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 and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR... See more...

Aliases for YWHAQ Gene

Aliases for YWHAQ Gene

  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta 2 3 5
  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Theta Polypeptide 2 3
  • 14-3-3 Protein T-Cell 3 4
  • 14-3-3 Protein Theta 3 4
  • 14-3-3 Protein Tau 3 4
  • Protein, Theta 2 3
  • 14-3-3 Theta 2 3
  • 14-3-3 2 3
  • HS1 2 3
  • Protein Tau 2
  • Protein HS1 4
  • YWHAQ 5
  • 1C5 3

External Ids for YWHAQ Gene

Previous GeneCards Identifiers for YWHAQ Gene

  • GC02M009507
  • GC02M009775
  • GC02M009745
  • GC02M009674
  • GC02M009641
  • GC02M009724

Summaries for YWHAQ Gene

Entrez Gene Summary for YWHAQ 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 and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for YWHAQ Gene

YWHAQ (Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta) is a Protein Coding gene. Diseases associated with YWHAQ include Creutzfeldt-Jakob Disease and Alzheimer Disease 10. Among its related pathways are DNA Double-Strand Break Repair and Beta-Adrenergic Signaling. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and protein N-terminus binding. An important paralog of this gene is YWHAB.

UniProtKB/Swiss-Prot Summary for YWHAQ 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 YWHAQ 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 YWHAQ Gene

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

Genomics for YWHAQ Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for YWHAQ 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 YWHAQ on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the YWHAQ gene promoter:
  • CREB
  • deltaCREB
  • GR
  • GR-alpha
  • GR-beta
  • MyoD
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for YWHAQ Gene

Latest Assembly
chr2:9,583,967-9,630,997
(GRCh38/hg38)
Size:
47,031 bases
Orientation:
Minus strand

Previous Assembly
chr2:9,724,096-9,771,126
(GRCh37/hg19 by Entrez Gene)
Size:
47,031 bases
Orientation:
Minus strand

chr2:9,724,101-9,771,143
(GRCh37/hg19 by Ensembl)
Size:
47,043 bases
Orientation:
Minus strand

Genomic View for YWHAQ Gene

Genes around YWHAQ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for YWHAQ Gene

Proteins for YWHAQ Gene

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

    Protein Symbol:
    P27348-1433T_HUMAN
    Recommended name:
    14-3-3 protein theta
    Protein Accession:
    P27348
    Secondary Accessions:
    • D6W4Z5
    • Q567U5
    • Q5TZU8
    • Q9UP48

    Protein attributes for YWHAQ Gene

    Size:
    245 amino acids
    Molecular mass:
    27764 Da
    Quaternary structure:
    • Homodimer. Interacts with CDK16 (By similarity). Interacts with RGS7 (phosphorylated form) (PubMed:10862767). Interacts with SSH1. Interacts with CDKN1B ('Thr-198' phosphorylated form); the interaction translocates CDKN1B to the cytoplasm. Interacts with GAB2. 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). Interacts with RIPOR2 isoform 2 (PubMed:25588844). Interacts with INAVA; the interaction increases upon PRR (pattern recognition receptor) stimulation and is required for cellular signaling pathway activation and cytokine secretion (PubMed:28436939). Interacts with MARK2, MARK3 and MARK4 (PubMed:16959763).

    Three dimensional structures from OCA and Proteopedia for YWHAQ Gene

neXtProt entry for YWHAQ Gene

Post-translational modifications for YWHAQ Gene

  • Ser-232 is probably phosphorylated by CK1.
  • Ubiquitination at Lys3, Lys9, Lys27, Lys49, Lys74, Lys75, Lys80, Lys115, and Lys139
  • Modification sites at PhosphoSitePlus

Other Protein References for YWHAQ Gene

Antibodies for research

No data available for DME Specific Peptides for YWHAQ Gene

Domains & Families for YWHAQ Gene

Gene Families for YWHAQ Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for YWHAQ Gene

