STAT1 deficiency

Gene Information


HUGO name: STAT1


  • STAT91
  • signal transducer and activator of transcription 1, 91kD
  • signal transducer and activator of transcription 1, 91kDa
  • Signal transducer and activator of transcription 1-alpha/beta
  • Transcription factor ISGF-3 components p91/p84


Reference sequences

Chromosomal location


Protein Information


Protein function:

Transcription factor that binds to the IFN-stimulated response element (ISRE) and to the GAS element. This multiprotein transcription factor is termed ISGF3.


In response to IFN alpha/beta, three subunits (STAT1-alpha, STAT1-beta, STAT2) of ISGF3, become phosphorylated on tyrosine, migrate into the nucleus, and assemble into a complex together with ISGF3 gamma (p48), a DNA-binding protein that specifically binds to the IFN-stimulated response element. In response to IFN gamma, STAT1 forms homodimers, that also translocate into the nucleus to activate IFN gamma-responsive genes. Interacts with NMI.

Subcellular location:

Nuclear; translocated into the nucleus in response to phosphorylation.

Post-translational modification:

Tyrosine phosphorylated in response to IFN-gamma, IFN-alpha, pdgf, and egf. Serine phosphorylation is also required for maximal transcriptional activity (lacking in beta form).

Structures (PDB)

1BF5 Stat-1 DNA Complex


Expression pattern for human

Tissue Expression (%) Clones
melanotic melanoma, high MDR 8.74 21:7325
mammary gland 4.44 2:1374
hypernephroma 4.24 9:6468
poorly-differentiated endometrial adenocarcinoma, 2 pooled tumors 3.26 9:8405
normal endometrium, mid-secretory phase, cycle day 23 2.96 1:1028
glioblastoma with probably TP53 mutation and without EGFR amplification 2.95 1:1033
serous papillary carcinoma, high grade, 2 pooled tumors 2.92 15:15638
thyroid gland 2.71 1:1123
kidney 2.68 1:1137
olfactory epithelium 2.42 1:1261

Animal models