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Aliases for YWHAE Gene

Aliases for YWHAE Gene

  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Epsilon 2 3
  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Epsilon Polypeptide 2 3
  • 14-3-3 Epsilon 2 3
  • 14-3-3E 3 4
  • MDCR 3 6
  • MDS 3 6
  • Tyrosine 3/Tryptophan 5 -Monooxygenase Activation Protein, Epsilon Polypeptide 3
  • Mitochondrial Import Stimulation Factor L Subunit 3
  • Protein Kinase C Inhibitor Protein-1 3
  • Epididymis Luminal Protein 2 3
  • 14-3-3 Protein Epsilon 3
  • KCIP-1 3
  • HEL2 3

External Ids for YWHAE Gene

Summaries for YWHAE Gene

Entrez Gene Summary for YWHAE Gene

  • This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]

GeneCards Summary for YWHAE Gene

YWHAE (Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Epsilon) is a Protein Coding gene. Diseases associated with YWHAE include 16q24.3 microdeletion syndrome and 17p13.3 microduplication syndrome. Among its related pathways are PI3K-Akt signaling pathway and Signaling by FGFR. GO annotations related to this gene include protein heterodimerization activity and protein domain specific binding. An important paralog of this gene is YWHAZ.

UniProtKB/Swiss-Prot for YWHAE Gene

  • Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner

Tocris Summary for YWHAE Gene

  • 14.3.3 proteins are a group of highly conserved proteins that are involved in many vital cellular processes such as metabolism, protein trafficking, signal transduction, apoptosis and cell cycle regulation. 14.3.3 proteins are phospho-serine/phospho-threonine binding proteins that have a diverse array of partners including transcription factors, biosynthetic enzymes, cytoskeletal proteins, signalling molecules, apoptosis factors and tumour suppressors. The 14.3.3 family consists of 7 isoforms; beta, gamma, epsilon, sigma, zeta, tau and eta. 14.3.3 proteins are ubiquitously expressed and self assemble into homo- and heterodimers, with the exception of 14.3.3sigma, which exclusively forms homodimers and is found in cells of epithelial origin only. Each monomer contains an independent ligand-binding site, thus the 14.3.3 dimer can interact with two target proteins simultaneously. 14.3.3 proteins are highly rigid structures and ligand binding can induce conformational changes that alter the stability and/or catalytic activity of the ligand. Furthermore, 14.3.3 protein binding can physically occlude sequence-specific or structural motifs on the target that prevent molecular interactions and/or modulate the accessibility of a target protein to modifying enzymes such as kinases, phosphatases and proteases. In addition, 14.3.3 proteins can act as a scaffold molecule to anchor target proteins within close proximity of one another. 14.3.3 proteins represent an integration point for proliferative, survival, apoptotic and stress signalling pathways. Members of the 14.3.3 protein family enhance the activity of many proteins with proliferative and/or survival functions, such as Raf kinases, and antagonise the activity of proteins that promote cell death and senescence, such as Bad, Bim and Bax. In contrast, 14.3.3sigma acts as a tumour suppressor and its expression is upregulated coordinately with p53 and BRAC1. This isoform sequesters cdk1-cyclin B complexes in the cytoplasm, and thus delays cell cycle progression. 14.3.3sigma is also a crucial regulator of translation during mitosis. Because many 14.3.3 interactions are phosphorylation dependent, 14.3.3 proteins have been integrated into the core regulatory pathways that are crucial for normal growth and development. 14.3.3 proteins are directly involved in cellular processes such as cytokinesis, cell-contact inhibition, anchorage-independent growth and cell adhesion, and it is these pathways that often become dysregulated in disease states such as cancer.

Gene Wiki entry for YWHAE Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for YWHAE Gene

Genomics for YWHAE Gene

Genomic Location for YWHAE Gene

Start:
1,344,272 bp from pter
End:
1,400,378 bp from pter
Size:
56,107 bases
Orientation:
Minus strand

Genomic View for YWHAE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for YWHAE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for YWHAE Gene

Regulatory Elements for YWHAE Gene

Proteins for YWHAE Gene

  • Protein details for YWHAE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62258-1433E_HUMAN
    Recommended name:
    14-3-3 protein epsilon
    Protein Accession:
    P62258
    Secondary Accessions:
    • B3KY71
    • D3DTH5
    • P29360
    • P42655
    • Q4VJB6
    • Q53XZ5
    • Q63631
    • Q7M4R4

    Protein attributes for YWHAE Gene

    Size:
    255 amino acids
    Molecular mass:
    29174 Da
    Quaternary structure:
    • Homodimer. Heterodimerizes with YWHAZ. Interacts with NDEL1, ARHGEF28 and TIAM2 (By similarity). Interacts with HCV core protein. Interacts with ABL1 (phosphorylated form); the interaction retains it in the cytoplasm. Weakly interacts with CDKN1B. Interacts with GAB2. Interacts with phosphorylated GRB10. Interacts with PKA-phosphorylated AANAT. Interacts with the phosphorylated (by AKT1) form of SRPK2.