InterPro:
Blocks:
  • 14-3-3 protein

Suggested Antigen Peptide Sequences for YWHAQ Gene

GenScript: Design optimal peptide antigens:
  • Protein HS1 (1433T_HUMAN)
  • cDNA FLJ52118, highly similar to 14-3-3 protein theta (B4DMT8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P27348

UniProtKB/Swiss-Prot:

1433T_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 YWHAQ: view

Function for YWHAQ Gene

Molecular function for YWHAQ 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/tryptophan 5-monooxygenase activation protein,theta polypeptide stratifin,with likely several forms,one expressed in the cytoplasmic of keratinocyte,another in T cells,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 YWHAQ Gene

Gene Ontology (GO) - Molecular Function for YWHAQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 7760835
GO:0008022 protein C-terminus binding IEA --
GO:0019904 protein domain specific binding IEA --
GO:0042802 identical protein binding IPI 17085597
GO:0044325 ion channel binding IEA --
genes like me logo Genes that share ontologies with YWHAQ: view
genes like me logo Genes that share phenotypes with YWHAQ: view

miRNA for YWHAQ Gene

Inhibitory RNAs for research

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

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

Localization for YWHAQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for YWHAQ Gene

Cytoplasm. Note=In neurons, axonally transported to the nerve terminals.

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 YWHAQ gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 3
mitochondrion 3
plasma membrane 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli rim (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for YWHAQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 15163635
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005925 focal adhesion HDA 21423176
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with YWHAQ: view

Pathways & Interactions for YWHAQ Gene

PathCards logo

SuperPathways for YWHAQ Gene

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

Pathways by source for YWHAQ Gene

4 GeneGo (Thomson Reuters) pathways for YWHAQ 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
2 Tocris pathways for YWHAQ Gene
19 Qiagen pathways for YWHAQ 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 YWHAQ Gene
3 GeneTex pathways for YWHAQ Gene

SIGNOR curated interactions for YWHAQ Gene

Activates:
Inactivates:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for YWHAQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0021762 substantia nigra development HEP 22926577
GO:0034766 negative regulation of ion transmembrane transport IEA --
GO:0045892 negative regulation of transcription, DNA-templated IDA 15163635
genes like me logo Genes that share ontologies with YWHAQ: view

Drugs & Compounds for YWHAQ Gene

(2) Drugs for YWHAQ Gene - From: DrugBank, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenethyl isothiocyanate Investigational Pharma Target 12
R18 Pharma 14.3.3 proteins Antagonist, Inhibitor of 14.3.3 proteins 0

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

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

(2) Tocris Compounds for YWHAQ 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 YWHAQ Gene

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

Drug products for research

Transcripts for YWHAQ Gene

mRNA/cDNA for YWHAQ Gene

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

Inhibitory RNAs for research

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

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

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

Relevant External Links for YWHAQ Gene

GeneLoc Exon Structure for
YWHAQ

Expression for YWHAQ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for YWHAQ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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



Protein tissue co-expression partners for YWHAQ Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for YWHAQ Gene:

Hs.74405

mRNA Expression by UniProt/SwissProt for YWHAQ Gene:

P27348-1433T_HUMAN
Tissue specificity: Abundantly expressed in brain, heart and pancreas, and at lower levels in kidney and placenta. Up-regulated in the lumbar spinal cord from patients with sporadic amyotrophic lateral sclerosis (ALS) compared with controls, with highest levels of expression in individuals with predominant lower motor neuron involvement.

Evidence on tissue expression from TISSUES for YWHAQ Gene

  • Nervous system(5)
  • Skin(4.9)
  • Blood(4.8)
  • Liver(4.7)
  • Pancreas(4.3)
  • Eye(4)
  • Lung(3.9)
  • Intestine(3.6)
  • Kidney(3.4)
  • Muscle(2.9)
  • Heart(2.8)
  • Stomach(2.8)
  • Adrenal gland(2.7)
  • Bone(2.7)
  • Lymph node(2.5)
  • Spleen(2.4)
  • Thyroid gland(2.4)
  • Bone marrow(2.4)
genes like me logo Genes that share expression patterns with YWHAQ: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for YWHAQ Gene

