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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

YWHAH Gene

protein-coding   GIFtS: 69
GCID: GC22P032340

Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation...


(Previous symbol: YWHA1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein,
Eta Polypeptide1 2
YWHA11 2 3 5
14-3-3 Eta1 2
14-3-3 Protein Eta2
Protein AS13

External Ids:    HGNC: 128531   Entrez Gene: 75332   Ensembl: ENSG000001282457   OMIM: 1135085   UniProtKB: Q049173   
ORGUL members:         

Export aliases for YWHAH gene to outside databases

Previous GC identifers: GC22P029036 GC22P030665 GC22P015296


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for YWHAH 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 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence
in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and
psychotic bipolar disorder. (provided by RefSeq, Jun 2009)

GeneCards Summary for YWHAH Gene: 
YWHAH (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide) is a protein-coding gene. Diseases associated with YWHAH include early-onset schizophrenia, and bipolar disorder, and among its related super-pathways are Cell cycle and Cell cycle Role of 14-3-3 proteins in cell cycle regulation. GO annotations related to this gene include actin binding and protein domain specific binding. An important paralog of this gene is YWHAE.

UniProtKB/Swiss-Prot: 1433F_HUMAN, Q04917
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.
Negatively regulates the kinase activity of PDPK1

summary for YWHAH 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 YWHAH Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the YWHAH gene promoter:
         c-Fos   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): YWHAH promoter sequence
   Search SABiosciences Chromatin IP Primers for YWHAH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat YWHAH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q12.3   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q12.1-q13.1

YWHAH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
YWHAH gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P032340:  view genomic region     (about GC identifiers)

Start:
32,340,447 bp from pter      End:
32,353,590 bp from pter
Size:
13,144 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 1433F_HUMAN, Q04917 (See protein sequence)
Recommended Name: 14-3-3 protein eta  
Size: 246 amino acids; 28219 Da
Subunit: Homodimer (By similarity). Interacts with many nuclear hormone receptors and cofactors including AR,
ESR1, ESR2, MC2R, NR3C1, NRIP1, PPARBP and THRA. Interacts with ABL1 (phosphorylated form); the interaction
retains it in the cytoplasm. Interacts with ARHGEF28 and CDK16 (By similarity). Weakly interacts with CDKN1B.
Interacts with GAB2. Interacts with KCNK18 in a phosphorylation-dependent manner. Interacts with SAMSN1 (By
similarity). Interacts with the 'Ser-241' phosphorylated form of PDPK1
2 PDB 3D structures from and Proteopedia for YWHAH:
2C63 (3D)        2C74 (3D)    

Explore the universe of human proteins at neXtProt for YWHAH: NX_Q04917

Explore proteomics data for YWHAH at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on Ser-59 by protein kinase C delta type catalytic subunit in a sphingosine-dependent fashion (By
    similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q04917

  • YWHAH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    YWHAH Protein Expression
    REFSEQ proteins: NP_003396.1  
    ENSEMBL proteins: 
     ENSP00000248975   ENSP00000408468   ENSP00000380629   ENSP00000406747  
    Reactome Protein details: Q04917
    Human Recombinant Protein Products for YWHAH: 
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    Sino Biological Recombinant Protein for YWHAH
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    ProSpec Recombinant Protein for YWHAH
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA16728661
    GO:0014704intercalated disc IC16728661
    GO:0030659cytoplasmic vesicle membrane TAS--

    YWHAH for ontologies           About GeneDecksing



    YWHAH Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR023410 14-3-3_domain
     IPR000308 14-3-3
     IPR023409 14-3-3_CS

    Graphical View of Domain Structure for InterPro Entry Q04917

    ProtoNet protein and cluster: Q04917

    1 Blocks protein domain: IPB000308 14-3-3 protein

    UniProtKB/Swiss-Prot: 1433F_HUMAN, Q04917
    Similarity: Belongs to the 14-3-3 family


    YWHAH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 1433F_HUMAN, Q04917
    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.
    Negatively regulates the kinase activity of PDPK1

         Genatlas biochemistry entry for YWHAH:
    tyrosine 3-monooxygenase/trytophan 5 monooxygenase activation protein,14-3-3 eta protein,multifunctional regulator
    involved in cell-cyle control (checkpoint), and signal transduction,inhibitor of apoptosis through inhibiting the
    activation of p38 MAP kinase

