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FLASH GENE
Symbol JAZF1 contributors: mct/npt - updated : 22-04-2009
HGNC name JAZF zinc finger 1
HGNC id 28917
Location 7p15.2      Physical location : 27.870.195 - 28.220.437
Synonym name
  • juxtaposed with another zinc finger gene 1
  • TAK1-interacting protein 27
  • zinc finger protein 802
  • Synonym symbol(s) TIP27, ZNF802, DKFZp761K2222
    DNA
    TYPE functioning gene
    STRUCTURE 350.25 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D7S782 - D7S2556 - JAZF1 - D7S1569 - D7S1987 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 3210 27 243 - Micci (2006)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly
    Reproductivefemale systemuterus   
     male systemtestis  highly
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three C2H2-type zinc fingers
  • HOMOLOGY
    interspecies ortholog to murine AI591476
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • functioning as a NR2C2-selective repressor
  • involved in regulation of transcription, DNA-dependent
  • having a key function in the metabolism of growth (Johansson 2009)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • interacts specifically with TAK1 and not with several other nuclear receptors
  • transcriptional repressor of NR2C2, which results in low IGF1 serum concentrations, perinatal and early postnatal hypoglycemia and growth retardation (Johansson 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    with JJAZ1 t(7;17) (p15;q21) in endometrial stromal sarcoma
    tumoral fusion      
    a fusion of the 5' end of JAZF1 with the 3' end of PHF1 in endometrial stromal sarcomas without JAZF1/JJAZ1 fusion (Micci 2006)
    tumoral fusion      
    JAZF1/PHF1 fusion in a mesenchymal tumor of nonendometrial stromal origin
    Susceptibility
  • to prostate carcinoma
  • to SLE systemic lupus erythematosus
  • Variant & Polymorphism SNP , other
  • increasing the risk of prostate cancer
  • locus (rs849142) associated to risk of SLE (Gateva 2009)
  • Candidate gene best candidate genes, identified so far, influencing the variation in human height (Johansson 2009)
    Marker
    Therapy target
    ANIMAL & CELL MODELS