Signal transducer and activator of transcription 1-alpha/beta
The STAT1 gene encodes a transcription factor that is activated by various cytokines including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. Mutations cause autosomal dominant and recessive forms of immunodeficiency.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Takeda A et al. (2003) Cutting edge: role of IL-27/WSX-1 signaling for induction of T-bet through activation of STAT1 during initial Th1 commitment.
|
2. |
Meraz MA et al. (1996) Targeted disruption of the Stat1 gene in mice reveals unexpected physiologic specificity in the JAK-STAT signaling pathway.
|
3. |
Durbin JE et al. (1996) Targeted disruption of the mouse Stat1 gene results in compromised innate immunity to viral disease.
|
4. |
Chen X et al. (1998) Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA.
|
5. |
Kaplan DH et al. (1998) Demonstration of an interferon gamma-dependent tumor surveillance system in immunocompetent mice.
|
6. |
Haddad B et al. (1998) Assignment1 of STAT1 to human chromosome 2q32 by FISH and radiation hybrids.
|
7. |
Ramana CV et al. (2000) Complex roles of Stat1 in regulating gene expression.
|
8. |
Mowen KA et al. (2001) Arginine methylation of STAT1 modulates IFNalpha/beta-induced transcription.
|
9. |
Shankaran V et al. (2001) IFNgamma and lymphocytes prevent primary tumour development and shape tumour immunogenicity.
|
10. |
Wang J et al. (2002) STAT1 deficiency unexpectedly and markedly exacerbates the pathophysiological actions of IFN-alpha in the central nervous system.
|
11. |
Hikasa M et al. (2003) p21waf1/cip1 is down-regulated in conjunction with up-regulation of c-Fos in the lymphocytes of rheumatoid arthritis patients.
|
12. |
Kosaka H et al. (2008) Interferon-gamma is a therapeutic target molecule for prevention of postoperative adhesion formation.
|
13. |
Takeuchi K et al. (2003) Measles virus V protein blocks interferon (IFN)-alpha/beta but not IFN-gamma signaling by inhibiting STAT1 and STAT2 phosphorylation.
|
14. |
Kim S et al. (2003) Stat1 functions as a cytoplasmic attenuator of Runx2 in the transcriptional program of osteoblast differentiation.
|
15. |
Rodriguez JJ et al. (2003) Hendra virus V protein inhibits interferon signaling by preventing STAT1 and STAT2 nuclear accumulation.
|
16. |
Wesemann DR et al. (2004) TRADD interacts with STAT1-alpha and influences interferon-gamma signaling.
|
17. |
Xiao L et al. (2004) Stat1 controls postnatal bone formation by regulating fibroblast growth factor signaling in osteoblasts.
|
18. |
Rosenzweig SD et al. (2005) Defects in the interferon-gamma and interleukin-12 pathways.
|
19. |
Hartman SE et al. (2005) Global changes in STAT target selection and transcription regulation upon interferon treatments.
|
20. |
Chapgier A et al. (2006) Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
|
21. |
Xu W et al. (2014) Ebola virus VP24 targets a unique NLS binding site on karyopherin alpha 5 to selectively compete with nuclear import of phosphorylated STAT1.
|
22. |
Leopold Wager CM et al. (2014) STAT1 signaling is essential for protection against Cryptococcus neoformans infection in mice.
|
23. |
Copeland NG et al. (1995) Distribution of the mammalian Stat gene family in mouse chromosomes.
|
24. |
Spagnoli A et al. (2002) Identification of STAT-1 as a molecular target of IGFBP-3 in the process of chondrogenesis.
|
25. |
Braumüller H et al. (2013) T-helper-1-cell cytokines drive cancer into senescence.
|
26. |
Ihle JN et al. (1995) Jaks and Stats in signaling by the cytokine receptor superfamily.
|
27. |
Dupuis S et al. (2001) Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.
|
28. |
Tsumura M et al. (2012) Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.
|
29. |
Yamamoto K et al. (1997) cDNA cloning, expression and chromosome mapping of the human STAT4 gene: both STAT4 and STAT1 genes are mapped to 2q32.2-->q32.3.
|
30. |
Dupuis S et al. (2003) Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.
|
31. |
Chapgier A et al. (2006) Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo.
|
32. |
Kong XF et al. (2010) A novel form of human STAT1 deficiency impairing early but not late responses to interferons.
|
33. |
van de Veerdonk FL et al. (2011) STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.
|
34. |
Liu L et al. (2011) Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
|
35. |
Smeekens SP et al. (2011) STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.
|
36. |
Uzel G et al. (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
|
37. |
Sampaio EP et al. (2013) Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
|
38. |
Soltész B et al. (2013) New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.
|
39. |
Yamazaki Y et al. (2014) Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
|
40. |
Schindler C et al. (1992) Proteins of transcription factor ISGF-3: one gene encodes the 91-and 84-kDa ISGF-3 proteins that are activated by interferon alpha.
|
41. |
Fu XY et al. (1990) ISGF3, the transcriptional activator induced by interferon alpha, consists of multiple interacting polypeptide chains.
|
42. |
None (1995) Cytokine receptor signalling.
|
43. |
Darnell JE et al. (1994) Jak-STAT pathways and transcriptional activation in response to IFNs and other extracellular signaling proteins.
|
44. |
None (1996) STATs: signal transducers and activators of transcription.
|
45. |
NCBI article
NCBI 6772
|
46. |
OMIM.ORG article
Omim 600555
|
47. |
Orphanet article
Orphanet ID 119879
|
48. |
Wikipedia article
Wikipedia EN (STAT1)
|
Update: Aug. 14, 2020