STAT1

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. The protein encoded by this gene 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. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]

该基因编码的蛋白质属于STAT蛋白家族。在细胞因子和生长因子的作用下，STAT家族成员被受体关联激酶磷酸化，随后形成同源或异源二聚体，转移到细胞核中，在那里它们充当转录激活因子。该基因编码的蛋白质可被包括干扰素-α、干扰素-γ、EGF、PDGF和IL6在内的多种配体激活。该蛋白质介导多种基因的表达，被认为对细胞对不同细胞刺激和病原体的反应中的细胞存活至关重要。该蛋白质在应对病毒、真菌和分枝杆菌病原体的免疫反应中发挥着重要作用。该基因的突变与免疫缺陷31B、31A和31C相关。[由RefSeq提供，2020年6月]