11Franck Viguié
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesMRP
MRP1
multidrug resistance associated protein 1
ATP-binding cassette, sub-family C (CFTR/MRP), member 1
Alias_symbol (synonym)GS-X
Other aliasMRP (multidrug resistance-associated protein)
HGNC (Hugo) ABCC1
LocusID (NCBI) 4363
Atlas_Id 106
Location 16p13.11  [Link to chromosome band 16p13]
Location_base_pair Starts at 16043434 and ends at 16236930 bp from pter ( according to hg19-Feb_2009)  [Mapping ABCC1.png]
Fusion genes
(updated 2016)
ABCC1 (16p13.11) / ABCC1 (16p13.11)ABCC1 (16p13.11) / BRD7 (16q12.1)ABCC1 (16p13.11) / FAM105A (5p15.2)
ABCC1 (16p13.11) / FAM195A (16p13.3)ABCC1 (16p13.11) / LSP1 (11p15.5)ABCC1 (16p13.11) / NFATC2IP (16p11.2)
ABCC1 (16p13.11) / PRKCB (16p12.2)C16orf45 (16p13.11) / ABCC1 (16p13.11)MYO18A (17q11.2) / ABCC1 (16p13.11)
NSMCE1 (16p12.1) / ABCC1 (16p13.11)XPNPEP1 (10q25.1) / ABCC1 (16p13.11)
Note MRP is a gene involved in multidrug resistance, discovered in a multidrug-resistant, P-glycoprotein negative, non small cell lung carcinoma cell line.

DNA/RNA

Description spans at least 200 kb and contains 31 exons
Transcription 7kb mRNA transcript; significant level of variant transcripts due to alternative splicing.

Protein

Description 1531 amino acids, 190 kDa; contains two ATP binding domains and three membrane-spanning helices; member of the ATP-binding cassette proteins (ABC proteins).
Expression expressed at a basal level in a wide variety of normal tissues, including epithelial cells and all hematopoietic cell types, which suggests a function common to most cell types; increased expression in various tumor cell type.
Localisation in normal cells, predominant localisation in the cytoplasm; in tumor cells, predominant in plasma membrane, but also found in endoplasmic reticulum, indicating a probable different function as in normal cells.
Function plasma membrane drug-efflux pump; MRP induces a multidrug resistance phenotype (MDR phenotype); overexpression confers tumor cell resistance to a wide variety of hydrophobic drugs: doxorubicin, daunorubicin, vinblastine, vincristine, colchicine, VP16, Rhodamin 123; glutathione is required for the effective expulsion of the chemotherapeutic agents; the mode of action of MRP is very similar to the one of P-glycoprotein, the main protein responsible for the MDR phenotype; however, MRP does not confer resistance to Taxol or m-AMSA, but it is able to transport metallic oxyanions, glutathione and other glutathione conjugates; inhibitors of organic anion transport, such as probenecid, can block MRP activity.
Homology structural and/or functional homology with other ABC transporter proteins (CFTR, Pgp, MOAT).

Implicated in

Note
  
Entity induced resistance to chemotherapeutic agents
Disease in a wide variety of solid and hematological tumors
Oncogenesis MRP hyperexpression may confer therapeutic resistance in leukemia and solid tumor; however its relative importance, in comparison with other proteins able to induce the MDR phenotype (P-gp, LRP), is not yet clear; hyperexpression is probably linked to transcriptional activation of the gene and/or increased mRNA stability, and not to gene amplification; increased expression of MRP mRNA and protein is a factor of bad prognostic in neuroblastoma, retinoblastoma, and non small cell lung carcinoma. In haematological malignancies, overexpression is frequent in chronic lymphocytic leukemia and prolymphocytic leukemia, occasional in acute myeloid leukemia and rare in acute lymphoid leukemia, lymphoma, multiple myeloma and myeloproliferative disorders.
  

