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FLASH GENE
Symbol GCM1 contributors: mct/npt/shn - updated : 09-05-2014
HGNC name glial cells missing homolog 1 (Drosophila)
HGNC id 4197
Location 6p12.2      Physical location : 52.991.761 - 53.013.624
Synonym name
  • glial cells missing (Drosophila) homolog a
  • GCM motif protein 1
  • chorion-specific transcription factor GCMa
  • Synonym symbol(s) GCMA, hGCMA
    DNA
    TYPE functioning gene
    STRUCTURE 21.87 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure GATA, Oct-1, bHLH binding sites
    MAPPING cloned Y linked N status confirmed
    Map pter - D6S1714 - D6S1956 - GCM1 - D6S1623 - D6S1960 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2763 - 436 - Chiang (2008)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
    Reproductivefemale systemplacenta    Homo sapiens
    cell lineage expressed in small clusters of chorionic trophoblast cells at the flat chorionic plate stage and at sites of chorioallantoic folding and extension when morphogenesis begins (
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text placenta (
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • DNA-binding protein Gcm-motif at the N terminus
  • HOMOLOGY
    interspecies homolog to Drosophila GCM
    ortholog to Gcm1, Rattus norvegicus
    ortholog to Gcm1, Mouse musculus
    ortholog to GCM1, Pan troglodytes
    Homologene
    FAMILY
  • small transcription factor family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • a critical role in trophoblast differentiation and the signal transduction processes required for normal vascularization of the placenta (
  • placenta-specific transcriptional regulator possibly involved in the expression of multiple placenta-specific genes
  • playing a functional role contributing to constitutively high trophoblast PGF expression and is the first direct evidence of an oxygen-responsive, trophoblast-specific transcription factor contributing to the regulation of PGF expression (Chang 2006)
  • involved with exchange between maternal and fetal blood supplies
  • neural transcription factor
  • regulates expression of syncytin, a placental fusogenic protein mediating trophoblastic fusion (Chuang 2006)
  • involved in the epigenetic regulation of Hes5 transcription by DNA demethylation independently of DNA replication (
  • novel function of GCM1 and HTRA4 in regulation of trophoblast invasion and abnormal HTRA4 expression may contribute to shallow trophoblast invasion in preeclampsia
  • regulates placental cell fusion into the syncytiotrophoblas
  • GCM1 and FZD5 function in an evolutionary conserved positive feedback loop that regulates trophoblast differentiation and sites of chorionic branching morphogenesis
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
  • (A/G)CCCGCAT motif (
  • RNA
    small molecule
    protein
  • Pitx proteins (
  • SKP1 and CUL1 (
  • Histone deacetylase 1,3, 4 and 5 (
  • Ubc9 (
  • dual-specificity phosphatase 23, DUSP23 (
  • SENP1 (
  • NFE2 represses protein acetylation and expression of GCM1 in trophoblast cells, preventing excess syncytiotrophoblast formation and permitting normal placental vascularization and embryonic growth
  • NFE2 modulates JUND binding to the GCM1 promoter via acetylation
  • is revealed to be a target of CREB3L1
  • calcium-regulated pathway whereby GCM1-directed villous trophoblast differentiation is repressed by KCNIP3
  • CASP14 proenzyme is a GCM1-interacting protein that suppresses GCM1 activity and syncytiotrophoblast differentiation
  • cell & other
    REGULATION
    Other
  • by Histone deacetylase 3, HDCA3 (
  • by cyclic AMP, cAMP (
  • ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Genetic ablation of murine GCMa (mGCMa) is embryonic lethal, with mice dying between 9.5 and 10 days postcoitum due to placental failure (
  • mutation of Gcm1 in mice causes a complete block to branching of the chorioallantoic interface, resulting in embryonic mortality by E10 due to the absence of the placental labyrinth (
  • Loss of Gcm1 gene result in the impaired induction of mouse neural stem cells (