STAT1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | STAT1 |
| Official Name | signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] |
| Ensembl ID | ENSG00000115415 |
| Bio databases IDs | |
| Aliases | signal transducer and activator of transcription 1, transcription factor ISGF-3 components p91/p84 |
| Synonyms | 2010005J02Rik, CANDF7, DD6G4-4, IMD31A, IMD31B, IMD31C, ISGF-3, p91, signal transducer and activator of transcription 1, STAT1 alpha, Stat1 beta, Stat1 p91, STAT1 α, Stat1 β, STAT91, TRANSCRIPTION FACTOR SIGNAL TRANSDUCER and ACTIVATOR |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human STAT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- Sumoylation motif
- CCR chemokine receptor binding
- STAT protein, DNA binding domain
- transcription activation domain
- transcription factor binding
- coiled-coil domain
- chromatin binding
- Y domain
- identical protein binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- STAT_CCD
- STAT1 TAZ2 binding domain
- Src homology 2 (SH2) domain
- histone acetyltransferase binding
- STAT protein, protein interaction domain
- histone binding
- activation domain
- leucine rich domain
- ligand-dependent nuclear receptor interactor
- nuclear export signal
- tumor necrosis factor receptor binding
- DNA binding domain
- nucleic acid binding
- BRCA1-binding domain
- protein phosphatase binding
- nuclear localization sequence
- enzyme binding
- linker domain
- protein binding
- sequence-specific DNA binding
- STAT protein, all-alpha domain
- DNA binding
- phosphorylation site
- double-stranded DNA binding
- protein homodimerization
- ERK phosphorylation site
- transcription factor activity
- DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)
- tyrosine phosphorylation site
Pathways
Biological processes and signaling networks where the STAT1 gene in human plays a role, providing insight into its function and relevance in health or disease.
- CNTF Signaling
- Dendritic Cell Maturation
- EGF Signaling
- Glucocorticoid Receptor Signaling
- GM-CSF Signaling
- Growth Hormone Signaling
- IL-15 Production
- IL-22 Signaling
- IL-3 Signaling
- IL-7 Signaling Pathway
- IL-9 Signaling
- iNOS Signaling
- Interferon Signaling
- JAK/Stat Signaling
- Oncostatin M Signaling
- Role of Hypercytokinemia/hyperchemokinemia in the Pathogenesis of Influenza
- Role of JAK1 and JAK3 in γc Cytokine Signaling
- Role of JAK1, JAK2 and TYK2 in Interferon Signaling
- Role of JAK2 in Hormone-like Cytokine Signaling
- Role of PKR in Interferon Induction and Antiviral Response
- T Helper Cell Differentiation
- Th1 Pathway
- Thrombopoietin Signaling
- UVA-Induced MAPK Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- infection
- pneumonia
- epithelial neoplasia
- insulin-dependent diabetes mellitus
- systemic lupus erythematosus
- tuberculosis
- chronic kidney disease
- colorectal cancer
- proteinuria
role in cell
- activation
- growth
- expression in
- phosphorylation in
- invasion by
- inhibition
- migration
- activation in
- number
- production in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- plasma membrane fraction
- nuclear fraction
- raft fractions
- detergent-insoluble fractions
- membrane fraction
- Cytoplasm
- perinuclear region
- Golgi Apparatus
- cytosol
- nucleoplasm
- nucleoli
- neuromuscular junctions
- membrane rafts
- chromatin
- perikaryon
- axons
- dendrites
- cytoplasmic fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human STAT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to cytokine stimulus
- negative regulation of angiogenesis
- interleukin-9-mediated signaling pathway
- response to cAMP
- response to xenobiotic stimulus
- negative regulation of I-kappaB kinase/NF-kappaB cascade
- endothelial cell migration
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of erythrocyte differentiation
- response to mechanical stimulus
- JAK-STAT cascade
- positive regulation of smooth muscle cell proliferation
- negative regulation of transcription from RNA polymerase II promoter
- cellular response to insulin stimulus
- positive regulation of interferon-alpha production
- metanephric mesenchymal cell differentiation
- positive regulation of transcription, DNA-dependent
- defense response to virus
- negative regulation of metanephric nephron tubule epithelial cell differentiation
- response to interferon-beta
- interleukin-27-mediated signaling pathway
- cellular response to interferon-beta
- interferon-gamma-mediated signaling pathway
- response to interferon-gamma
- blood circulation
- response to nutrient
- positive regulation of mesenchymal cell proliferation
- regulation of apoptotic process
- negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
- positive regulation of defense response to virus by host
- response to hydrogen peroxide
- defense response
- negative regulation of viral protein levels in host cell
- response to peptide hormone stimulus
- regulation of cell proliferation
- renal tubule development
- regulation of transcription from RNA polymerase II promoter
- type I interferon-mediated signaling pathway
- tumor necrosis factor-mediated signaling pathway
- positive regulation of nitric-oxide synthase biosynthetic process
- metanephric mesenchymal cell proliferation involved in metanephros development
- macrophage derived foam cell differentiation
- negative regulation of endothelial cell proliferation
- cellular response to interferon-gamma
- cellular response to organic cyclic compound
Cellular Component
Where in the cell the gene product is active
- nucleus
- dendrite
- perinuclear region of cytoplasm
- cytoplasm
- ISGF3 complex
- cytosol
- macromolecular complex
- nucleolus
- chromatin
- axon
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- histone acetyltransferase binding
- ligand-dependent nuclear receptor binding
- protein homodimerization activity
- RNA polymerase II core promoter sequence-specific DNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- double-stranded DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- tumor necrosis factor receptor binding
- small conjugating protein ligase binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription coactivator binding
- transcription corepressor binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- histone binding
- cadherin binding
- protein phosphatase 2A binding
- CCR5 chemokine receptor binding
- enzyme binding