Bibliography

Multidrug resistance-associated protein: a protein distinct from P-glycoprotein involved in cytotoxic drug expulsion.
Barrand MA, Bagrij T, Neo SY
General pharmacology. 1997 ; 28 (5) : 639-645.
PMID 9184795
 
Expression of the multidrug resistance-associated protein (MRP) in acute and chronic leukemias.
Burger H, Nooter K, Zaman GJ, Sonneveld P, van Wingerden KE, Oostrum RG, Stoter G
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1994 ; 8 (6) : 990-997.
PMID 7911548
 
Overexpression of a transporter gene in a multidrug-resistant human lung cancer cell line.
Cole SP, Bhardwaj G, Gerlach JH, Mackie JE, Grant CE, Almquist KC, Stewart AJ, Kurz EU, Duncan AM, Deeley RG
Science (New York, N.Y.). 1992 ; 258 (5088) : 1650-1654.
PMID 1360704
 
Function, evolution and structure of multidrug resistance protein (MRP).
Deeley RG, Cole SP
Seminars in cancer biology. 1997 ; 8 (3) : 193-204.
PMID 9441948
 
The role of multidrug resistance-associated protein (MRP) expression in multidrug resistance.
Kavallaris M
Anti-cancer drugs. 1997 ; 8 (1) : 17-25.
PMID 9147606
 
Multidrug resistance: molecular mechanisms and clinical relevance.
Ling V
Cancer chemotherapy and pharmacology. 1997 ; 40 Suppl : S3-S8.
PMID 9272126
 
The prognostic significance of the expression and function of multidrug resistance transporter proteins in acute myeloid leukemia: studies of the Southwest Oncology Group Leukemia Research Program.
Willman CL
Seminars in hematology. 1997 ; 34 (4 Suppl 5) : 25-33.
PMID 9408958
 
The human multidrug resistance-associated protein MRP is a plasma membrane drug-efflux pump.
Zaman GJ, Flens MJ, van Leusden MR, de Haas M, Mülder HS, Lankelma J, Pinedo HM, Scheper RJ, Baas F, Broxterman HJ
Proceedings of the National Academy of Sciences of the United States of America. 1994 ; 91 (19) : 8822-8826.
PMID 7916458
 

Citation

This paper should be referenced as such :
Viguié, F
ABCC1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 1)
Atlas Genet Cytogenet Oncol Haematol. 1999;3(1):11-12.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MRPID106.html


