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FLASH GENE
Symbol JMJD1C contributors: mct - updated : 06-01-2016
HGNC name jumonji domain containing 1C
HGNC id 12313
Location 10q21.3      Physical location : 64.926.989 - 65.225.722
Synonym name
  • thyroid hormone receptor interactor 8
  • Synonym symbol(s) TRIP8, FLJ14374, KIAA1380
    DNA
    TYPE like-sequence
    STRUCTURE 298.78 kb     23 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 8786 - 2540 - Wolf, Castermans, Katoh (2007)
  • variant 1 or TRIP8A
  • consists of exons 1, 2 and 3-26
  • 23 - 8415 - 2484 - Wolf, Castermans, Katoh (2009)
  • has putative demethylase activity
  • transcribed from novel exon 1B located 5' to exon 3
  • 25 - 8675 - 2358 - Castermans
  • TRIP8C
  • lacking exons 1, 2 and 3
  • - - 8679 - 2252 - -
    - - 8617 - 2358 - -
    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