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FLASH GENE
Symbol CCDC47 contributors: mct/npt/pgu - updated : 11-12-2018
HGNC name coiled-coil domain containing 47
HGNC id 24856
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a coiled-coil domain
  • an ER-luminal domain rich in acidic residues
  • a single transmembrane segment
  • and a large cytoplasmic domain
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • resides on the ER
    • basic FUNCTION
  • plays an essential role in ER Ca2+ handling and is also implicated in signaling from the ER, which is closely associated with cell-fate decision
  • high capacity Ca2+ binding protein on the ER, which acts as a sensor of Ca2+ concentration within the ER lumen
  • ER Ca2+ binding protein calumin is associated with CRAC channels and and modulates their activity by decreasing the Ca2+ selectivity of the channel
  • calumin serves likely to maintain the yolk sac integrity through participation in the ERAD activity, contributing to embryonic development
  • is a unique calcium regulating protein that is associated with early onset hypertrophic cardiomyopathy
  • is critical for Ca2+ signaling and normal development
  • is important for the maintenance of Ca2+ homeostasis and signaling in the ER
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • directly associated with CRAC (Ca(2+) release-activated Ca(2+))channels
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WHLDMR
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • calumin knock-out mice exhibit embryonic and neonatal lethality, implying that calumin is an important component of the machinery that controls Ca2+ homeostasis in a variety of tissues
  • in mice, loss of Ccdc47 leads to embryonic lethality