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... See more...

Aliases for YWHAH Gene

Aliases for YWHAH Gene

  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta 2 3 5
  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Eta Polypeptide 2 3
  • 14-3-3 Protein Eta 3 4
  • 14-3-3 Eta 2 3
  • YWHA1 3 4
  • 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 Early-Onset Schizophrenia and Deafness, Autosomal Dominant 64. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and LKB1 signaling events. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and actin binding. An important paralog of this gene is YWHAG.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for YWHAH Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for YWHAH Gene

Genomics for YWHAH Gene

GeneHancer (GH) Regulatory Elements for YWHAH Gene

Promoters and enhancers for YWHAH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around YWHAH on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for YWHAH

Top Transcription factor binding sites by QIAGEN in the YWHAH gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun

Genomic Locations for YWHAH Gene

Genomic Locations for YWHAH Gene
chr22:31,944,493-31,957,603
(GRCh38/hg38)
Size:
13,111 bases
Orientation:
Plus strand
chr22:32,340,447-32,353,590
(GRCh37/hg19)
Size:
13,144 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). Interacts with PI4KB, TBC1D22A and TBC1D22B (PubMed:23572552). Interacts with SLITRK1 (PubMed:19640509).

    Three dimensional structures from OCA and Proteopedia for YWHAH Gene

neXtProt entry for YWHAH Gene

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 Lys69 and Lys110
  • Modification sites at PhosphoSitePlus

Other Protein References for YWHAH Gene

No data available for DME Specific Peptides for YWHAH Gene

Domains & Families for YWHAH Gene

Gene Families for YWHAH Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for YWHAH Gene

Blocks:
  • 14-3-3 protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for YWHAH Gene

GenScript: Design optimal peptide antigens:
  • Protein AS1 (1433F_HUMAN)

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

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.
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

Phenotypes From GWAS Catalog for YWHAH Gene

Gene Ontology (GO) - Molecular Function for YWHAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0004497 monooxygenase activity IEA --
GO:0005159 insulin-like growth factor receptor binding ISS --
GO:0005515 protein binding IPI 10713667
GO:0017080 sodium channel regulator activity IDA 16728661
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

CRISPR Products

miRNA for YWHAH Gene

miRTarBase miRNAs that target YWHAH

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for YWHAH

Clone Products

  • Addgene plasmids for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for YWHAH gene
Compartment Confidence
cytosol 5
plasma membrane 4
mitochondrion 3
nucleus 3
cytoskeleton 2
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for YWHAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 16728661
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

Pathways by source for YWHAH Gene

4 GeneGo (Thomson Reuters) pathways for YWHAH Gene
  • Apoptosis and survival BAD phosphorylation
  • 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
  • Immune response Function of MEF2 in T lymphocytes
1 R&D Systems pathway for YWHAH Gene
2 Tocris pathways for YWHAH Gene
18 Qiagen pathways for YWHAH Gene
  • 14-3-3 and Cell Cycle Regulation
  • 14-3-3 and Regulation of BAD Activity
  • 14-3-3 Induced Apoptosis
  • 14-3-3 Induced Intracellular Signaling
  • Activation of cAMP-Dependent PKA
4 Cell Signaling Technology pathways for YWHAH Gene
2 GeneTex pathways for YWHAH Gene

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:0021762 substantia nigra development HEP 22926577
GO:0042921 glucocorticoid receptor signaling pathway IDA 15790729
genes like me logo Genes that share ontologies with YWHAH: view

Drugs & Compounds for YWHAH Gene

(3) Drugs for YWHAH Gene - From: DrugBank, ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenethyl isothiocyanate Investigational Pharma Target 14
R18 Pharma 14.3.3 proteins Antagonist, Inhibitor of 14.3.3 proteins 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Difopein
396834-58-5

(2) Tocris Compounds for YWHAH 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 211364-78-2

(1) ApexBio Compounds for YWHAH Gene

Compound Action Cas Number
R18 14.3.3 proteins Antagonist 211364-78-2
genes like me logo Genes that share compounds with YWHAH: view

Drug Products

Transcripts for YWHAH Gene

mRNA/cDNA for YWHAH Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for YWHAH

Clone Products

  • Addgene plasmids for YWHAH

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

Expression for YWHAH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for YWHAH Gene



Protein tissue co-expression partners for YWHAH Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for YWHAH

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.

