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FLASH GENE
Symbol CCDC80 contributors: mct - updated : 20-04-2013
HGNC name coiled-coil domain containing 80
HGNC id 30649
Location 3q13.2      Physical location : 112.323.410 - 112.359.977
Genatlas name equarin
Synonym name
  • down-regulated by oncogenes 1
  • steroid sensitive gene 1
  • nuclear envelope protein okuribin
  • Synonym symbol(s) DRO1, SSG1, URB, MGC131805, MGC134851
    DNA
    TYPE functioning gene
    STRUCTURE 36.57 kb     8 Exon(s)
    regulatory sequence Promoter
    text structure
  • NCOA3 represses its promoter
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 4578 108 950 - 2005 15998583
    8 splicing 3981 108 950 - 2005 15998583
    EXPRESSION
    Rna function adipose tissue
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadiposewhite highly Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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