Orthologs for YWHAQ Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for YWHAQ Gene

Organism Taxonomy Gene Similarity Type Details
Mouse
(Mus musculus)
Mammalia Ywhaq 16 30
  • 100 (a)
OneToOne
LOC102634437 29
  • 93.88 (n)
Ywhaq-ps3 16
Chimpanzee
(Pan troglodytes)
Mammalia YWHAQ 29 30
  • 99.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia YWHAQ 29 30
  • 95.78 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia YWHAQ 30
  • 95 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ywhaq 29
  • 94.29 (n)
Cow
(Bos Taurus)
Mammalia YWHAQ 29 30
  • 94.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia YWHAQ 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves YWHAQ 29 30
  • 88.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia YWHAQ 30
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ywhaq 29
  • 72.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii ywhaqa 30
  • 82 (a)
OneToMany
ywhaqb 29 30
  • 75.92 (n)
OneToMany
Dr.1068 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2365 29
Fruit Fly
(Drosophila melanogaster)
Insecta 14-3-3&zgr; 31
  • 77 (a)
14-3-3zeta 30
  • 76 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ftt-2 30
  • 75 (a)
ManyToMany
par-5 30
  • 73 (a)
ManyToMany
Rice
(Oryza sativa)
Liliopsida Os.2673 29
Species where no ortholog for YWHAQ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 YWHAQ Gene

ENSEMBL:
Gene Tree for YWHAQ (if available)
TreeFam:
Gene Tree for YWHAQ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for YWHAQ: view image
Alliance of Genome Resources:
Additional Orthologs for YWHAQ

Paralogs for YWHAQ Gene

Paralogs for YWHAQ Gene

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

  • 1433T_HUMAN
  • E9PG15_HUMAN
  • Q53RR5_HUMAN
  • Q53S41_HUMAN
genes like me logo Genes that share paralogs with YWHAQ: view

Variants for YWHAQ Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for YWHAQ Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1011802 CNV gain 25217958
nsv214045 CNV deletion 16902084
nsv580915 CNV gain 21841781
nsv963210 CNV duplication 23825009

Variation tolerance for YWHAQ Gene

Residual Variation Intolerance Score: 23.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for YWHAQ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
YWHAQ
Leiden Open Variation Database (LOVD)
YWHAQ

SNP Genotyping and Copy Number Assays for research

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 YWHAQ Gene

Disorders for YWHAQ Gene

MalaCards: The human disease database

(11) MalaCards diseases for YWHAQ Gene - From: COP and GCD

Disorder Aliases PubMed IDs
creutzfeldt-jakob disease
  • cjd
alzheimer disease 10
  • alzheimer disease, familial, 10
cerebral amyloid angiopathy, cst3-related
  • amyloidosis, cerebroarterial, icelandic type
anterior cerebral artery infarction
  • infarction, anterior cerebral artery
pick disease of brain
  • lobar atrophy of brain
- elite association - COSMIC cancer census association via MalaCards
Search YWHAQ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for YWHAQ

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with YWHAQ: view

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

Publications for YWHAQ Gene

  1. A 14-3-3 mRNA is up-regulated in amyotrophic lateral sclerosis spinal cord. (PMID: 11080204) Malaspina A … de Belleroche J (Journal of neurochemistry 2000) 2 3 4
  2. An inflammatory bowel disease-risk variant in INAVA decreases pattern recognition receptor-induced outcomes. (PMID: 28436939) Yan J … Abraham C (The Journal of clinical investigation 2017) 3 4
  3. Front-signal-dependent accumulation of the RHOA inhibitor FAM65B at leading edges polarizes neutrophils. (PMID: 25588844) Gao K … Wu D (Journal of cell science 2015) 3 4
  4. 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
  5. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PMID: 18950845) Vega A … Carracedo A (Gynecologic oncology 2009) 3 40

Products for YWHAQ Gene

Sources for YWHAQ Gene