External links

Nomenclature
HGNC (Hugo)ABCC1   51
Cards
AtlasMRPID106
Entrez_Gene (NCBI)ABCC1  4363  ATP binding cassette subfamily C member 1
AliasesABC29; ABCC; GS-X; MRP; 
MRP1
GeneCards (Weizmann)ABCC1
Ensembl hg19 (Hinxton)ENSG00000103222 [Gene_View]  chr16:16043434-16236930 [Contig_View]  ABCC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000103222 [Gene_View]  chr16:16043434-16236930 [Contig_View]  ABCC1 [Vega]
ICGC DataPortalENSG00000103222
TCGA cBioPortalABCC1
AceView (NCBI)ABCC1
Genatlas (Paris)ABCC1
WikiGenes4363
SOURCE (Princeton)ABCC1
Genetics Home Reference (NIH)ABCC1
Genomic and cartography
GoldenPath hg19 (UCSC)ABCC1  -     chr16:16043434-16236930 +  16p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABCC1  -     16p13.1   [Description]    (hg38-Dec_2013)
EnsemblABCC1 - 16p13.1 [CytoView hg19]  ABCC1 - 16p13.1 [CytoView hg38]
Mapping of homologs : NCBIABCC1 [Mapview hg19]  ABCC1 [Mapview hg38]
OMIM158343   
Gene and transcription
Genbank (Entrez)AB209120 AJ003198 AK311015 BC001636 BC156353
RefSeq transcript (Entrez)NM_004996 NM_019862 NM_019898 NM_019899 NM_019900 NM_019901 NM_019902
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_028268 NT_010393 NT_187607 NW_004929400
Consensus coding sequences : CCDS (NCBI)ABCC1
Cluster EST : UnigeneHs.391464 [ NCBI ]
CGAP (NCI)Hs.391464
Alternative Splicing GalleryENSG00000103222
Gene ExpressionABCC1 [ NCBI-GEO ]   ABCC1 [ EBI - ARRAY_EXPRESS ]   ABCC1 [ SEEK ]   ABCC1 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4363
GTEX Portal (Tissue expression)ABCC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP33527   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP33527  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP33527
Splice isoforms : SwissVarP33527
PhosPhoSitePlusP33527
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC1_TM_dom    ABC_transporter-like    ABC_transporter_CS    ABCC1    Multidrug-R_assoc    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00664    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCC1
DMDM Disease mutations4363
Blocks (Seattle)ABCC1
PDB (SRS)2CBZ    4C3Z   
PDB (PDBSum)2CBZ    4C3Z   
PDB (IMB)2CBZ    4C3Z   
PDB (RSDB)2CBZ    4C3Z   
Structural Biology KnowledgeBase2CBZ    4C3Z   
SCOP (Structural Classification of Proteins)2CBZ    4C3Z   
CATH (Classification of proteins structures)2CBZ    4C3Z   
SuperfamilyP33527
Human Protein AtlasENSG00000103222
Peptide AtlasP33527
HPRD01153
IPIIPI00014985   IPI00008338   IPI00216262   IPI00216263   IPI00216264   IPI00216265   IPI00216266   IPI00216267   IPI00719178   IPI01010659   
Protein Interaction databases
DIP (DOE-UCLA)P33527
IntAct (EBI)P33527
FunCoupENSG00000103222
BioGRIDABCC1
STRING (EMBL)ABCC1
ZODIACABCC1
Ontologies - Pathways
QuickGOP33527
Ontology : AmiGOtransporter activity  ATP binding  plasma membrane  plasma membrane  integral component of plasma membrane  leukotriene metabolic process  transport  cobalamin metabolic process  cobalamin-transporting ATPase activity  cobalamin transport  membrane  basolateral plasma membrane  ATPase activity  vitamin transmembrane transport  response to drug  ATPase activity, coupled to transmembrane movement of substances  anion transmembrane-transporting ATPase activity  transmembrane transport  extracellular exosome  anion transmembrane transport  
Ontology : EGO-EBItransporter activity  ATP binding  plasma membrane  plasma membrane  integral component of plasma membrane  leukotriene metabolic process  transport  cobalamin metabolic process  cobalamin-transporting ATPase activity  cobalamin transport  membrane  basolateral plasma membrane  ATPase activity  vitamin transmembrane transport  response to drug  ATPase activity, coupled to transmembrane movement of substances  anion transmembrane-transporting ATPase activity  transmembrane transport  extracellular exosome  anion transmembrane transport  
Pathways : BIOCARTAMulti-Drug Resistance Factors [Genes]   
Pathways : KEGGABC transporters    Vitamin digestion and absorption    MicroRNAs in cancer   
REACTOMEP33527 [protein]
REACTOME Pathways196741 [pathway]   2142691 [pathway]   382556 [pathway]   
NDEx NetworkABCC1
Atlas of Cancer Signalling NetworkABCC1
Wikipedia pathwaysABCC1
Orthology - Evolution
OrthoDB4363
GeneTree (enSembl)ENSG00000103222
Phylogenetic Trees/Animal Genes : TreeFamABCC1
HOVERGENP33527
HOGENOMP33527
Homologs : HomoloGeneABCC1
Homology/Alignments : Family Browser (UCSC)ABCC1
Gene fusions - Rearrangements
Fusion : MitelmanABCC1/PRKCB [16p13.11/16p12.2]  
Fusion : MitelmanC16orf45/ABCC1 [16p13.11/16p13.11]  [t(16;16)(p13;p13)]  
Fusion: TCGAABCC1 16p13.11 PRKCB 16p12.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCC1
dbVarABCC1
ClinVarABCC1
1000_GenomesABCC1 
Exome Variant ServerABCC1
ExAC (Exome Aggregation Consortium)ABCC1 (select the gene name)
Genetic variants : HAPMAP4363
Genomic Variants (DGV)ABCC1 [DGVbeta]
DECIPHER (Syndromes)16:16043434-16236930  ENSG00000103222
CONAN: Copy Number AnalysisABCC1 
Mutations
ICGC Data PortalABCC1 
TCGA Data PortalABCC1 
Broad Tumor PortalABCC1
OASIS PortalABCC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ABCC1
DgiDB (Drug Gene Interaction Database)ABCC1
DoCM (Curated mutations)ABCC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCC1 (select a term)
intoGenABCC1
NCG5 (London)ABCC1
Cancer3DABCC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM158343   
Orphanet
MedgenABCC1
Genetic Testing Registry ABCC1
NextProtP33527 [Medical]
TSGene4363
GENETestsABCC1
Huge Navigator ABCC1 [HugePedia]
snp3D : Map Gene to Disease4363
BioCentury BCIQABCC1
ClinGenABCC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4363
Chemical/Pharm GKB GenePA244
Clinical trialABCC1
Miscellaneous
canSAR (ICR)ABCC1 (select the gene name)
Probes
Litterature
PubMed289 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCC1
EVEXABCC1
GoPubMedABCC1
iHOPABCC1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Apr 12 11:35:40 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.