GeneID: 293



Names

Common Name: STAT1 Type: Gene
Chromosome: 2 (NC_000002.12) Locus: NG_008294.1 (STAT1)
HUGO Symbol: STAT1 Full Name: signal transducer and activator of transcription 1
Exons: 25 Introns: 24

Description:
The protein encoded by this gene is a member of the STAT protein family. The JAK/STAT pathway is an extensive signalling pathway downstream of cytokine receptors. STATs are cytosolic proteins with a common structure consisting of an N-terminal oligomerization domain, which favors formation of STAT dimers, followed by a DNA-binding domain and a C-terminal SRC homology-2 (SH2) domain, which is involved in association between STATs and receptors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. STAT1 is critical in signal transduction from both the type I interferons IFNα and IFNβ and the type II interferon IFNγ. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Variations in this gene associated with acute chest syndrome (ACS) in patients with sickle cell disease. ACS is a form of acute lung injury caused by vaso-occlusion within the pulmonary microvasculature. Etiologies either trigger vaso-occlusion (e.g., infection, asthma, hypoventilation) or are a result of vaso-occlusion (e.g., bone marrow and fat emboli).

Synonyms: STAT91 , ISGF-3

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Melton CW, Haynes J, Sickle acute lung injury: role of prevention and early aggressive intervention strategies on outcome., Clin. Chest Med., 27(3), 487-502, vii, 2006 PubMed
  2. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
  3. Seif F, Khoshmirsafa M, Aazami H, Mohsenzadegan M, Sedighi G, Bahar M, The role of JAK-STAT signaling pathway and its regulators in the fate of T helper cells., Cell Commun. Signal, 15(1), 23, 2017 PubMed
Created on 2019-10-02 16:53:24, Last reviewed on (Show full history)


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