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FLASH GENE
Symbol YWHAE contributors: mct/ - updated : 17/12/2008
HGNC name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
HGNC id 12851
Corresponding disease
DEL17P13D chromosome 17p13 deletion, distal to PAFAH1B1 involving YWHAE.
DUP17P13 chromosome 17p13.3 microduplications
MDS Miller-Dieker lissencephaly syndrome
Location 17p13.3      Physical location : 1.247.835 - 1.303.556
Synonym name
  • 14-3-3 epsilon protein
  • mitochondrial import stimulation factor L subunit
  • protein kinase C inhibitor protein-1
  • Synonym symbol(s) 14-3-3-E, KCIP-1, MDCR, FLJ45465
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 55.72 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    FLJ10581 17p13.3 putative RNA methyltransferase NXN 17p13.3 nucleoredoxin TIMM22 17p13 translocase of inner mitochondrial membrane 22 homolog (yeast) ABR 17p13.3 active BCR-related gene MRPL14P1 17p13.3 active BCR-related gene LOC390753 17 similar to putative protein LOC390754 17 similar to hypothetical class II basic helix-loop-helix protein LOST1 17p13.3 located at seventeen-p-thirteen point three 1 YWHAE 17p13.3 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide CRK 17p13.3 v-crk sarcoma virus CT10 oncogene homolog (avian) MYO1C 17p13.3-p13.2 myosin IC SKIP 17p13 myosin IC PITPN 17p13.3 phosphotidylinositol transfer protein MGC34680 17p13.3 hypothetical protein MGC34680 RILP 17p13.3 hypothetical protein MGC34680 SCARF1 17p13.3 scavenger receptor class F, member 1 PRPF8 17p13.3 PRP8 pre-mRNA processing factor 8 homolog (yeast) LOC388317 17 LOC388317 MGC14376 17p13.3 hypothetical protein MGC14376 LOC388318 17 LOC388318 FLJ33817 17p13.3 hypothetical protein FLJ33817 SERPINF2 17p13 serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 SERPINF1 17p13.3 serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 KIAA1936 17p13.3 KIAA1936 protein RPA1 17p13.3 replication protein A1, 70kDa NGRH2 LOC388319 17 LOC388319 DPH2L1 17p13.3 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1827 29 255 - PMID: 17202468
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
     vessel   predominantly
    Digestiveesophagus   highly
     intestinesmall intestine  moderately
     liver   moderately
     mouthtongue  moderately
    Endocrineparathyroid   moderately
    Nervousbrain   moderately
     nerve   moderately
    Reproductivefemale systemuteruscervix moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Ywhae (98.8pc)
    ortholog to murine Ywhae (99.6pc)
    Homologene
    FAMILY
  • 14-3-3 family
  • CATEGORY adaptor , regulatory , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus,chromatin/chromosome,kinetochore
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • inhibitor of apoptosis through inhibiting the activation of p38 MAP kinase
  • multifunctional regulator required for cytoplasmic dynein function, neuronal migration and brain development
  • implicated in the regulation of a large spectrum of both general and specialized signaling pathway
  • playing a crucial role in neronal development by sustaining the effects of CDK5 phosphorylation
  • involved in the proper localization of NDEL1 and PAFAH1B1 in axons
  • YWHAE and DISC1, two schizophrenia susceptibility factors have been implicated in the regulation of spine density
  • CELLULAR PROCESS cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • complex LIS1/CDK5/NDEL1/YWHAE, pathway in neuronal migration and development
  • HDAC7 directly binds to beta-catenin and forms a complex with YWHAE, YWHAZ, and YWHAH proteins
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • p38 MAP kinase
  • LIS1 and NDEL1 (maintaining phosphorylation of NDEL1)
  • KCNH2 (to control the membrane excitability and cardiac rhythm)
  • HCV core protein
  • forms a complex with DISC1 (both DISC1 and YWHAE are required for neuronal development via transport of the NUDEL/LIS1 complex
  • interaction with YWHAB, ATXN1, YWHAH, YWHAZ mediated by AKT1 to modulate the neurotoxicity of SCA1
  • cell & other
    REGULATION
    activated by Cl-channel with CLCA1
    ASSOCIATED DISORDERS
    corresponding disease(s) MDS , DEL17P13D , DUP17P13
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in gastric cancer
    tumoral   deletion    
    in small cell lung cancer
    constitutional     --low  
    synaptic reduction of DISC1 and YWHAE is developmentally correlated with the age-dependent decrease in striatal spine density
    Susceptibility to schizophrenia
    Variant & Polymorphism SNP SNP which influence the expression of 14-3-3 epsilon RNA and protein, is associated with schizophrenia and seems to work protectively
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS