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Aliases for STAT1 Gene

Aliases for STAT1 Gene

  • Signal Transducer And Activator Of Transcription 1, 91kDa 2 3
  • Transcription Factor ISGF-3 Components P91/P84 2 3 4
  • Signal Transducer And Activator Of Transcription 1, 91kD 2 3
  • CANDF7 3 6
  • Signal Transducer And Activator Of Transcription 1-Alpha/Beta 3
  • Signal Transducer And Activator Of Transcription-1 3
  • IMD31A 3
  • IMD31B 3
  • IMD31C 3
  • ISGF-3 3
  • STAT91 3

External Ids for STAT1 Gene

Summaries for STAT1 Gene

Entrez Gene Summary for STAT1 Gene

  • 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]

GeneCards Summary for STAT1 Gene

STAT1 (Signal Transducer And Activator Of Transcription 1, 91kDa) is a Protein Coding gene. Diseases associated with STAT1 include immunodeficiency 31a, mycobacteriosis, autosomal dominant and immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive. Among its related pathways are PI-3K cascade and Signaling by FGFR. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein homodimerization activity. An important paralog of this gene is STAT2.

UniProtKB/Swiss-Prot for STAT1 Gene

  • Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors. Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signaling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize and associate with ISGF3G/IRF-9 to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of IFN-stimulated genes (ISG), which drive the cell in an antiviral state. In response to type II IFN (IFN-gamma), STAT1 is tyrosine- and serine-phosphorylated. It then forms a homodimer termed IFN-gamma-activated factor (GAF), migrates into the nucleus and binds to the IFN gamma activated sequence (GAS) to drive the expression of the target genes, inducing a cellular antiviral state. Becomes activated in response to KITLG/SCF and KIT signaling. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4.

Gene Wiki entry for STAT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STAT1 Gene

Genomics for STAT1 Gene

Genomic Location for STAT1 Gene

Start:
190,964,358 bp from pter
End:
191,020,960 bp from pter
Size:
56,603 bases
Orientation:
Minus strand

Genomic View for STAT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for STAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAT1 Gene

Regulatory Elements for STAT1 Gene

Proteins for STAT1 Gene

  • Protein details for STAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42224-STAT1_HUMAN
    Recommended name:
    Signal transducer and activator of transcription 1-alpha/beta
    Protein Accession:
    P42224
    Secondary Accessions:
    • A8K989
    • B2RCA0
    • D2KFR8
    • D3DPI7
    • Q53S88
    • Q53XW4
    • Q68D00
    • Q9UDL5

    Protein attributes for STAT1 Gene

    Size:
    750 amino acids
    Molecular mass:
    87335 Da
    Quaternary structure:
    • Isoform alpha homodimerizes upon IFN-gamma induced phosphorylation. Heterodimer with STAT2 upon IFN-alpha/beta induced phosphorylation. The heterodimer STAT1:STAT2 forms the interferon-stimulated gene factor 3 complex (ISGF3) with IRF9. Interacts (phosphorylated at Ser 727) with PIAS1 (dimethylated on arginine); the interaction results in release of STAT1 from its target gene. Interacts with IFNAR1; the interaction requires the phosphorylation of IFNAR1 at Tyr-466. Interacts with IFNAR2, NMI, PTK2/FAK1 and SRC. Interacts with ERBB4 (phosphorylated). Interacts with Sendai virus C, C, Y1 and Y2 proteins, Nipah virus P, V and W proteins, and rabies virus phosphoprotein preventing activation of ISRE and GAS promoter. Interacts with HCV core protein; the interaction results in STAT1 degradation.

    Three dimensional structures from OCA and Proteopedia for STAT1 Gene

    Alternative splice isoforms for STAT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STAT1 Gene

Proteomics data for STAT1 Gene at MOPED

Post-translational modifications for STAT1 Gene

  • ISGylated.
  • Phosphorylated on tyrosine and serine residues in response to a variety of cytokines/growth hormones including IFN-alpha, IFN-gamma, PDGF and EGF. Activated KIT promotes phosphorylation on tyrosine residues and subsequent translocation to the nucleus. Upon EGF stimulation, phosphorylation on Tyr-701 (lacking in beta form) by JAK1, JAK2 or TYK2 promotes dimerization and subsequent translocation to the nucleus. Growth hormone (GH) activates STAT1 signaling only via JAK2. Tyrosine phosphorylated in response to constitutively activated FGFR1, FGFR2, FGFR3 and FGFR4. Phosphorylation on Ser-727 by several kinases including MAPK14, ERK1/2 and CAMKII on IFN-gamma stimulation, regulates STAT1 transcriptional activity. Phosphorylation on Ser-727 promotes sumoylation though increasing interaction with PIAS. Phosphorylation on Ser-727 by PRKCD induces apoptosis in response to DNA-damaging agents. Phosphorylated on tyrosine residues when PTK2/FAK1 is activated; most likely this is catalyzed by a SRC family kinase. Dephosphorylation on tyrosine residues by PTPN2 negatively regulates interferon-mediated signaling. Upon viral infection or IFN induction, phosphorylation on Ser-708 occurs much later than phosphorylation on Tyr-701 and is required for the binding of ISGF3 on the ISREs of a subset of IFN-stimulated genes IKBKE-dependent. Phosphorylation at Tyr-701 and Ser-708 are mutually exclusive, phosphorylation at Ser-708 requires previous dephosphorylation of Tyr-701.
  • Sumoylated with SUMO1, SUMO2 and SUMO3. Sumoylation is enhanced by IFN-gamma-induced phosphorylation on Ser-727, and by interaction with PIAS proteins. Enhances the transactivation activity.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys592 and Lys652

No data available for DME Specific Peptides for STAT1 Gene

Domains for STAT1 Gene

Gene Families for STAT1 Gene

HGNC:
  • SH2D :SH2 domain containing

Graphical View of Domain Structure for InterPro Entry

P42224

UniProtKB/Swiss-Prot:

STAT1_HUMAN
Domain:
  • Contains 1 SH2 domain.:
    • P42224
Family:
  • Belongs to the transcription factor STAT family.:
    • P42224
genes like me logo Genes that share domains with STAT1: view

Function for STAT1 Gene

Molecular function for STAT1 Gene

GENATLAS Biochemistry: signal transducer and activator of transcription 1,91kDa,activated during monocyte to macrophage differentiation as an early transcription factor initially activated by adherence and then able to modulate the expression of functional genes such as ICAM1 and FCGR1
UniProtKB/Swiss-Prot Function: Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors. Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signaling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize and associate with ISGF3G/IRF-9 to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of IFN-stimulated genes (ISG), which drive the cell in an antiviral state. In response to type II IFN (IFN-gamma), STAT1 is tyrosine- and serine-phosphorylated. It then forms a homodimer termed IFN-gamma-activated factor (GAF), migrates into the nucleus and binds to the IFN gamma activated sequence (GAS) to drive the expression of the target genes, inducing a cellular antiviral state. Becomes activated in response to KITLG/SCF and KIT signaling. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4.

Gene Ontology (GO) - Molecular Function for STAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 18035482
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 21268089
GO:0000983 RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity IDA 21268089
GO:0003677 DNA binding --
GO:0003690 double-stranded DNA binding IDA 9630226
genes like me logo Genes that share ontologies with STAT1: view
genes like me logo Genes that share phenotypes with STAT1: view

Animal Models for STAT1 Gene

MGI Knock Outs for STAT1:

miRNA for STAT1 Gene

Transcription Factor Targeting for STAT1 Gene

Selected GeneGlobe predicted Target genes for STAT1
Targeting motifs for STAT1 Gene
HOMER Transcription Factor Regulatory Elements motif STAT1
  • Consensus sequence: NATTTCCNGGAAAT Submotif: canonical Cell Type: HelaS3 GeoId: GSE12782

No data available for Enzyme Numbers (IUBMB) for STAT1 Gene

Localization for STAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAT1 Gene

Cytoplasm. Nucleus. Note=Translocated into the nucleus upon tyrosine phosphorylation and dimerization, in response to IFN-gamma and signaling by activated FGFR1, FGFR2, FGFR3 or FGFR4.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STAT1 Gene COMPARTMENTS Subcellular localization image for STAT1 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 2
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for STAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 18035482
GO:0005634 nucleus IDA 10692450
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with STAT1: view

Pathways for STAT1 Gene

genes like me logo Genes that share pathways with STAT1: view

Gene Ontology (GO) - Biological Process for STAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001937 negative regulation of endothelial cell proliferation IMP 16585190
GO:0002053 positive regulation of mesenchymal cell proliferation ISS --
GO:0003340 negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis ISS --
GO:0006351 transcription, DNA-templated --
genes like me logo Genes that share ontologies with STAT1: view

Compounds for STAT1 Gene

(5) ApexBio Compounds for STAT1 Gene

Compound Action Cas Number
Fludarabine Chemotherapy agent [21679-14-1]
NSC 74859 STAT3 inhibitor, binds to STAT3 SH2 domain, inhibits STAT3-DNA binding [501919-59-1]
SD 1008 JAK2/STAT3 signaling pathway inhibitor. [960201-81-4]
Stattic Small molecule inhibitor of STAT3 [19983-44-9]
WP1066 Cell permeable STAT3 inhibitor [857064-38-1]

(102) Novoseek inferred chemical compound relationships for STAT1 Gene

Compound -log(P) Hits PubMed IDs
ifn-alpha 81.5 55
tyrosine 81 191
gp 130 76.9 29
2,5-oligoadenylate 71.1 6
serine 57.3 105
genes like me logo Genes that share compounds with STAT1: view

Transcripts for STAT1 Gene

Unigene Clusters for STAT1 Gene

Signal transducer and activator of transcription 1, 91kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STAT1 Gene

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: -

Relevant External Links for STAT1 Gene

GeneLoc Exon Structure for
STAT1
ECgene alternative splicing isoforms for
STAT1

Expression for STAT1 Gene

mRNA expression in normal human tissues for STAT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for STAT1 Gene

SOURCE GeneReport for Unigene cluster for STAT1 Gene Hs.743244

genes like me logo Genes that share expressions with STAT1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for STAT1 Gene

Orthologs for STAT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for STAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STAT1 35
  • 99.49 (n)
  • 99.86 (a)
STAT1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia STAT1 35
  • 90.96 (n)
  • 96.49 (a)
STAT1 36
  • 57 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC488449 35
  • 90.44 (n)
  • 96.27 (a)
STAT1 36
  • 56 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stat1 35
  • 86.74 (n)
  • 93.59 (a)
Stat1 16
Stat1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STAT1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STAT1 36
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stat1 35
  • 87.27 (n)
  • 93.72 (a)
chicken
(Gallus gallus)
Aves STAT1 35
  • 76.24 (n)
  • 84.3 (a)
STAT1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STAT1 36
  • 42 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398324 35
tropical clawed frog
(Silurana tropicalis)
Amphibia stat1 35
  • 73.44 (n)
  • 80.64 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11900 35
zebrafish
(Danio rerio)
Actinopterygii stat1 35
stat1a 35
  • 63.6 (n)
  • 62.64 (a)
stat1a 36
  • 61 (a)
OneToMany
stat1b 36
  • 59 (a)
OneToMany
Species with no ortholog for STAT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for STAT1 Gene

ENSEMBL:
Gene Tree for STAT1 (if available)
TreeFam:
Gene Tree for STAT1 (if available)

