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FLASH GENE
Symbol ABCC1 contributors: mct/npt/pgu - updated : 28-06-2010
HGNC name ATP-binding cassette, sub-family C (CFTR/MRP), member 1
HGNC id 51
Location 16p13.11      Physical location : 16.043.433 - 16.236.928
Synonym name
  • multidrug resistance associated protein 1
  • leukotriene C(4) transporter
  • Synonym symbol(s) MRP, MRP1, MOAT, ABC29, GS-X, MRP-1, DKFZp781G125, DKFZp686N04233
    DNA
    TYPE functioning gene
    STRUCTURE 193.50 kb     31 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure also containing a CGG repeat in 5'utr
    MAPPING cloned Y linked N status confirmed
    Map pter - D16S3114 - D16S3069 - D16S3062 - D16S3103 - ABCC1 - D16S405 - cen
    Authors Gene Map (98)
    Physical map
    LOC390675 16 similar to TATA element modulatory factor 1 ERCC4 16p13.13 excision repair cross-complementing rodent repair deficiency, complementation group 4 MRTF-B 16p13.13 myocardin-related transcription factor B CGI-148P 16p13 CGI-148 protein pseudogene LOC388214 16 LOC388214 PARN 16p13 poly(A)-specific ribonuclease (deadenylation nuclease) BFAR 16p13.2 bifunctional apoptosis regulator PLA2G10 16p13.1-p12 phospholipase A2, group X PKD1P3 16p13.3 phospholipase A2, group X NPIP 16q13.1 nuclear pore complex interacting protein LOC123803 RRN3 16p12 RNA polymerase I transcription factor RRN3 PKD1P6 16p13.3 RNA polymerase I transcription factor RRN3 LOC388215 16 similar to hypothetical protein LOC339047 FLJ39599 16p13.13 hypothetical protein FLJ39599 BC008967 16p13.13 hypothetical gene BC008967 LOC388216 16 LOC388216 LKAP 16p13.13 limkain b1 NDE1 16p13.11 nudE nuclear distribution gene E homolog 1 (A. nidulans) MYH11 16p13.12 myosin, heavy polypeptide 11, smooth muscle FLJ31153 16p13.13-p13.12 hypothetical protein FLJ31153 LOC390676 16 similar to 60S ribosomal protein L15 ABCC1 16p13.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 ABCC6 16p13.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 LOC339041 16p13.12 hypothetical LOC339041 PKD1P1 16p13.3 hypothetical LOC339041 PKD1P2 16p13.3 hypothetical LOC339041 LOC390677 16 similar to hypothetical protein FLJ21415 XYLT1 16p13.1-p12 xylosyltransferase I LOC146110 16p13.12 similar to 60S ribosomal protein L7 LOC390678 16 similar to Group X secretory phospholipase A2 precursor (Phosphatidylcholine 2-acylhydrolase GX) (GX sPLA2) (sPLA2-X) LOC339047 16p13.12 hypothetical protein LOC339047 PKD1P4 16p13.3 hypothetical protein LOC339047 PKD1P5 16p13.3 hypothetical protein LOC339047 LOC283820 16p13.12 hypothetical protein LOC283820 PM5 16p13.12 hypothetical protein LOC283820
    RNA
    TRANSCRIPTS type messenger
    text with several form and alternatively spliced transcripts
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 - 6564 - 1531 - 2008 18088596
    30 splicing 6387 - 1472 - 2008 18088596
    lack exon 17
    30 splicing 6396 - 1475 - 2008 18088596
    lack exon 18
    29 splicing 6219 - 1416 - 2008 18088596
    lack exons 17-18
    30 splicing 6369 - 1466 - 2008 18088596
    lack exon 30
    - splicing 5801 - 1489 - 2008 18088596
    lack exon 5
    - splicing 5780 - 1482 - 2008 18088596
    lack exon 13
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
     pharynx   highly
    Reproductivemale systemtestis   
    Respiratorylung    
     respiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two cytosolic nucleotide-binding domains (NBD1 and NBD2), dimerizing to form composite nucleotide binding sites (NBSs) each containing Walker A and B motifs from one domain and the ABC "C" signature from the other
  • 17 putative transmembrane (TM) helices forming three membrane-spanning domains (de Foresta 2010), are linked by extracellular and cytoplasmic loops (multiple roles for cytoplasmic loops 5 in the membrane expression and function of ABCC1)
  • two ATP binding (nucleotide binding fold)
  • one in the N terminus not found in most other ABC transporter
  • two membrane spanning domains (MSDs) each
  • a nucleotide binding domain
  • a third MSD with five transmembrane (TM) helices, whereas MSD2 and MSD3 each contain six TM helices
  • proline residues in the core cytoplasmic
  • transmembrane regions important for transport function, substrate specificity, and nucleotide interactions
  • secondary structure
  • broadly conserved helix-sheet-sheet-helix-helix structure
  • alpha-helices extending from TM9 and TM10 into the cytoplasm are linked by a stretch of amino acids (AAs 507
  • 521) that comprise the CL5 interface with NBD2 and also contain the so-called
    coupling helix,
    which is presumably initiated by Gly511
    HOMOLOGY
    interspecies homolog to murine Abcc1a
    Homologene
    FAMILY
  • ABC transporter superfamily
  • ABCC family
  • conjugate transporter subfamily
  • CATEGORY signaling , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • integral membrane protein
  • localized in cholesterol-enriched lipid rafts, which suggests a role for these lipid rafts and/or cholesterol in ABCC1 function
  • basic FUNCTION
  • ATP-binding cassette transporter that confers resistance to drugs(colchicine doxorubicine) and mediates the transport of organic anions
  • glutathione (GSH) cce protein ()onjugate (GS-x) pump or multispecific anion transporter
  • having specific biologic functions in epidermal lipid reorganization during terminal keratinocyte differentiation
  • playing a role in export of sphingosine-1-phosphate from mast cells
  • may play an important role in smoking-related lung function loss and development of chronic obstructive pulmonary disease (COPD)
  • with P-glycoprotein (ABCB1) and the breast cancer resistance protein (ABCG2), confers resistance to a large number of structurally diverse drugs
  • ability to mediate ATP-dependent CBL transport and having a physiologic role in CBL homeostasis
  • mediates the ATP-dependent efflux of a variety of organic anions derived from both endogenous metabolites and exogenous xenobiotics, many of which are conjugated to glutathione
  • its activity is not correlated with the level of free cholesterol or with localization in cholesterol-dependent lipid rafts
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ABCC1 plays a role in mediating, either directly or indirectly the CR1-mediated ATP release in red blood cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in bronchial epithelium of COPD patients
    tumoral     --over  
    in tumor cells, confers resistance to anticancer drugs and other xenobiotics of remarkable structural diversity, including oxyanions containing arsenic and antimony
    Susceptibility variation in drug responses
    Variant & Polymorphism SNP SNP may account, in part, for inter-individual variations and population differences in drug response
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS