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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
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
  • FUT4-, FUT6- or FUT8-mediated multidrug resistance (MDR) in hepatocellular carcinoma is associated with the activation of the PI3K/Akt pathway and the expression of ABCC1
  • 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