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FLASH GENE
Symbol YWHAG contributors: mct - updated : 22-09-2018
HGNC name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide
HGNC id 12852
Corresponding disease
EIEE53 epileptic encephalopathy, early infantile, 53
Location 7q11.23      Physical location : 75.956.107 - 75.988.342
Synonym name
  • 14-3-3 G protein
  • protein phosphatase 1, regulatory subunit 170
    • Synonym symbol(s) 14.3.3G, 14-3-3GAMMA, PPP1R170
    DNA
    TYPE functioning gene
    STRUCTURE 32.24 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    regionally located . located telomeric to D7S1870
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3779 28.2 247 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   moderately
    Digestiveintestine   moderately
    Lymphoid/Immunelymph node   moderately
    Nervousbrain   highly
     nerve   predominantly
    Reproductivefemale systembreastmammary gland moderately
    Urinarykidney   moderately
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated Other
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to rattus Ywhag (100 pc)
    homolog to murine Ywhag (100 pc)
    Homologene
    FAMILY
  • 14-3-3 family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • acting as an adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathway
  • inhibitor of apoptosis through inhibiting the activation of p38 MAP kinase
  • acting as a multifunctional regulator
  • involved in negative regulation of protein kinase activity
  • acting as a protein kinase C inhibitor
  • oncogenic activities cooperate with loss of TP53 to promote lung tumorigenesis
  • binds strongly to cruciform structures and is crucial for initiating replication
  • role for the YWHAG protein in its binding to local DNA structures which are stabilized by DNA supercoiling
    • CELLULAR PROCESS cell life, differentiation
    cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    text
  • regulation of synaptic plasticity
  • regulation of neuron differentiation
    • PATHWAY
    metabolism
    signaling
  • regulation of signal transduction
    • a component
  • forming a molecular complex with HSPD1 and PRNP in the CNS under physiological conditions and this complex might become disintegrated in the pathologic process of prion diseases
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • p38 MAP kinase
  • binding to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif (which results in the modulation of the activity of the binding partner)
  • interacting with RAF1, SSH1 and CRTC2/TORC2
  • binding to insulin-like growth factor receptor
  • binding to protein kinase C
  • YWHAG binds to the MDM4 domain adjacent to CDKN1A binding suggesting that YWHAG may affect MDM4-mediated CDKN1A proteasomal turnover
  • YWHAG binds to phosphorylated serines 49 and 218 of RGS18
  • YWHAG induction in Class switch DNA recombination (CSR) is enabled by the CXXC1-mediated H3K4me3 enrichment in the promoter, dependent on NFKB1 and sustained by TCF3
  • is a binding partner for TRPM4
  • TP53 interacted with C-terminal domain of YWHAG and induced YWHAG ubiquitination
  • CSNK2A1 interacts at the neuromuscular synapse with RAPSN, RAC1, YWHAG, and DOK7 proteins and phosphorylates the latter two
  • YWHAG directly interacts with the kinase domain of CAMKK2 and the region containing the inhibitory phosphorylation site Thr145 within the N-terminal extension
    • cell & other
    REGULATION
    repressed by negatively regulated by TP53 through binding to its promoter and inhibiting its transcription
    Other phosphorylated by various PKC isozymes
    acetylated
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE53
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    common deletion region of Williams-Beuren syndrome (WBS1)
    tumoral     --over  
    in human lung cancers
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS