Free for academic non-profit institutions. Other users need a Commercial license
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]
STAT1 (Signal Transducer And Activator Of Transcription 1) is a Protein Coding gene. Diseases associated with STAT1 include Immunodeficiency 31A and Immunodeficiency 31C. Among its related pathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and Interleukin-11 Signaling Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein homodimerization activity. An important paralog of this gene is STAT4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 18035482 |
GO:0000979 | RNA polymerase II core promoter sequence-specific DNA binding | IDA | 23386060 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA,ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IBA | 21873635 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA,ISA | -- |
GO:0005634 | colocalizes_with nucleus | IEA,IDA | 26479788 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 10692450 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways |
Immune response IL-9 signaling pathway
.42
IL-9 Pathway
.36
|
|
2 | Toll-like Receptor Signaling Pathway |
.37
.34
|
|
3 | Th17 cell differentiation |
Immune response IL-22 signaling pathway
.36
IL-22 Pathway
.01
|
|
4 | Immune response IL-23 signaling pathway |
Development PDGF signaling via STATs and NF-kB
.44
Immune response IL-23 signaling pathway
.44
Development Angiopoietin - Tie2 signaling
.38
|
Immune response IL-10 signaling pathway
.36
|
5 | Prolactin Signaling Pathway |
Development Prolactin receptor signaling
.38
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
GO:0001937 | negative regulation of endothelial cell proliferation | IMP | 16585190 |
GO:0002053 | positive regulation of mesenchymal cell proliferation | ISS | -- |
GO:0002230 | positive regulation of defense response to virus by host | IMP | 26479788 |
GO:0003340 | negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Fludarabine | Approved | Pharma | DNA synthsis inhibitor | 1533,1533 | ||
Methimazole | Approved | Pharma | ICAM-1 inhibitor | 23 | ||
Niclosamide | Approved, Investigational, Vet_approved | Pharma | STAT3 inhibitor; also inhibits mTORC1 signaling | 16 | ||
Nifuroxazide | Experimental | Pharma | Antidiarrheal agent | 0 | ||
Sulforaphane | Investigational | Pharma | 63 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Fludarabine | DNA synthsis inhibitor | 21679-14-1 |
Fludarabine Phosphate (Fludara) | Inhibits STAT1 activation and DNA synthesis | 75607-67-9 |
Methimazole | ICAM-1 inhibitor | 60-56-0 |
Niclosamide | 50-65-7 | |
Nifuroxazide | Antidiarrheal agent | 965-52-6 |
SH-4-54 | STAT inhibitor, potent | 1456632-40-8 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | · | 23c | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26 | ^ | 27 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | |||||||||||||||||||
SP7: | |||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||
SP10: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | STAT1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | STAT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC488449 30 |
|
||
STAT1 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Stat1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | STAT1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Stat1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | STAT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | STAT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | STAT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | stat1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398324 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | stat1a 30 31 |
|
OneToMany | |
stat1b 31 |
|
OneToMany | |||
stat1 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11900 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
642183 | Uncertain Significance: Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a | 190,978,985(-) | T/C | MISSENSE_VARIANT | |
643417 | Likely Pathogenic: Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a | 190,991,295(-) | A/G | MISSENSE_VARIANT | |
644852 | Uncertain Significance: Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a | 190,986,907(-) | T/C | MISSENSE_VARIANT | |
647392 | Uncertain Significance: Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a | 190,984,307(-) | T/C | INTRON_VARIANT | |
647487 | Uncertain Significance: Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a | 190,995,071(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency 31a |
|
|
immunodeficiency 31c |
|
|
immunodeficiency 31b |
|
|
chronic mucocutaneous candidiasis |
|
|
bronchiectasis |
|
|