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FLASH GENE
Symbol YWHAH contributors: mct/npt - updated : 08-10-2011
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
    Physical map
    FLJ20618 22q12.2 hypothetical protein FLJ20618 LOC388893 22 LOC388893 SMTN 22q12.2 smoothelin SELM 22q12.2 selenoprotein SelM PIB5PA 22q12.2 phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A PLA2G3 22q11.2-q13.2 phospholipase A2, group III FLJ38628 22q12.3 hypothetical protein FLJ38628 AGTRL2 22q12.2 angiotensin II receptor-like 2 LIMK2 22q12.2 LIM domain kinase 2 PPP1R14BP1 22q12 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 1 MGC17330 22q12.2 HGFL gene ZNF278 22q12.2 zinc finger protein 278 MGC15705 22q12.3 hypothetical protein MGC15705 FLJ20464 22q12.3 hypothetical protein FLJ20464 DRG1 22q12.2 developmentally regulated GTP binding protein 1 EIF4ENIF1 22q11.2 eukaryotic translation initiation factor 4E nuclear import factor 1 KIAA0542 22q12.2 KIAA0542 gene product PISD 22q12.2 phosphatidylserine decarboxylase LOC388894 22 similar to Phosphatidylserine decarboxylase proenzyme MGC50372 22q12.3 hypothetical protein MGC50372 FLJ23059 22q12.3 hypothetical protein FLJ23059 KIAA0645 22q12.2-q12.3 hypothetical protein FLJ23059 HSN44A4A 22q12.1-q12.3 hypothetical protein HSN44A4A YWHAH 22q12.2 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide LOC391329 22 similar to ribosomal protein S17 SLC5A1 22q12.3 solute carrier family 5 (sodium/glucose cotransporter), member 1 ADTB1L1 22q12.3 adaptin, beta 1-like 1 ADTB1L2 22q12.3 adaptin, beta 1-like 2 LOC150297 22q12.3 hypothetical protein LOC150297 RFPL2 22q12.3 ret finger protein-like 2 SLC5A4 22q12.1-q12.3 solute carrier family 5 (low affinity glucose cotransporter), member 4 LOC391330 22 similar to immunoglobulin lambda light chain VLJ region RFPL3 22q12.2 ret finger protein-like 3 RFPL3S 22q12.3 ret finger protein-like 3 antisense HSPC117 22q12 hypothetical protein HSPC117 BPIL2 22q12.3 bactericidal/permeability-increasing protein-like 2 FBXO7 22q12-q13 F-box only protein 7 SYN3 22q12.3 synapsin III TIMP3 22q12.13 tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1807 - 881 - 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
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemuterus  highly
     female systemplacenta  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    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     intracellular
    intracellular,cytoplasm
    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
  • 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
  • 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
    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