    Three dimensional structures from OCA and Proteopedia for YWHAE Gene

    Alternative splice isoforms for YWHAE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for YWHAE Gene

Proteomics data for YWHAE Gene at MOPED

Post-translational modifications for YWHAE Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys12, Lys50, Lys106, Lys118, Lys123, Lys142, Lys196, and Lys244

Other Protein References for YWHAE Gene

No data available for DME Specific Peptides for YWHAE Gene

Domains for YWHAE Gene

Protein Domains for YWHAE Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for YWHAE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P62258

UniProtKB/Swiss-Prot:

1433E_HUMAN
Family:
  • Belongs to the 14-3-3 family.:
    • P62258
genes like me logo Genes that share domains with YWHAE: view

No data available for Gene Families for YWHAE Gene

Function for YWHAE Gene

Molecular function for YWHAE Gene

GENATLAS Biochemistry: tyrosine 3-monooxygenase/trytophan 5 monooxygenase activation protein,14-3-3 epsilon protein,multifunctional regulator involved in cell-cyle control (checkpoint) and signal transduction,inhibitor of apoptosis through inhibiting the activation of p38 MAP kinase
UniProtKB/Swiss-Prot Function: Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner

Gene Ontology (GO) - Molecular Function for YWHAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10644344
GO:0015459 potassium channel regulator activity IDA 11953308
GO:0019899 enzyme binding IPI 10788521
GO:0019904 protein domain specific binding IEA --
GO:0023026 MHC class II protein complex binding IDA 20458337
genes like me logo Genes that share ontologies with YWHAE: view
genes like me logo Genes that share phenotypes with YWHAE: view

Animal Models for YWHAE Gene

MGI Knock Outs for YWHAE:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for YWHAE Gene

Localization for YWHAE Gene

Subcellular locations from UniProtKB/Swiss-Prot for YWHAE Gene

Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for YWHAE Gene COMPARTMENTS Subcellular localization image for YWHAE gene
Compartment Confidence
cytosol 4
cytoskeleton 2
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for YWHAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005871 kinesin complex IEA --
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with YWHAE: view

Pathways for YWHAE Gene

genes like me logo Genes that share pathways with YWHAE: view

Gene Ontology (GO) - Biological Process for YWHAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0001764 neuron migration IEA --
GO:0003064 regulation of heart rate by hormone NAS 11953308
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with YWHAE: view

Compounds for YWHAE Gene

(2) Tocris Compounds for YWHAE Gene

Compound Action Cas Number
Difopein High affinity inhibitor of 14.3.3 proteins; induces apoptosis [396834-58-5]
R18 Inhibitor of 14.3.3 proteins; induces apoptosis [211364-78-2]

(1) Drugbank Compounds for YWHAE Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Fusicoccin
20108-30-9 target
genes like me logo Genes that share compounds with YWHAE: view

Transcripts for YWHAE Gene

Unigene Clusters for YWHAE Gene

Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for YWHAE Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - -
SP2: - - - - -
SP3: -
SP4:
SP5: - - - - - - - -
SP6: -

Relevant External Links for YWHAE Gene

GeneLoc Exon Structure for
YWHAE
ECgene alternative splicing isoforms for
YWHAE

Expression for YWHAE Gene

mRNA expression in normal human tissues for YWHAE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for YWHAE Gene

SOURCE GeneReport for Unigene cluster for YWHAE Gene Hs.513851

genes like me logo Genes that share expressions with YWHAE: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for YWHAE Gene

