Gene Symbol | STAT1 |
Entrez Gene ID | 6772 |
Full Name | signal transducer and activator of transcription 1 |
Synonyms | CANDF7,IMD31A,IMD31B,IMD31C,ISGF-3,STAT91 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a member of the STAT protein family. 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. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. 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. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3); Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3); Immunodeficiency 31C, autosomal dominant, 614162 (3) |