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FLASH GENE
Symbol YWHAH contributors: mct/npt - updated : 27-01-2021
HGNC name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide
HGNC id 12853
Location 22q12.3      Physical location : 32.340.478 - 32.353.589
Synonym name
  • 14-3-3 eta protein
  • protein AS1
  • 14-3-3 eta
  • Synonym symbol(s) YWHA1
    EC.number 1.14.16.2, 4
    DNA
    TYPE functioning gene
    STRUCTURE 13.11 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence
    text structure a 7 bp repeat sequence in its 5' UTR
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1807 - 246 - 2000 10654934
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
    Hearing/Equilibriumearinnercochlea   Homo sapiens
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemuterus  highly
     female systemplacenta  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensorystato-auditory   Homo sapiens
    Epithelialsensoryvisualganglion cell layer  Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell Homo sapiens
    Hearing / Equilibriumhair cell receptor Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • 14-3-3 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • component of the cardiac Na(+) channel acting as a cofactor for the regulation of the cardiac Na(+) current
  • inhibitor of apoptosis through inhibiting the activation of MAPK14
  • functioning as a positive regulator in the glucocorticoid signal pathway by blocking the degradation of glucocorticoid receptor (GR) and inducing an elevation of GR, thus enhancing the transcriptional activity of GR
  • inhibitor of ZBTB17
  • chaperone-like protein present abundantly in neurons, that could bind to parkin and negatively regulate its ubiquitin ligase activity
  • regulator that functionally links parkin and SNCA
  • may be playing a regulatory role in chondrogenic differentiation
  • key regulator in the growth impairment of children with joint inflammatory disease
  • may be likely required for mitotic progression and may be considered as a novel anti-cancer strategy in combination with microtubule inhibitors
  • could be a critical factor in the survival of outer hair cells
  • role of YWHAH overexpression and inefficient oxidative phosphorylation in oncocytoma mitochondrial biogenesis
  • YWHAH chaperone protein promotes antiviral innate immunity via facilitating IFIH1 oligomerization and intracellular redistribution
  • CELLULAR PROCESS cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • HDAC7 directly binds to beta-catenin and forms a complex with YWHAE, YWHAZ, and YWHAH proteins
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • p38 MAP kinase
  • interaction with YWHAB, YWHAE, ATXN1, YWHAZ mediated by AKT1 to modulate the neurotoxicity of SCA1
  • interacting with SCN5A cytoplasmic I interdomain
  • GREM1 interacted with YWHAH (YWHAH binding site for gremlin 1 was located between AAs 61-80 and gremlin 1 binding site for YWHAH was found to be located between AAs 1 to 67)
  • directly regulate CAMK1 when the enzyme is phosphorylated by protein kinase A on either Ser74 or Ser475
  • YWHAH is an essential accessory protein for IFIH1-dependent type I IFN induction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in synovial fluid from patients with joint inflammation
    tumoral   deletion    
    with DEPDC5, C22ORF24, in glioblastomas
    constitutional     --over  
    significantly higher in patients in patients rheumatoid arthritis with radiographically assessed joint damage and in those who had radiographic progressionwith radiographically assessed joint damage and in those who had radiographic progression
    Susceptibility to rs2246704 was associated with BP (bipolar disorder)
    Variant & Polymorphism SNP rs2246704 was associated with bipolar disorder
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • differential expression of YWHAH, YWHAQ throughout brain regions of rats with insulin resistance
  • 14-3-3eta-deficient mice displayed auditory impairment accompanied by cochlear hair cells' degeneration