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STAT1

MIM.600555 2q32.2-q32.3

Friday 9 May 2008

The multiprotein complex ISGF3 (MIM.147574) binds to a 15-bp element, designated the ISRE (interferon-stimulated response element), that is different from the GAS element.

Alpha-interferon stimulates transcription by converting the positive transcriptional regulator ISGF3 from a latent to an active form.

Four proteins of 48 (ISGF3G) (MIM.147574), 84, 91, and 113 kD (STAT2) make up the ISGF3 complex. The 91- and 84-kD components arise from 2 differently processed RNA products derived from 1 gene (STAT1).

Comparison of the sequences of the 113-kD and the 91/84-kD proteins revealed that they are encoded by closely related but distinct genes.

Pathology

- germline mutations in

  • disseminated BCG infection (MIM.209950)
  • complete STAT1 deficiency
    • HSV1-associated encephalitis
    • disseminated BCG vaccine infection (MIM.209950)

- Stat1 and CD74 overexpression is co-dependent and linked to increased invasion and lymph node metastasis in triple-negative breast cancer. (#22178447#)

References

- Stat1 and CD74 overexpression is co-dependent and linked to increased invasion and lymph node metastasis in triple-negative breast cancer. Greenwood C, Metodieva G, Al-Janabi K, Lausen B, Alldridge L, Leng L, Bucala R, Fernandez N, Metodiev MV. J Proteomics. 2011 Dec 8. PMID: #22178447#

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