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FLASH GENE
Symbol EFHD1 contributors: mct - updated : 30-05-2016
HGNC name EF hand domain containing 1
HGNC id 29556
Location 2q37.1      Physical location : 233.470.766 - 233.547.490
Synonym name
  • mitocalcin
  • Swiprosin-2
    • Synonym symbol(s) PP3051, FLJ13612, MST133, MSTP133, SWS2
    DNA
    TYPE functioning gene
    STRUCTURE 76.72 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1607 - 143 - 2002 12270117
    4 - 2000 - 239 - 2002 12270117
    - - 2081 - 127 - 2002 12270117
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Reproductivefemale systembreastmammary gland  
     female systemovary   
    Respiratorylung    
    Skin/Tegumentskin    
    Urinarykidney    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text placenta, developing brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a disordered region at the N-terminus, followed by
  • two EF-hand calcium-binding domains
  • one VWFC domain.
  • coiled-coil region at C terminal
    • HOMOLOGY
    interspecies homolog to murine Efhd1
    intraspecies homolog to EFHD2
    Homologene
    FAMILY fibrillar collagen family
    CATEGORY adaptor , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • playing a role in the neuronal differentiation and function
  • modulates apoptosis and differentiation of neuronal and muscle precursor cells, probably through an association with mitochondria
  • is part of a cellular response to oxidative stress, which could explain its pro-survival activity in neuronal, muscle and perhaps some malignant tissues
  • EFHD1 and EFHD2 are conserved and very homologous Ca(2+) binding adaptor proteins of the EF hand family, with possibly redundant functions
  • EFHD1 functions as a novel mitochondrial Ca(2+) sensor underlying Ca(2+)-dependent activation of mitoflashes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • PPP1R3C methylation or its combined use of EFHD1 methylation was highly positive in colorectal cancer (CRC) plasma samples, and they might be useful in detection of CRC, especially for early-stage CRCs
    • Therapy target
    ANIMAL & CELL MODELS