YWHAQ
Description
The YWHAQ (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta) is a protein-coding gene located on chromosome 2.
YWHAQ (14-3-3 protein theta) is a protein encoded by the YWHAQ gene in humans. It belongs to the 14-3-3 family of proteins, which are known to mediate signal transduction by binding to phosphorylated proteins containing phosphoserine. This highly conserved protein family is found in both plants and mammals, and YWHAQ shares a high degree of similarity (99% identity) with its mouse and rat counterparts. YWHAQ expression is elevated in patients with amyotrophic lateral sclerosis (ALS). Its 5' UTR contains a polymorphic 6 bp tandem repeat sequence, but there is no established link between the repeat number and the disease.
YWHAQ, also known as 14-3-3 protein theta, is an adapter protein that plays a crucial role in regulating a wide range of signaling pathways, both general and specialized. It achieves this by binding to a diverse array of partner proteins, typically recognizing phosphoserine or phosphothreonine motifs within these partners. This binding interaction often leads to modulation of the activity of the bound partner protein. YWHAQ is known to negatively regulate the kinase activity of PDPK1.
YWHAQ is also known as 14-3-3, 1C5, HS1.
Associated Diseases
- COVID-19
- retinitis pigmentosa
- X-linked retinal dysplasia
- severe early-childhood-onset retinal dystrophy
- reticular dystrophy of the retinal pigment epithelium
- choroidal dystrophy, central areolar, 1
- age related macular degeneration 11
