YWHAG
Function
Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways (PubMed:15696159, PubMed:16511572, PubMed:36732624). Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif (PubMed:15696159, PubMed:16511572, PubMed:36732624). Binding generally results in the modulation of the activity of the binding partner (PubMed:16511572). Promotes inactivation of WDR24 component of the GATOR2 complex by binding to phosphorylated WDR24 (PubMed:36732624). Participates in the positive regulation of NMDA glutamate receptor activity by promoting the L-glutamate secretion through interaction with BEST1 (PubMed:29121962). Reduces keratinocyte intercellular adhesion, via interacting with PKP1 and sequestering it in the cytoplasm, thereby reducing its incorporation into desmosomes (PubMed:29678907).
Involvement in disease
Developmental and epileptic encephalopathy 56
DEE56
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE56 is an autosomal dominant condition.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by various PKC isozymes.
Sequence Similarities
Belongs to the 14-3-3 family.
Tissue Specificity
Highly expressed in brain, skeletal muscle, and heart.
Cellular localization
- Cytoplasm
Alternative names
14-3-3 protein gamma, Protein kinase C inhibitor protein 1, KCIP-1, YWHAG