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FLASH GENE
Symbol GJC1 contributors: mct - updated : 29-05-2019
HGNC name gap junction protein, gamma 1, 45kDa
HGNC id 4280
Location 17q21.31      Physical location : 42.875.816 - 42.908.179
Synonym name
  • gap junction protein, alpha 7, 45kDa (connexin 45)
  • connexin 45
  • gap junction protein, chi 1, 31.9kDa (connexin 31.9)
  • Synonym symbol(s) CX45, DKFZp686P0738, GJA7, CX31.9, GJA11, GJD3
    DNA
    TYPE functioning gene
    STRUCTURE 32.36 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • a transcription factor zinc finger protein 410 (ZNF410)-binding motif was found to be located at the -82 to -77 nt region within the GJC1 promoter
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text variants 1 and 2 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 7644 - 396 - 2007 17189315
    3 - 7640 - 396 - 2007 17189315
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
     vessel     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac   Homo sapiens
    Nervous     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text embryonic stem cell, placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four putative membrane spanning alpha helices
  • N terminal intracellular domain
  • two extracellular loops
  • a C terminal intracellular domain, Cterminal domain having similarities with other cardiac connexins, and potentially they constitute a master regulatory domain, which contains overlapping molecular partner binding, cis-trans proline isomerization, and phosphorylation sites
  • HOMOLOGY
    Homologene
    FAMILY
  • connexin family
  • delta-type subfamily
  • CATEGORY protooncogene , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,gap
    basic FUNCTION
  • compatible to form functional heterotypic GJ channels
  • GJC1-mediated modulation of precursor cell proliferation relied on ATP and Ca2+ signaling
  • might exert its function in postnatal neurogenesis via gap junction-mediated intercellular communication or via hemichannels
  • critical role for GJC1 in the regulation of endothelial-induced mural cell differentiation
  • critical role of GJC1 in reprogramming and may increase the cell division rate and result in an accelerated kinetics of human induced pluripotent stem cells (hiPSCs) production
  • critical proto-oncoprotein that is essential for the high concentrations of glucose (HG) stimulation of proliferative capacity in liver cancer cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • monomer constituent of the connexon (six subunits), expressed in heart left ventricule, docking with its counterpart in the neighboring cell to form the gap junction channel
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • directly interact with TJP1 and GJA1 in osteoblastic cells
  • interaction between CALM1 and GJC1 in cells is strongly dependent on intracellular Ca2+ concentration and can be blocked by the CALM1 inhibitor
  • absence of CLMP caused a severe reduction of GJA1, GJC1 in smooth muscle cells of the intestine and of GJA1 in the ureter
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    reduced in colorectal carcinomas compared to normal tissue samples, and DNA hypermethylation of the promoter region of GJC1, encoding GJC1, is an important mechanism in silencing gene expression in colorectal cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    could be a potential target for preventing liver cancer in patients with diabetes (PMID: 3007821)
    ANIMAL & CELL MODELS
  • Cx45-deficient embryos that exhibit dysregulated transforming growth factor-beta and lack mural cell development