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FLASH GENE
Symbol ZNF384 contributors: mct/npt - updated : 25-05-2016
HGNC name zinc finger protein 384
HGNC id 11955
Location 12p13.31      Physical location : 6.775.643 - 6.798.676
Synonym name
  • nuclear matrix transcription factor 4
  • trinucleotide repeat (CAG) containing 1
  • Cas-interacting zinc finger protein
  • CF3-ZNF384 fusion protein
  • CAG repeat protein 1
  • expanded repeat domain, CAG/CTG 2
  • Synonym symbol(s) CAGH1, CAGH1A, ERDA2, TNRC1, NMP4, CIZ, NP,
    DNA
    TYPE functioning gene
    STRUCTURE 23.09 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map pter - DXS99 - CD9 - GAPDH - DRPLA - LAG3 - PTMS - GNB3 - PTPN6 - ZNF384 - C1S C1S - C1R C1R - PEX5 - DXS77 - cen
    Authors Gene Map (98)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3286 - 516 - 2006 16510139
    10 - 3141 - 516 - 2006 16510139
    10 - 2989 - 516 - 2006 16510139
    9 - 3069 - 500 - 2006 16510139
    9 - 2941 - 500 - 2006 16510139
    11 - 2903 - 461 - 2006 16510139
    11 - 3251 - 577 - 2006 16510139
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrain    
    Reproductivefemale systemovary  predominantly
     female systemuterus   
     male systemtestis   
    Respiratorylung    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificchondrocyte
    Skeletonosteoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a zinc finger domain
  • conjugated MetalloP
    HOMOLOGY
    Homologene
    FAMILY
  • krueppel C2H2-type zinc-finger protein family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text osteoblast cytoplasm
    basic FUNCTION
  • playing a potential role in the regulation of neurodevelopment or neuroplasticity
  • contributing to the expression of type I collagen and many of the matrix metalloproteinase gene
  • zinc finger transcription factor with nucleocytoplasmic shuttling activity
  • might be a mediator of the negative feedback loop of collagen synthesis
  • is a key regulator of ribosome biogenesis and the UPR, which together play a central role in determining cell viability during endoplasmic reticulum stress
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1
  • interacts with C-propeptides of type I collagen and this association takes place in nuclei
  • binds Zyxin, PCBP1, and vimentin, MMP13
  • PPP1R15A expression is regulated through the activity of the zinc finger transcription factor NMP4 (ZNF384)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation    
    t(12;17) and t(12;22) fuse ZNF384 to RNA-binding proteins TAF15 and EWSR1, while a translocation t(12;19) generates an E2A/ZNF384 fusion, in acute lymphoblastic leukemia
    constitutional     --low  
    loss of ZNF384 resulted in an increase in MYC and PPP1R15A expression that facilitated enhanced ribosome biogenesis and global protein synthesis
    tumoral fusion      
    EP300-ZNF384 fusion transcript, which is a recurrent alteration in B cell acute lymphoblastic leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS