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FLASH GENE
Symbol JMJD1C contributors: mct - updated : 06-01-2016
HGNC name jumonji domain containing 1C
HGNC id 12313
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue  moderately
 stomach   highly
Lymphoid/Immunelymph node   lowly
Nervousbrain     Homo sapiens
Reproductivemale systemtestis    Mus musculus
Respiratoryrespiratory tractlarynx  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticprogenitor cell Homo sapiensFetal
Reproductivespermatogonia Mus musculus
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two bipartite nuclear localization signals (codon 352-368 and 2365-2381),
  • TRI8H1 domain with C2HC4-type zinc finger-like motif(codon 1697-1873)
  • TRI8H2 domain with thyroid hormone receptor beta-binding region (codon 2057-2351) (Katoh 2007)
  • JMJC domain (codon 2387-2486)
  • HOMOLOGY
    interspecies ortholog to murine Jmjd1c
    intraspecies paralog to JMJD1B
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • regulation of transcription, DNA-dependent
  • transcriptional regulator associated with nuclear thyroid hormone receptors
  • histone H3K9 demethylase implicated in the nuclear hormone receptor-based transcriptional regulation (Katoh 2007)
  • contributes to the long-term maintenance of the male germ line
  • is a DNA-damage response (DDR) component, with implications for genome-integrity maintenance, tumorigenesis and cancer treatment
  • demethylates MDC1 to regulate the RNF8 and BRCA1-mediated chromatin response to DNA breaks
  • JMJD1C and RREB1, are involved in histone modification
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • a ligand-dependent interaction with RXR-alpha (RXRA)
  • ligand binding domain of thyroid hormone receptor
  • interacting with AR
  • interacting with POU5F1 (POU5F1-mediated expression of JMJD1C histone demethylase is implicated in the reactivation of silenced genes in undifferentiated ES cells, pancreatic islet, and diffuse-type gastric cancer) (Katoh 2007)
  • bound to RNF8 and MDC1, and demethylated MDC1 at Lys45, thereby promoting MDC1-RNF8 interaction, RNF8-dependent MDC1 ubiquitylation and recruitment of RAP80-BRCA1 to polyubiquitylated MDC1
  • represses neural differentiation of hESCs at least partially by epigenetically sustaining miR-302 expression
  • functions as a coactivator for RUNX1-RUNX1T1 and is required for its transcriptional program
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer
    constitutional germinal mutation      
    contribute to the development of Rett syndrome and intellectual disability
    Susceptibility
    Variant & Polymorphism other
  • heterozygous variants in RREB1, when combined with the 22q11.2 deletion, could affect embryonic development or heart formation in humans
  • Candidate gene for autism
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    potential therapeutic target in leukemia
    ANIMAL & CELL MODELS
  • Jmjd1c-deficient males became infertile due to the progressive reduction of germ cells after 3 mo of age