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FLASH GENE
Symbol JHDM1D contributors: shn - updated : 04-07-2010
HGNC name jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae)
HGNC id 22224
Location 7q34      Physical location : 139.784.547 - 139.876.741
Synonym name
  • histone lysine demethylase JHDM1D
  • jmjC domain-containing histone demethylation protein 1D
  • jumonji C domain containing histone demethylase
  • jumonji C domain-containing histone demethylase 1 homolog D
  • lysine-specific demethylase 7
  • Synonym symbol(s) KIAA1718, KDM7, KDM7A
    EC.number 1.14.11.-
    DNA
    TYPE functioning gene
    STRUCTURE 92.19 kb     20 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen - D7S2468 - D7S2202 - JHDM1D - D7S1824 - D7S2513 - qter
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 9178 110 941 - 2010 20194436
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveintestinesmall intestine  moderately
     liver   moderately
    Lymphoid/Immunespleen   lowly
    Nervousbrainhindbraincerebellum predominantly
    Reproductivemale systemseminal vesicles  moderately
    Respiratorylung   lowly
    Urinarykidney   moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a JmjC domain
  • 1 PHD-type zinc finger
  • a predicted Fe(II)- and a alpha-ketoglutarate (-KG)-binding sites
  • HOMOLOGY
    interspecies ortholog to LOC321248, Danio rerio
    Homologene
    FAMILY
  • JHDM1 histone demethylase family
  • JmjC domain-containing proteins subfamily
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • might contribute to transcriptional regulation of genes in the nervous system
  • might regulate the proliferation or differentiation of neurons and plays an important role in brain development
  • ability to mediate the direct removal of methyl groups from H3K9me2/me1 and H3K27me2/me1
  • co-activator function having important functional roles in neuronal development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    text histone demethylase activity
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
  • regulates transcription and H3K9me2 and H3K27me2 levels of the follistatin gene
  • small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • splicing-blocking antisense morpholino oligonucleotides that targeting Zebrafish KDM7 ortholog lead to a curly tail and marked decrease in size of the tectum with loss of neurons
  • depletion of KDM7 by RNAi in primary cultured mouse neurons also resulted in down-regulation of follistatin mRNA