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005159insulin-like growth factor receptor binding ISS--
    GO:0005515protein binding IPI10713667
    GO:0017080sodium channel regulator activity IDA16728661
    GO:0019899enzyme binding IPI17255105
         
    YWHAH for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Ywhah (no phenotypes)

    YWHAH for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for YWHAH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for YWHAH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for YWHAH 
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    SwitchGear 3'UTR luciferase reporter plasmidYWHAH 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for YWHAH About   (see all 46)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    2Cell cycle Role of 14-3-3 proteins in cell cycle regulation
    Cell cycle Role of 14-3-3 proteins in cell cycle regulation0.45
    14-3-3 and Cell Cycle Regulation0.45
    3Development Dopamine D2 receptor transactivation of EGFR
    Apoptosis and survival BAD phosphorylation0.41
    BAD Phosphorylation0.41
    4Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    5Activation of BH3-only proteins
    Activation of BH3-only proteins0.68
    Intrinsic Pathway for Apoptosis0.63
    Activation of BAD and translocation to mitochondria 0.68

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 EMD Millipore Pathways for YWHAH
        Immune response Function of MEF2 in T lymphocytes
    Cell cycle Role of 14-3-3 proteins in cell cycle regulation
    Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    Apoptosis and survival BAD phosphorylation

    1 R&D Systems Pathway for YWHAH
        Apoptosis Signaling Pathways

    5/18 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for YWHAH (see all 18)
        14-3-3 Induced Apoptosis
    DHA Signaling
    PKA Signaling
    ERK5 Signaling
    BDNF Pathway

    3 Cell Signaling Technology (CST) Pathways for YWHAH
        Apoptosis and Autophagy
    Cell Cycle / Checkpoint Control
    Tyrosine Kinases / Adaptors

    2 Tocris Bioscience Pathways for YWHAH
        Insulin Pathway
    Apoptosis Pathway

    4 GeneGo (Thomson Reuters) Pathways for YWHAH
        Apoptosis and survival BAD phosphorylation
    Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    Immune response Function of MEF2 in T lymphocytes
    Cell cycle Role of 14-3-3 proteins in cell cycle regulation

    5/18 BioSystems Pathways for YWHAH (see all 18)
        Myometrial Relaxation and Contraction Pathways
    Cell cycle
    Calcium Regulation in the Cardiac Cell
    SIDS Susceptibility Pathways
    Alpha6-Beta4 Integrin Signaling Pathway


    5/6        Reactome Pathways for YWHAH (see all 6)
        Activation of BH3-only proteins
    Activation of BAD and translocation to mitochondria
    Intrinsic Pathway for Apoptosis
    Membrane Trafficking
    Translocation of GLUT4 to the Plasma Membrane


    5/6         Kegg Pathways  (Kegg details for YWHAH) (see all 6):
        Cell cycle
    Oocyte meiosis
    PI3K-Akt signaling pathway
    Hippo signaling pathway
    Epstein-Barr virus infection


    YWHAH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for YWHAH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/382 Interacting proteins for YWHAH (Q049171, 2, 3 ENSP000002489754) via UniProtKB, MINT, STRING, and/or I2D (see all 382)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MARK2Q7KZI71, 2, 3, ENSP000003891844EBI-306940,EBI-516560 MINT-8009011 MINT-8009018 I2D: score=3 STRING: ENSP00000389184
    GREM1O605651, 2, 3, ENSP000003001774EBI-306940,EBI-944395 MINT-8007394 I2D: score=4 STRING: ENSP00000300177
    YWHAGP619812, 3, ENSP000003063304MINT-7300139 MINT-6542674 MINT-7264099 MINT-7899812 I2D: score=2 STRING: ENSP00000306330
    YWHAQP273482, 3, ENSP000002380814MINT-7300139 MINT-7264099 MINT-7899812 I2D: score=3 STRING: ENSP00000238081
    YWHAEP622582, 3, ENSP000002643354MINT-7300139 MINT-7899812 I2D: score=6 STRING: ENSP00000264335
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002028regulation of sodium ion transport IDA16728661
    GO:0006713glucocorticoid catabolic process IDA15790729
    GO:0006886intracellular protein transport ISS--
    GO:0006915apoptotic process TAS--
    GO:0042921glucocorticoid receptor signaling pathway IDA15790729

