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FLASH GENE
Symbol JAZF1 contributors: mct/npt - updated : 22-04-2009
HGNC name JAZF zinc finger 1
HGNC id 28917
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