RBCC Red Blood Cell Collection

STA5B_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: STAT5B
Protein names and data: STA5B_HUMAN , Signal transducer and activator of transcription 5B Lenght: 787 a.a.
Mass: 89866 Da
fasta formatted sequence
Function: Carries 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.
Disease: ( OMIM: 245590 604260 ) Growth 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm (By similarity). Nucleus (By similarity). Note=Translocated into the nucleus in response to phosphorylation (By similarity).

Genetic variants

130 - 130 A -> V (in dbSNP:rs2277619). VAR_052074 2277619
630 - 630 A -> P (in GHII; affects activation by growth hormone or interferon-gamma). VAR_018728
646 - 646 F -> S (in GHII; transcriptionally inactive). VAR_067368

Database cross-references

UniProt: P51692
Ensembl: ENST00000293328
MIM: 245590
MIM: 604260
neXtProt: NX_P51692
Antibodypedia: P51692 (may not find the protein thus also not any antibody)
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