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Aliases for YWHAH Gene

Aliases for YWHAH Gene

  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta 2 3
  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Eta Polypeptide 2 3
  • 14-3-3 Eta 2 3
  • YWHA1 3 4
  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Eta 5
  • Protein AS1 4

External Ids for YWHAH Gene

Previous HGNC Symbols for YWHAH Gene

  • YWHA1

Previous GeneCards Identifiers for YWHAH Gene

  • GC22P029036
  • GC22P030665
  • GC22P032340
  • GC22P015296

Summaries for YWHAH Gene

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) is a Protein Coding gene. Diseases associated with YWHAH include schizophrenia and early-onset schizophrenia. Among its related pathways are Gene Expression and Signaling by GPCR. GO annotations related to this gene include protein heterodimerization activity and actin binding. An important paralog of this gene is YWHAZ.

UniProtKB/Swiss-Prot for YWHAH 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. Negatively regulates the kinase activity of PDPK1.

Tocris 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/-threonine binding proteins.

Gene Wiki entry for YWHAH Gene

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

Genomics for YWHAH Gene

Regulatory Elements for YWHAH Gene

Promoters for YWHAH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around YWHAH on UCSC Golden Path with GeneCards custom track

Genomic Location for YWHAH Gene

Chromosome:
22
Start:
31,944,461 bp from pter
End:
31,957,603 bp from pter
Size:
13,143 bases
Orientation:
Plus strand

Genomic View for YWHAH Gene

Genes around YWHAH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
YWHAH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for YWHAH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for YWHAH Gene

Proteins for YWHAH Gene

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

    Protein Symbol:
    Q04917-1433F_HUMAN
    Recommended name:
    14-3-3 protein eta
    Protein Accession:
    Q04917

    Protein attributes for YWHAH Gene

    Size:
    246 amino acids
    Molecular mass:
    28219 Da
    Quaternary structure:
    • 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. Interacts with the Thr-369 phosphorylated form of DAPK2 (PubMed:26047703).

    Three dimensional structures from OCA and Proteopedia for YWHAH Gene

neXtProt entry for YWHAH Gene

Proteomics data for YWHAH Gene at MOPED

Post-translational modifications for YWHAH Gene

  • Phosphorylated on Ser-59 by protein kinase C delta type catalytic subunit in a sphingosine-dependent fashion.
  • Ubiquitination at Lys 50 and Lys 110
  • Modification sites at PhosphoSitePlus

Other Protein References for YWHAH Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for YWHAH (14-3-3 eta)

No data available for DME Specific Peptides for YWHAH Gene

Domains & Families for YWHAH Gene

Protein Domains for YWHAH Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for YWHAH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04917

UniProtKB/Swiss-Prot:

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

Function for YWHAH Gene

Molecular function for YWHAH Gene

GENATLAS Biochemistry:
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
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. Negatively regulates the kinase activity of PDPK1.

Gene Ontology (GO) - Molecular Function for YWHAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IEA,IPI 10713667
genes like me logo Genes that share ontologies with YWHAH: view
genes like me logo Genes that share phenotypes with YWHAH: view

Animal Model Products

miRNA for YWHAH Gene

miRTarBase miRNAs that target YWHAH

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for YWHAH Gene

Localization for YWHAH Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for YWHAH Gene COMPARTMENTS Subcellular localization image for YWHAH gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 4
plasma membrane 4
nucleus 2

Gene Ontology (GO) - Cellular Components for YWHAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005739 mitochondrion TAS --
GO:0014704 intercalated disc IC 16728661
genes like me logo Genes that share ontologies with YWHAH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for YWHAH Gene

Pathways & Interactions for YWHAH Gene

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

SIGNOR curated interactions for YWHAH Gene

Inactivates:

Gene Ontology (GO) - Biological Process for YWHAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport IDA 16728661
GO:0006713 glucocorticoid catabolic process IDA 15790729
GO:0006886 intracellular protein transport IEA,ISS --
GO:0006915 apoptotic process TAS --
GO:0021762 substantia nigra development IEP 22926577
genes like me logo Genes that share ontologies with YWHAH: view

Drugs & Compounds for YWHAH Gene

(1) Drugs for YWHAH Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for YWHAH Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Difopein
396834-58-5
R18
211364-78-2
genes like me logo Genes that share compounds with YWHAH: view

Transcripts for YWHAH Gene

Unigene Clusters for YWHAH Gene

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

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

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

Relevant External Links for YWHAH Gene

GeneLoc Exon Structure for
YWHAH
ECgene alternative splicing isoforms for
YWHAH

Expression for YWHAH Gene

mRNA expression in normal human tissues for YWHAH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for YWHAH Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.3), Brain - Anterior cingulate cortex (BA24) (x5.1), Brain - Amygdala (x4.2), and Brain - Cortex (x4.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for YWHAH Gene