Evidence on tissue expression from TISSUES for YWHAH Gene

  • Nervous system(5)
  • Blood(4.4)
  • Liver(4.4)
  • Skin(4.3)
  • Pancreas(4)
  • Heart(2.4)
  • Spleen(2.2)
  • Intestine(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with YWHAH: view

No data available for Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.46 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia YWHAH 31
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia YWHAH 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia YWHAH 31 30
  • 95.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ywhah 17 31 30
  • 93.22 (n)
rat
(Rattus norvegicus)
Mammalia Ywhah 30
  • 92.82 (n)
cow
(Bos Taurus)
Mammalia YWHAH 31 30
  • 90.24 (n)
OneToOne
chicken
(Gallus gallus)
Aves YWHAH 31 30
  • 85.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 50 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ywhah 30
  • 78.86 (n)
Str.16325 30
zebrafish
(Danio rerio)
Actinopterygii ywhah 31 30
  • 76.87 (n)
OneToOne
wufb51h04 30
fruit fly
(Drosophila melanogaster)
Insecta 14-3-3&zgr; 32
  • 73 (a)
worm
(Caenorhabditis elegans)
Secernentea M117.3 31
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BMH1 31
  • 56 (a)
ManyToMany
BMH2 31
  • 55 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 59 (a)
ManyToMany
CSA.10834 31
  • 58 (a)
ManyToMany
CSA.10888 31
  • 53 (a)
ManyToMany
-- 31
  • 50 (a)
ManyToMany
CSA.11325 31
  • 49 (a)
ManyToMany
-- 31
  • 47 (a)
ManyToMany
Species where no ortholog for YWHAH was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for YWHAH: view image

Paralogs for YWHAH Gene

Paralogs for YWHAH Gene

(9) SIMAP similar genes for YWHAH Gene using alignment to 4 proteins:

  • 1433F_HUMAN
  • A2IDB1_HUMAN
  • A2IDB2_HUMAN
  • F8WEB6_HUMAN
genes like me logo Genes that share paralogs with YWHAH: view

Variants for YWHAH Gene

Additional dbSNP identifiers (rs#s) for YWHAH Gene

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

Variant ID Type Subtype PubMed ID
nsv1072209 CNV deletion 25765185
nsv1110864 OTHER inversion 24896259
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)

Additional Variant Information for YWHAH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
YWHAH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for YWHAH Gene

Disorders for YWHAH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
early-onset schizophrenia
  • early onset schizophrenia
deafness, autosomal dominant 64
  • dfna64
schizophrenia 14
  • sczd14
bipolar disorder
  • major affective disorder 1
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards
Search YWHAH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for YWHAH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 DA (American journal of medical genetics 2000) 3 23 41 54
  2. 14-3-3 protein eta chain gene (YWHAH) polymorphism and its genetic association with schizophrenia. (PMID: 10206237) Toyooka K … Takahashi Y (American journal of medical genetics 1999) 3 23 41 54
  3. The human and bovine 14-3-3 eta protein mRNAs are highly conserved in both their translated and untranslated regions. (PMID: 8218406) Swanson KD … Joshi JG (Biochimica et biophysica acta 1993) 3 4 23 54
  4. cDNA cloning and chromosome assignment of the gene for human brain 14-3-3 protein eta chain. (PMID: 1578511) Ichimura-Ohshima Y … Kuwano R (Journal of neuroscience research 1992) 3 4 23 54
  5. ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding. (PMID: 23572552) Greninger AL … DeRisi JL (mBio 2013) 3 4 54

Products for YWHAH Gene

  • Signalway ELISA kits for YWHAH
  • Signalway Proteins for YWHAH

Sources for YWHAH Gene