Orthologs for YWHAE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for YWHAE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia YWHAE 35
  • 99.87 (n)
  • 100 (a)
YWHAE 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia YWHAE 35
  • 97.78 (n)
  • 100 (a)
YWHAE 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 100 (a)
ManyToMany
YWHAE 35
  • 97.52 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Ywhae 35
  • 93.46 (n)
  • 100 (a)
Ywhae 16
Ywhae 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia YWHAE 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia YWHAE 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ywhae 35
  • 92.68 (n)
  • 98.82 (a)
chicken
(Gallus gallus)
Aves YWHAE 35
  • 92.16 (n)
  • 100 (a)
YWHAE 36
  • 100 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ywhae-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11270 35
ywhae 35
  • 87.84 (n)
  • 96.47 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12083 35
zebrafish
(Danio rerio)
Actinopterygii Dr.1412 35
ywhae1 36
  • 96 (a)
OneToOne
ywhae2 35
  • 80.26 (n)
  • 91.76 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001151 35
  • 71.39 (n)
  • 87.01 (a)
fruit fly
(Drosophila melanogaster)
Insecta 14-3-3epsilon 35
  • 71.16 (n)
  • 86.51 (a)
14-3-3epsilon 36
  • 82 (a)
OneToOne
14-3-3zgr 37
  • 68 (a)
14-3-3egr 37
  • 83 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR107C 35
  • 64.03 (n)
  • 78.33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BMH1 35
  • 65.31 (n)
  • 75.51 (a)
BMH1 36
  • 69 (a)
ManyToMany
BMH2 36
  • 68 (a)
ManyToMany
BMH2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12100g 35
  • 64.99 (n)
  • 78.57 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2080 35
soybean
(Glycine max)
eudicotyledons Gma.16576 35
thale cress
(Arabidopsis thaliana)
eudicotyledons GRF3 35
  • 66.94 (n)
  • 77.24 (a)
rice
(Oryza sativa)
Liliopsida Os.3440 35
Os03g0710800 35
  • 67.76 (n)
  • 77.78 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02806 35
  • 67.1 (n)
  • 79.13 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rad25 35
  • 65.82 (n)
  • 74.89 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4400 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5346 36
  • 75 (a)
ManyToMany
Species with no ortholog for YWHAE:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for YWHAE Gene

ENSEMBL:
Gene Tree for YWHAE (if available)
TreeFam:
Gene Tree for YWHAE (if available)

Paralogs for YWHAE Gene

Paralogs for YWHAE Gene

genes like me logo Genes that share paralogs with YWHAE: view

Variants for YWHAE Gene

Sequence variations from dbSNP and Humsavar for YWHAE Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs7266 -- 1,345,172(-) TTACT(A/G)TGTCG utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B
rs9393 -- 1,345,098(-) ACTTA(C/T)AGGTG utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B
rs15219 -- 1,344,668(-) GTAAC(G/T)TGAAG utr-variant-3-prime, nc-transcript-variant
rs173329 -- 1,374,074(+) gcact(C/T)tggga intron-variant
rs181444 -- 1,345,247(+) AATCC(A/C)CAGAA utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for YWHAE Gene

Variant ID Type Subtype PubMed ID
dgv3027n71 CNV Gain 21882294
nsv528360 CNV Gain 19592680
nsv827854 CNV Gain 20364138
esv2715460 CNV Deletion 23290073
esv2658878 CNV Deletion 23128226
esv2656849 CNV Deletion 23128226
esv2662454 CNV Deletion 23128226
nsv470567 CNV Gain 18288195

Relevant External Links for YWHAE Gene

HapMap Linkage Disequilibrium report
YWHAE
Human Gene Mutation Database (HGMD)
YWHAE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for YWHAE Gene

Disorders for YWHAE Gene

(1) University of Copenhagen DISEASES for YWHAE Gene

Relevant External Links for YWHAE

Genetic Association Database (GAD)
YWHAE
Human Genome Epidemiology (HuGE) Navigator
YWHAE
genes like me logo Genes that share disorders with YWHAE: view

No data available for UniProtKB/Swiss-Prot for YWHAE Gene

Publications for YWHAE Gene

  1. In vivo and in vitro association of 14-3-3 epsilon isoform with calmodulin: implication for signal transduction and cell proliferation. (PMID: 10088721) Luk S.C. … Waye M.M. (J. Cell. Biochem. 1999) 3 23
  2. Cleavage of 14-3-3 protein by caspase-3 facilitates bad interaction with Bcl-x(L) during apoptosis. (PMID: 12657644) Won J. … Joe C.O. (J. Biol. Chem. 2003) 3 23
  3. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. (PMID: 19584063) Nagamani S.C. … Stankiewicz P. (J. Med. Genet. 2009) 3 23
  4. Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. (PMID: 19635726) Mignon-Ravix C. … Villard L. (J. Med. Genet. 2010) 3 23
  5. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. (PMID: 20452996) Bruno D.L. … Schoumans J. (J. Med. Genet. 2010) 3 23

Products for YWHAE Gene

  • Addgene plasmids for YWHAE

Sources for YWHAE Gene

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