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FLASH GENE
Symbol ABCC9 contributors: mct - updated : 12-07-2016
HGNC name ATP-binding cassette, sub-family C (CFTR/MRP), member 9
HGNC id 60
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an endoplasmic retention signal
  • an anterograde signal at C terminus
  • three asymetric membrane spanning domains
  • two ABC transmembrane type-1 domains
  • two ABC transporter domains
    • HOMOLOGY
    interspecies homolog to murine Abcc9
    Homologene
    FAMILY
  • ATP binding cassette transporter superfamily
  • C-branch of the transport adenosine triphosphatase superfamily
    • CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • ABC transporter, traffic ATPase
  • drug-binding channel modulating subunit of the extrapancreatic KATP channel
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text KATP channel
    PATHWAY
    metabolism
    signaling
    a component
  • constituent with KIR6.1 (KCNJ8) of an ATP dependent potassium channel in extrapancreatic tissues SUR2A/KCNJ11 and SUR2B/KCNJ8
  • constituting cardiac and vascular smooth muscle type KATP channel
    • INTERACTION
    DNA
    RNA
    small molecule
    protein KIR6.1 (KCNJ8) binding
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMD1O , HCOD
    Susceptibility to precocious myocardial infarction
    Variant & Polymorphism a Val734Ile variant associated with myocardial infarction
    Candidate gene
    Marker
  • potential diagnostic and prognostic markers in triple-negative breast cancer
    • Therapy target
    ANIMAL & CELL MODELS
    ABCC9 -/- mice display enhanced insulin-stimulated glucose uptake in skeletal muscle