    YWHAH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    YWHAH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for YWHAH available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DifopeinHigh affinity inhibitor of 14.3.3 proteins; induces apoptosis[396834-58-5]
    R18Inhibitor of 14.3.3 proteins; induces apoptosis[211364-78-2]

    1 Novoseek inferred chemical compound relationship for YWHAH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 33.8 1 16545136 (1)

    Search CenterWatch for drugs/clinical trials and news about YWHAH / 1433F

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for YWHAH gene: 
    NM_003405.3  

    Unigene Cluster for YWHAH:

    Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide
    Hs.226755  [show with all ESTs]
    Unigene Representative Sequence: NM_003405
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000248975(uc003alz.3) ENST00000443669 ENST00000397492 ENST00000479649
    ENST00000471374(uc003ama.3 uc010gwm.3) ENST00000420430
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK307750.1 AK312650.1 AY007132.1 BC003047.1 CR456612.1 L08439.1 L20422.1 S80794.1 
    X57345.1 X78138.1 

    24/36 DOTS entries (see all 36):

    DT.95111929  DT.448876  DT.101976744  DT.100711364  DT.407748  DT.120670119  DT.91783556  DT.100851802 
    DT.100700123  DT.100637903  DT.97771863  DT.120670168  DT.95109036  DT.99965707  DT.100733502  DT.100847487 
    DT.100852063  DT.92342680  DT.100637738  DT.100647593  DT.100650467  DT.100647591  DT.100659038  DT.100662630 

    24/810 AceView cDNA sequences (see all 810):

    BQ000356 BC003047 BU784398 CR624998 F04963 CR616670 BU070540 BX430121 
    BX397091 BQ424474 CA397229 AI089839 BQ787495 BQ072030 BU677803 BQ270511 
    BQ267143 BU196763 BU783343 BQ549222 BX417694 AI423963 BQ267763 BQ879509 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for YWHAH (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for YWHAH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    YWHAH expression in normal human tissues (normalized intensities)      YWHAH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAATCAAGA
    YWHAH Expression
    About this image


    YWHAH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 25 entries
             Thalamus
             Olfactory Bulb   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 5 entries
             autonomic/sympathetic/ganglion   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Double Negative 2 Thymocytes Thymus
             mouse/organ system/cardiovascular system   

    See YWHAH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for YWHAH

    SOURCE GeneReport for Unigene cluster: Hs.226755

    UniProtKB/Swiss-Prot: 1433F_HUMAN, Q04917
    Tissue specificity: Expressed mainly in the brain and present in other tissues albeit at lower levels

        SABiosciences Expression via Pathway-Focused PCR Arrays including YWHAH: 
              Multiple Sclerosis in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for YWHAH gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ywhah1 , 5 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase more1, 5 93.22(n)1
    99.19(a)1
      5 (17.42 cM)5
    226291  NM_011738.21  NP_035868.11 
     330188165 
    chicken
    (Gallus gallus)
    Aves YWHAH1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase more 85.91(n)
    97.97(a)
      416955  NM_001007839.1  NP_001007840.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia BC045230.12   -- 80.56(n)    BC045230.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb51h042 Danio rerio cDNA clone MGC63883 IMAGE6789640, complete more 78.49(n)    BC053130.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta 14-3-3&zgr;3 RAS protein signal transduction
    diacylglycerol-activated/phospholipid
    more
    73(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea ftt-26
    par-56
    14-3-3-like protein 1
    73(a)
    73(a)
    many ↔ many
    many ↔ many
    X(11603707-11605421)
    IV(11820505-11821924)


    ENSEMBL Gene Tree for YWHAH (if available)
    TreeFam Gene Tree for YWHAH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for YWHAH gene
    YWHAE2  YWHAB2  YWHAQ2  YWHAG2  SFN2  YWHAZ2  
    9 SIMAP similar genes for YWHAH using alignment to 4 protein entries:     1433F_HUMAN     F8WEB6_HUMAN     A2IDB2_HUMAN     A2IDB1_HUMAN(see first protein):
    YWHAG    YWHAB    YWHAZ    YWHAQ    SFN    14-3-3 protein
    YWHAE    YWHAE/FAM22A fusion    YWHAE/FAM22B fusion

