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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 Tau 3 4
  • Protein, Theta 2 3
  • 14-3-3 Protein Theta 3
  • Protein Tau 2
  • Protein HS1 4
  • 14-3-3 3
  • HS1 3
  • 1C5 3

External Ids for YWHAQ Gene

Previous GeneCards Identifiers for YWHAQ Gene

  • GC02M009507
  • GC02M009775
  • GC02M009745
  • GC02M009674
  • 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 Ideomotor Apraxia. Among its related pathways are mTOR Pathway and CNTF Signaling. 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 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 , fRNAdb sequence ontologies and piRNA Summary for YWHAQ Gene

Genomics for YWHAQ Gene

Regulatory Elements for YWHAQ Gene

Enhancers for YWHAQ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G009653 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.7 -25.5 -25477 6.0 PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZNF766 CBX5 FOS DEK ZNF263 YWHAQ RNU4-73P ENSG00000240960 ADAM17 LOC101929882 CPSF3 LOC105373419 LOC105373418
GH02G010429 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -801.8 -801806 5.8 HDGF PKNOX1 FOXA2 ARNT AGO1 ARID4B SIN3A YBX1 FEZF1 ZBTB7B C2orf48 YWHAQ ENSG00000233502 CYS1 IAH1 LOC101929882 SNORA80B GC02M010446 PIR41580
GH02G009981 1.4 ENCODE dbSUPER 11.3 -351.8 -351777 1.9 HNRNPUL1 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF143 ZNF207 LOC101929882 YWHAQ CPSF3 GRHL1 PIR60135
GH02G009558 1.4 Ensembl ENCODE dbSUPER 9.9 +72.0 72032 1.9 BMI1 TCF12 SCRT2 FOS IKZF2 ZBTB11 USF2 ZNF426 ZEB2 TBX21 YWHAQ ENSG00000271855 ITGB1BP1 LOC101929643
GH02G010339 1.2 ENCODE dbSUPER 11.3 -710.5 -710471 3.4 HDGF PKNOX1 FOXA2 MLX ARID4B ZNF48 TCF12 GATA2 FOS SP5 HPCAL1 YWHAQ LOC101929691 SNORA80B PIR41580
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around YWHAQ on UCSC Golden Path with GeneCards custom track

Promoters for YWHAQ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000112614 855 2801 HNRNPUL1 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZBTB7B CBX5 ZNF143

Genomic Location for YWHAQ Gene

Chromosome:
2
Start:
9,583,967 bp from pter
End:
9,631,055 bp from pter
Size:
47,089 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).

    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 isoforms=3, isoforms=9, posLast=2727, isoforms=49, isoforms=74, and isoforms=139
  • Modification sites at PhosphoSitePlus

Other Protein References for YWHAQ Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for YWHAQ (14-3-3 theta)
  • Cloud-Clone Corp. Antibodies for YWHAQ

No data available for DME Specific Peptides for YWHAQ Gene

Domains & Families for YWHAQ Gene

Protein Domains for YWHAQ Gene

Suggested Antigen Peptide Sequences for YWHAQ Gene

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

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
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 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:0044325 ion channel binding IEA --
GO:0047485 protein N-terminus binding IPI 11984006
genes like me logo Genes that share ontologies with YWHAQ: view
genes like me logo Genes that share phenotypes with YWHAQ: view

Animal Model Products

CRISPR Products

miRNA for YWHAQ Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
extracellular 5
cytosol 5
mitochondrion 3
cytoskeleton 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for YWHAQ Gene

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

Pathways & Interactions for YWHAQ Gene

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

Pathways by source for YWHAQ Gene

SIGNOR curated interactions for YWHAQ Gene

Activates:
Inactivates:

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 IEP 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

(1) Drugs for YWHAQ Gene - From: ApexBio and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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

Transcripts for YWHAQ Gene

Unigene Clusters for YWHAQ Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
YWHAQ

Expression for YWHAQ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for YWHAQ Gene



Protein tissue co-expression partners for YWHAQ Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of YWHAQ Gene:

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)
  • Blood(4.8)
  • Skin(4.8)
  • Liver(4.5)
  • Pancreas(4.2)
  • Lung(3.7)
  • Eye(3.6)
  • Intestine(3.3)
  • Kidney(2.9)
  • Stomach(2.5)
  • Bone(2.2)
  • Heart(2.1)
  • Muscle(2.1)
  • Adrenal gland(2)
  • Gall bladder(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with YWHAQ: view

Primer Products

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 35
  • 100 (a)
LOC102634437 34
  • 93.88 (n)
chimpanzee
(Pan troglodytes)
Mammalia YWHAQ 34 35
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia YWHAQ 34 35
  • 95.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia YWHAQ 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia YWHAQ 34 35
  • 94.29 (n)
rat
(Rattus norvegicus)
Mammalia Ywhaq 34
  • 94.29 (n)
oppossum
(Monodelphis domestica)
Mammalia YWHAQ 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves YWHAQ 34 35
  • 88.03 (n)
lizard
(Anolis carolinensis)
Reptilia YWHAQ 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ywhaq 34
  • 72.38 (n)
zebrafish
(Danio rerio)
Actinopterygii ywhaqa 35
  • 82 (a)
OneToMany
ywhaqb 34 35
  • 75.92 (n)
Dr.1068 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2365 34
fruit fly
(Drosophila melanogaster)
Insecta 14-3-3zgr 36
  • 77 (a)
14-3-3zeta 35
  • 76 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ftt-2 35
  • 75 (a)
ManyToMany
par-5 35
  • 73 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.2673 34
Species where no ortholog for YWHAQ 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)
  • 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 squirt (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)

Paralogs for YWHAQ Gene

Variants for YWHAQ Gene

Sequence variations from dbSNP and Humsavar for YWHAQ Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000032984 -- 9,603,085(+) TTAAT(A/G)AAACA intron-variant
rs1000070568 -- 9,605,368(+) GAGCT(A/C)AAGTG intron-variant
rs1000114407 -- 9,623,491(+) AACCA(C/T)GGCCG intron-variant
rs1000156104 -- 9,608,691(+) CGCCT(A/G)TAATC intron-variant
rs1000176511 -- 9,591,229(+) AATCC(A/G)ATTTT intron-variant

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)

Relevant External Links for YWHAQ Gene

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

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

Disorders for YWHAQ Gene

MalaCards: The human disease database

(1) MalaCards diseases for YWHAQ Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ideomotor apraxia
  • classic apraxia [ambiguous]
- elite association - COSMIC cancer census association via MalaCards
Search YWHAQ in MalaCards View complete list of genes associated with diseases

Relevant External Links for YWHAQ

Genetic Association Database (GAD)
YWHAQ
Human Genome Epidemiology (HuGE) Navigator
YWHAQ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
YWHAQ
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. (J. Neurochem. 2000) 2 3 4 64
  2. ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding. (PMID: 23572552) Greninger A.L. … DeRisi J.L. (MBio 2013) 3 4 64
  3. SLITRK1 binds 14-3-3 and regulates neurite outgrowth in a phosphorylation-dependent manner. (PMID: 19640509) Kajiwara Y. … Grice D.E. (Biol. Psychiatry 2009) 3 4 64
  4. 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. (Gynecol. Oncol. 2009) 3 46 64
  5. Phosphorylation-dependent binding of 14-3-3 terminates signalling by the Gab2 docking protein. (PMID: 19172738) Brummer T. … Daly R.J. (EMBO J. 2008) 3 4 64

Products for YWHAQ Gene

Sources for YWHAQ Gene

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