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Gene Symbol |
YWHAQ |
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Aliases |
14-3-3, 1C5, HS1 |
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Entrez Gene ID |
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Gene Name |
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta |
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Chromosomal Location |
2p25.1 |
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HGNC ID |
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Summary |
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]
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e!Ensembl
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Gene Ontology (GO)
| GO ID |
Ontology |
Function |
Evidence |
Reference |
| GO:0021762 |
Biological process |
Substantia nigra development |
HEP |
22926577 |
| GO:0045892 |
Biological process |
Negative regulation of transcription, DNA-templated |
IDA |
15163635 |
| GO:0005737 |
Cellular component |
Cytoplasm |
IDA |
15163635 |
| GO:0005925 |
Cellular component |
Focal adhesion |
HDA |
21423176 |
| GO:0016020 |
Cellular component |
Membrane |
HDA |
19946888 |
| GO:0032991 |
Cellular component |
Protein-containing complex |
IDA |
22797923 |
| GO:0070062 |
Cellular component |
Extracellular exosome |
HDA |
19056867, 19199708, 20458337 |
| GO:0005515 |
Molecular function |
Protein binding |
IPI |
7760835, 8663231, 9092538, 10954706, 11697890, 15094368, 15196694, 15657067, 15660133, 16775625, 16868027, 17085597, 17620599, 18458160, 19172738, 19289404, 19371722, 19559006, 19640509, 19860830, 20029029, 20600589, 20642453, 20936779, 21988832, 23075850, 23572552, 23622247, 241894 |
| GO:0042802 |
Molecular function |
Identical protein binding |
IPI |
17085597 |
| GO:0047485 |
Molecular function |
Protein N-terminus binding |
IPI |
11984006 |
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| Protein Information |
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Protein Name |
14-3-3 protein theta, 14-3-3 protein T-cell, 14-3-3 protein tau, 14-3-3 theta, protein, theta, tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide |
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Function |
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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. |
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UniProt |
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PDB |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF00244 |
14-3-3 |
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
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| Musculoskeletal Diseases |
| Osteoarthrosis Deformans |
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| Arthritis |
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References |
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| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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Apoptosis, coagulation, oxidative stress, lipid metabolism, the cytoskeleton, inflammatory and immune responses. Each of these biological functions absolutely play important roles in endometrial receptivity. |
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Rotterdam ESHRE/ ASRM- sponsored PCOS consesus. |
Direct
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12 PCOS patients and 12 Healthy females |
Differences in the endometrial proteome of women with PCOS compared with healthy fertile women may explain the poor reproductive outcomes in PCOS women. Identified proteins are mainly involved in apoptosis, coagulation, oxidative stress, lipid metabolism, the cytoskeleton, inflammatory and immune responses. Each of these biological functions absolutely play important roles in endometrial receptivity. |
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