    YWHAH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/232 SNPs in YWHAH are shown (see all 232)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1910129111,2
    --32343405(+) CACTTA/GATAAT 1 -- int10--------
    rs1831334371,2
    --32343452(+) CCAGCA/GTCACC 1 -- int10--------
    rs762705741,2
    C--32343478(+) GTAAGA/CTTGAA 1 -- int10--------
    rs1883118861,2
    C--32343508(+) AAACAA/GTGGTC 1 -- int10--------
    rs106317881,2
    C--32343613(+) TCAAGCTCT/-  
            
    CTCTA
    1 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs343249181,2
    C--32343614(+) CAAGC-/CTCT  
            
    TCTAT
    1 -- int10--------
    rs1498527091,2
    C--32343662(+) AAGAAA/GTATTG 1 -- int10--------
    rs1466569501,2
    --32343680(+) TTCTAC/GAACCT 1 -- int10--------
    rs738842431,2
    C,F--32343831(+) ACCAGA/GTAGAT 1 -- int13Minor allele frequency- G:0.05WA NA 240
    rs9332261,2
    C,F,O,A,H--32343847(+) GTGGAT/CATTCA 1 -- int122Minor allele frequency- C:0.11EA NA MN NS 1606

    HapMap Linkage Disequilibrium report for YWHAH (32340447 - 32353590 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for YWHAH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508731CNV Insertion20534489

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 113508    OMIM disorders: --

    15 diseases for YWHAH:    About MalaCards
    early-onset schizophrenia    bipolar disorder    schizophrenia    lipodystrophy
    sporadic breast cancer    insulin resistance    parkinson's disease    alcoholism
    multiple sclerosis    myeloid leukemia    squamous cell carcinoma    breast cancer
    leukemia    endotheliitis    neuronitis


    YWHAH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for YWHAH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 31 2 10206237 (1), 11121172 (1)
    tumors 0 1 1578511 (1)

    Genetic Association Database (GAD): YWHAH
    Human Genome Epidemiology (HuGE) Navigator: YWHAH (4 documents)

    Export disorders for YWHAH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for YWHAH gene, integrated from 9 sources (see all 145):
    (articles sorted by number of sources associating them with YWHAH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and chromosome assignment of the gene for human brain 14-3-3 protein eta chain. (PubMed id 1578511)1, 2, 9 Ichimura-Ohshima Y.... Kuwano R. (1992)
    2. The human and bovine 14-3-3 eta protein mRNAs are highly conserved in both their translated and untranslated regions. (PubMed id 8218406)1, 2, 9 Swanson K.D.... Joshi J.G. (1993)
    3. 14-3-3 protein eta chain gene (YWHAH) polymorphism and its genetic association with schizophrenia. (PubMed id 10206237)1, 4, 9 Toyooka K....Takahashi Y. (1999)
    4. Systematic screening of the 14-3-3 eta (eta) chain gene for polymorphic variants and case-control analysis in schizophrenia. (PubMed id 11121172)1, 4, 9 Bell R....Collier D.A. (2000)
    5. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PubMed id 18950845)1, 4 Vega A....Carracedo A. (2009)
    6. Family-based association of YWHAH in psychotic bipolar disorder. (PubMed id 19160447)1, 4 Grover D....Potash J.B. (2009)
    7. Phosphorylation-dependent binding of 14-3-3 terminates signalling by the Gab2 docking protein. (PubMed id 19172738)1, 2 Brummer T.... Daly R.J. (2008)
    8. [Association study between NPY and YWHAH gene polymorphisms and schizophrenia] (PubMed id 16459651)1, 4 Wang H.S....He L. (2005)
    9. JNK phosphorylation of 14-3-3 proteins regulates nuclear targeting of c-Abl in the apoptotic response to DNA damage. (PubMed id 15696159)1, 2 Yoshida K.... Miki Y. (2005)
    10. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7533 HGNC: 12853 AceView: YWHAH Ensembl:ENSG00000128245 euGenes: HUgn7533
    ECgene: YWHAH Kegg: 7533 H-InvDB: YWHAH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for YWHAH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for YWHAH Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for YWHAH gene:
    Search GeneIP for patents involving YWHAH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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