STAT5B phospho S731
Function
Carries out a dual function: signal transduction and activation of transcription (PubMed:29844444). Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation.
Involvement in disease
Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive
GHISID1
An autosomal recessive form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. Most, but not all, patients have features of immune dysregulation.
None
The disease is caused by variants affecting the gene represented in this entry.
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
GHISID2
An autosomal dominant form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. GHISID2 patients usually have delayed bone age, delayed puberty, and decreased serum IGF1. Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Tyrosine phosphorylated in response to signaling via activated KIT, resulting in translocation to the nucleus. Tyrosine phosphorylated in response to signaling via activated FLT3; wild-type FLT3 results in much weaker phosphorylation than constitutively activated mutant FLT3. Alternatively, can be phosphorylated by JAK2. Phosphorylation at Tyr-699 by PTK6 or HCK leads to an increase of its transcriptional activity.
Sequence Similarities
Belongs to the transcription factor STAT family.
Cellular localization
- Cytoplasm
- Nucleus
- Translocated into the nucleus in response to phosphorylation.
Alternative names
Signal transducer and activator of transcription 5B, STAT5B
Database links
Other research areas
- Immunology & Infectious Disease