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FLASH GENE
Symbol CCDC80 contributors: mct - updated : 20-04-2013
HGNC name coiled-coil domain containing 80
HGNC id 30649
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal signal sequence
  • three repetitive elements with significant similarity to the carboxyl-terminal regions of the predicted proteins from DRS/SRPX/ETX1 and SRPUL genes
  • HOMOLOGY
    interspecies ortholog to rattus Ssg1
    homolog to yeast Yjr061w
    Homologene
    FAMILY
  • sushi-repeat-containing protein superfamily
  • CCDC80 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • single-pass type II membrane protein
  • shuttles from Golgi to the endoplasmic reticulum upon apoptotic stimuli, where it is predicted to facilitate the apoptosis cascade
  • basic FUNCTION
  • may have a unique function in the regulation of body weight and energy metabolism
  • play a role in apoptosis of tumor cells
  • may be playing a role in obesity and secreted, at least in part, from adipocytes
  • required to mediate mannosylphosphate transfer in both the core and outer chain portions of N-linked oligosaccharides
  • required for the full inhibition of T-cell factor-mediated transcriptional activity
  • plays dual roles in adipogenesis by mechanisms that involve at least in part down-regulation of Wnt/beta-catenin signaling and induction of C/EBP and peroxisome proliferator-activated receptor gamma
  • is a novel modulator of glucose and energy homeostasis during diet-induced obesity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NCOA3-targeted tumor suppressor, providing a novel mechanism for NCOA3-dependent inhibition of apoptosis
  • its overexpression resulted in BCLAF1 upregulation
  • is a JAK2-binding partner
  • cell & other
    REGULATION
    Other drastically downregulated during osteoblastic
    differentiation
    BMP activity promotes cell cycle exit and induces CCDC80 expression in an FGF-dependent manner
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in colon and pancreatic cancer cell lines as well as in most colorectal cancer specimens
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • up-regulated in brown adipose tissue of mildly obese bombesin receptor subtype-3 (BRS-3-/-) mice
  • mice lacking Ccdc80 showed increased sensitivity to diet-induced hyperglycemia and glucose intolerance while displaying reduced glucose-stimulated insulin secretion