Primary Identifier | MGI:103063 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 20846 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Enables DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; cell surface receptor signaling pathway via JAK-STAT; and defense response to symbiont. Acts upstream of or within several processes, including cell surface receptor signaling pathway; negative regulation of macrophage fusion; and response to exogenous dsRNA. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system gland; and skeletal musculature. Used to study breast cancer and severe acute respiratory syndrome. Human ortholog(s) of this gene implicated in adenocarcinoma (multiple); breast carcinoma; immunodeficiency 31A; immunodeficiency 31B; and immunodeficiency 31C. Orthologous to human STAT1 (signal transducer and activator of transcription 1). PHENOTYPE: Homozygotes for targeted null mutations are largely unresponsive to interferon, fail to thrive, are susceptible to viral diseases and cutaneous leishmaniasis, and show excess osteoclastogenesis leading to increased bone mass. [provided by MGI curators] |