SOURCE GeneReport for Unigene cluster for YWHAH Gene Hs.226755

mRNA Expression by UniProt/SwissProt for YWHAH Gene

Q04917-1433F_HUMAN
Tissue specificity: Expressed mainly in the brain and present in other tissues albeit at lower levels.
genes like me logo Genes that share expression patterns with YWHAH: view

Protein tissue co-expression partners for YWHAH Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues for YWHAH Gene

Orthologs for YWHAH Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for YWHAH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia YWHAH 36
  • 100 (a)
OneToOne
YWHAH 35
  • 99.46 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia YWHAH 36
  • 59 (a)
OneToOne
YWHAH 35
  • 90.24 (n)
  • 98.78 (a)
dog
(Canis familiaris)
Mammalia YWHAH 35
  • 95.93 (n)
  • 99.19 (a)
YWHAH 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ywhah 16
Ywhah 36
  • 99 (a)
OneToOne
Ywhah 35
  • 93.22 (n)
  • 99.19 (a)
oppossum
(Monodelphis domestica)
Mammalia YWHAH 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia YWHAH 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ywhah 35
  • 92.82 (n)
  • 99.19 (a)
chicken
(Gallus gallus)
Aves YWHAH 36
  • 98 (a)
OneToOne
YWHAH 35
  • 85.91 (n)
  • 97.97 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 50 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ywhah 35
  • 78.86 (n)
  • 92.68 (a)
Str.16325 35
zebrafish
(Danio rerio)
Actinopterygii ywhah 35
  • 76.87 (n)
  • 84.9 (a)
wufb51h04 35
ywhah 36
  • 85 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta 14-3-3zgr 37
  • 73 (a)
worm
(Caenorhabditis elegans)
Secernentea M117.3 36
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BMH2 36
  • 55 (a)
ManyToMany
BMH1 36
  • 56 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11325 36
  • 49 (a)
ManyToMany
CSA.10888 36
  • 53 (a)
ManyToMany
CSA.10834 36
  • 58 (a)
ManyToMany
-- 36
  • 59 (a)
ManyToMany
-- 36
  • 50 (a)
ManyToMany
-- 36
  • 47 (a)
ManyToMany
Species with no ortholog for YWHAH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for YWHAH Gene

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

Paralogs for YWHAH Gene

Paralogs for YWHAH Gene

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

Variants for YWHAH Gene

Sequence variations from dbSNP and Humsavar for YWHAH Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1049583 -- 31,956,804(+) TTCAG(A/G)TCCCC utr-variant-3-prime
rs1049816 -- 31,957,421(+) TTTGG(G/T)TGCAA utr-variant-3-prime
rs1049865 -- 31,957,548(+) GACTT(C/T)TAAAA utr-variant-3-prime
rs2853885 -- 31,951,073(+) ttttt(A/C)gtaga intron-variant
rs2853886 -- 31,951,159(+) aaagt(C/G)ctggg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv508731 CNV Insertion 20534489

Variation tolerance for YWHAH Gene

Residual Variation Intolerance Score: 37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for YWHAH Gene

HapMap Linkage Disequilibrium report
YWHAH

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

Disorders for YWHAH Gene

MalaCards: The human disease database

(2) MalaCards diseases for YWHAH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • schizophrenia 12
early-onset schizophrenia
  • early onset schizophrenia
- elite association - COSMIC cancer census association via MalaCards
Search YWHAH in MalaCards View complete list of genes associated with diseases

Relevant External Links for YWHAH

Genetic Association Database (GAD)
YWHAH
Human Genome Epidemiology (HuGE) Navigator
YWHAH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
YWHAH
genes like me logo Genes that share disorders with YWHAH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for YWHAH Gene

Publications for YWHAH Gene

  1. cDNA cloning and chromosome assignment of the gene for human brain 14-3-3 protein eta chain. (PMID: 1578511) Ichimura-Ohshima Y. … Kuwano R. (J. Neurosci. Res. 1992) 3 4 23 67
  2. The bone morphogenetic protein antagonist gremlin 1 is overexpressed in human cancers and interacts with YWHAH protein. (PMID: 16545136) Namkoong H. … Kim J.W. (BMC Cancer 2006) 3 23
  3. Systematic screening of the 14-3-3 eta (eta) chain gene for polymorphic variants and case-control analysis in schizophrenia. (PMID: 11121172) Bell R. … Collier D.A. (Am. J. Med. Genet. 2000) 3 23
  4. 14-3-3 protein eta chain gene (YWHAH) polymorphism and its genetic association with schizophrenia. (PMID: 10206237) Toyooka K. … Takahashi Y. (Am. J. Med. Genet. 1999) 3 23
  5. The human and bovine 14-3-3 eta protein mRNAs are highly conserved in both their translated and untranslated regions. (PMID: 8218406) Swanson K.D. … Joshi J.G. (Biochim. Biophys. Acta 1993) 3 23

Products for YWHAH Gene

Sources for YWHAH Gene

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