Version: 8.0.0Date: Tue Jan 28 2025
Gene
STAT1
- Species
- Homo sapiens
- Symbol
- STAT1
- Name
- signal transducer and activator of transcription 1
- Synonyms
- CANDF7
- DKFZp686B04100
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; enzyme binding activity; and transcription coregulator binding activity. Involved in several processes, including cellular response to cytokine stimulus; negative regulation by virus of viral protein levels in host cell; and positive regulation of macromolecule biosynthetic process. Located in several cellular components, including chromatin; nuclear lumen; and perinuclear region of cytoplasm. Part of ISGF3 complex. Is active in nucleus. Implicated in adenocarcinoma (multiple); breast carcinoma; immunodeficiency 31A; immunodeficiency 31B; and immunodeficiency 31C. Biomarker of several diseases, including angiomyolipoma; gastric adenocarcinoma; hepatitis C; lymphangioleiomyomatosis; and nephroblastoma.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11801
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr2:190908460...191020960 - (112.50 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.