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MGP003006

UniProt Annotations

Entry Information
Gene Namesignal transducer and activator of transcription 5B
Protein EntrySTA5B_HUMAN
UniProt IDP51692
SpeciesHuman
Comments
Comment typeDescription
DiseaseGrowth hormone insensitivity with immunodeficiency (GHII) [MIM:245590]: A disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to hexogeneous growth hormone therapy, and recurrent infections. {ECO:0000269|PubMed:13679528, ECO:0000269|PubMed:15827093, ECO:0000269|PubMed:22419735}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCarries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. {ECO:0000269|PubMed:11773439}.
InteractionQ96EY1:DNAJA3; NbExp=2; IntAct=EBI-1186119, EBI-356767; Q13287:NMI; NbExp=7; IntAct=EBI-1186119, EBI-372942;
PtmTyrosine 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. Phosphoryation at Tyr-699 by PTK6 or HCK leads to an increase of its transcriptional activity. Dephosphorylation on tyrosine residues by PTPN2 negatively regulates prolactin signaling pathway. {ECO:0000269|PubMed:11773439, ECO:0000269|PubMed:12411494, ECO:0000269|PubMed:14504097, ECO:0000269|PubMed:15121872, ECO:0000269|PubMed:16964243, ECO:0000269|PubMed:17997837, ECO:0000269|PubMed:18691976, ECO:0000269|PubMed:19690332, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:21135090, ECO:0000269|PubMed:9428692}.
SimilarityBelongs to the transcription factor STAT family. {ECO:0000305}.
SimilarityContains 1 SH2 domain. {ECO:0000255|PROSITE- ProRule:PRU00191}.
Subcellular LocationCytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Translocated into the nucleus in response to phosphorylation. {ECO:0000250}.
SubunitForms a homodimer or a heterodimer with a related family member. Binds NR3C1 (By similarity). Interacts with NCOA1, NMI and SOCS7. Interacts (via SH2 domain) with INSR. {ECO:0000250, ECO:0000269|PubMed:12954634, ECO:0000269|PubMed:15677474, ECO:0000269|PubMed:9428692, ECO:0000269|PubMed:9989503}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/STAT5BID217ch17q21.html";
Web ResourceName=STAT5Bbase; Note=STAT5B mutation db; URL="http://structure.bmc.lu.se/idbase/STAT5Bbase/";
Web ResourceName=Wikipedia; Note=STAT5 entry; URL="http://en.wikipedia.org/wiki/STAT5";
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