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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
Corresponding disease
WHLDMR woolly hair, liver dysfunction, dysmorphic features, and mental retardation
Location 17q23.3      Physical location : 61.822.610 - 61.851.088
Synonym name calumin
Synonym symbol(s) GK001, MSTP041, PSEC0077
DNA
TYPE functioning gene
STRUCTURE 28.48 kb     13 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 3445 55.9 483 - 2007 17204322
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart     Homo sapiens
Digestiveliver     Homo sapiens
 stomach     Homo sapiens
Lymphoid/Immunespleen     Homo sapiens
Nervousbrain     Homo sapiens
Respiratorylung     Homo sapiens
Urinarykidney     Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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