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FLASH GENE
Symbol ABCC6 contributors: mct/npt/pgu - updated : 07-01-2010
HGNC name ATP-binding cassette, sub-family C (CFTR/MRP), member 6
HGNC id 57
Corresponding disease
AGST angioid streaks
PXE pseudoxanthoma elasticum
Location 16p13.11      Physical location : 16.243.422 - 16.317.328
Synonym name
  • anthracycline resistance associated
  • multidrug resistance protein 6
  • multi-specific organic anion transporter E
  • Synonym symbol(s) ARA, MRP6, ABC34, MOATE, MLP1, EST349056, URG7
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head, opposite orientation
    STRUCTURE 73.91 kb     31 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   HRE
    motif repetitive sequence   ALU
    text structure unequivocally identified endogenous PLAGL1 as able to directly bind to the ABCC6 promoter
    MAPPING cloned Y linked N status confirmed
    Map see PXE
    Physical map
    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 LOC388217 16 hypothetical gene supported by AF168791; NM_001171
    regionally located contigous to ABCC1 in head to head orientation
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 - 5125 - 1503 - -
    2 - 733 - 99 - -
    EXPRESSION
    Rna function mRNA expression is abundant in the liver and kidneys, but it has also been observed in PXE-affected tissues, including the vessel wall
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessels    
    Digestiveintestine    
     liver   highly Homo sapiens
    Endocrinepancreas    
     thyroid    
    Skin/Tegumentskin   lowly
    Urinarykidneytubuleconvoluted tubuleproximal tubulehighly
    Visualeyeretina   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     fibroblast
    Digestiveacinar
    Digestivehepatocyte Homo sapiens
    Endocrinethyroid cell
    Urinarytubular cell
    cell lineage normal hematopoietic precursors
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two tandemly repeated polytopic membrane-spanning domains (MSDs) typical of ABC transporters
  • a third NH(2)-terminal MSD
  • an extracellular N terminus ABC transporter, traffic ATPase with two ATP binding (nucleotide binding fold) including the Walker motifs,
  • five transmembrane (5 TM), 17 membrane spanning helices
  • intracellular C terminus
  • HOMOLOGY
    interspecies homolog to murine Abcc6
    intraspecies homolog to MRP6,MRP1,ABCC6L
    Homologene
    FAMILY
  • ABC transporter superfamily
  • ABCC family
  • conjugate transporter subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • half ABC transporter, traffic ATPase, organic anions amphipatics, involved in cellular detoxification, hepatobiliary and renal excretion of xenobiotics and/or endogenous metabolites
  • may be a determinant of plasma lipoproteins
  • plays an important role in the endocrine cells
  • xenobiotic transporter, that might also be important in cancer drug resistance because of the involvement of PLAG family members in the progression of some types of cancer
  • may have a role in transporting vitamin K or its derivatives from the liver to the periphery, but not confirmed
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • strong and direct target gene of PLAG1 and PLAGL1 (may contribute to shedding some more light on the regular physiological function of these factors, which (when disregulated) have very dissimilar impact on neoplastic transformation and progression of cancer)
  • target gene for transcriptional induction by PLAG1 and PLAGL1
  • cell & other
    REGULATION
    induced by retinoids through the retinoid X receptor
    Other regulated by PLAG family of transcription factors
    the ERK1/2-HNF4A axis has an important role in regulation of the gene
    ASSOCIATED DISORDERS
    corresponding disease(s) PXE , AGST
    Susceptibility to premature coronary artery disease
    Variant & Polymorphism other R1141X mutation, which is frequent, confers a high risk of premature coronary artery disease, isolated
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS