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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)
    Physical map
    TNFRSF1A 12p13.2 tumor necrosis factor receptor superfamily, member 1A SCNN1A 12p13.3 sodium channel, nonvoltage-gated 1 alpha LTBR 12p13.31 lymphotoxin beta receptor (TNFR superfamily, member 3) LOC390283 12 hypothetical gene supported by X15940; NM_000993 LOC390284 12 similar to signal recognition particle 14kDa (homologous Alu RNA binding protein); signal recognition particle 14kD (homologous Alu RNA-binding protein); signal recognition particle 14kD (homologous Alu RNA binding protein) TNFRSF7 12p13 tumor necrosis factor receptor superfamily, member 7 TAPBP-R 12p13.31 TAP binding protein related VAMP1 12p13.31-p13.2 vesicle-associated membrane protein 1 (synaptobrevin 1) PKP2P1 12p13 vesicle-associated membrane protein 1 (synaptobrevin 1) MRPL51 12p13.3-p13.1 mitochondrial ribosomal protein L51 CNAP1 12p13.3 chromosome condensation-related SMC-associated protein 1 GAPD 12p13.31 glyceraldehyde-3-phosphate dehydrogenase HOM-TES-103 12p13.3 HOM-TES-103 tumor antigen-like NOL1 12p13.31 nucleolar protein 1, 120kDa CHD4 12p13 chromodomain helicase DNA binding protein 4 GPR92 12p13.32 G protein-coupled receptor 92 ACRBP 12p13.32 acrosin binding protein ING4 12p13.32 inhibitor of growth family, member 4 ZNF384 12p12 zinc finger protein 384 DKFZp547D2210 12p13.31 hypothetical protein DKFZp547D2210 COPS7A 12p13.32 COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) MLF2 12p13 myeloid leukemia factor 2 PTMS 12p13.32 parathymosin LAG3 12p13.32 lymphocyte-activation gene 3 CD4 12p13.31 CD4 antigen (p55) GRCA 12p13 likely ortholog of mouse gene rich cluster, A gene LEPREL2 12q13 leprecan-like 2 protein USP5 12p13 ubiquitin specific protease 5 (isopeptidase T) GNB3 12p13.31 guanine nucleotide binding protein (G protein), beta polypeptide 3 CDCA3 12p13 cell division cycle associated 3 TPI1 12p13.31 triosephosphate isomerase 1 GRCC9 12p13.31 likely ortholog of mouse gene rich cluster, C9 gene B7 12p13 B7 gene ENO2 12p13.31 enolase 2, (gamma, neuronal)
    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