Paralogs for STAT1 Gene

Paralogs for STAT1 Gene

genes like me logo Genes that share paralogs with STAT1: view

Variants for STAT1 Gene

Sequence variations from dbSNP and Humsavar for STAT1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs11305 -- 190,969,304(-) TAAAT(A/G)TAATA utr-variant-3-prime
rs908598 -- 191,006,561(+) CACTT(C/T)GGTAG intron-variant
rs952798 -- 191,002,121(+) CCCTA(A/G)CACTT intron-variant
rs1033248 -- 190,981,365(-) AGACT(C/G)CCTGA intron-variant
rs1400657 -- 190,968,814(-) ATTGG(A/C)AACAG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for STAT1 Gene

Variant ID Type Subtype PubMed ID
nsv834493 CNV Gain 17160897

Relevant External Links for STAT1 Gene

HapMap Linkage Disequilibrium report
STAT1
Human Gene Mutation Database (HGMD)
STAT1
Locus Specific Mutation Databases (LSDB)
STAT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAT1 Gene

Disorders for STAT1 Gene

(3) OMIM Diseases for STAT1 Gene (600555)

UniProtKB/Swiss-Prot

STAT1_HUMAN
  • Immunodeficiency 31B (IMD31B) [MIM:613796]: A disorder characterized by susceptibility to severe mycobacterial and viral infections. Affected individuals can develop disseminated infections and die of viral illness. {ECO:0000269 PubMed:12590259, ECO:0000269 PubMed:20841510}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Immunodeficiency 31A (IMD31A) [MIM:614892]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD31A has low penetrance, and affected individuals have relatively mild disease and good prognosis. IMD31A confers a predisposition to mycobacterial infections only, with no increased susceptibility to viral infections. {ECO:0000269 PubMed:11452125, ECO:0000269 PubMed:16934001, ECO:0000269 PubMed:22573496}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Immunodeficiency 31C (IMD31C) [MIM:614162]: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. {ECO:0000269 PubMed:21714643, ECO:0000269 PubMed:21727188}. Note=The disease is caused by mutations affecting the gene represented in this entry. STAT1 mutations in patients with autosomal dominant candidiasis lead to defective responses of type 1 and type 17 helper T-cells, characterized by reduced production of interferon-alpha, interleukin-17, and interleukin-22. These cytokines are crucial for the antifungal defense of skin and mucosa (PubMed:21714643). {ECO:0000269 PubMed:21714643}.

(96) Novoseek inferred disease relationships for STAT1 Gene

Disease -log(P) Hits PubMed IDs
thanatophoric dysplasia 59 3
virus infection 46.4 19
tumors 44.7 93
parainfluenza 44.7 6
fibrosarcoma 42.5 12

Relevant External Links for STAT1

Genetic Association Database (GAD)
STAT1
Human Genome Epidemiology (HuGE) Navigator
STAT1
genes like me logo Genes that share disorders with STAT1: view

Publications for STAT1 Gene

  1. Phosphorylation and activation of the DNA binding activity of purified Stat1 by the Janus protein-tyrosine kinases and the epidermal growth factor receptor. (PMID: 7657660) Quelle F.W. … Ihle J.N. (J. Biol. Chem. 1995) 3 4 23
  2. Maximal activation of transcription by Stat1 and Stat3 requires both tyrosine and serine phosphorylation. (PMID: 7543024) Wen Z. … Darnell J.E. Jr. (Cell 1995) 3 4 23
  3. Functional subdomains of STAT2 required for preassociation with the alpha interferon receptor and for signaling. (PMID: 9121453) Li X. … Stark G.R. (Mol. Cell. Biol. 1997) 3 4 23
  4. Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA. (PMID: 9630226) Chen X. … Kuriyan J. (Cell 1998) 3 4 23
  5. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. (PMID: 11452125) Dupuis S. … Casanova J.-L. (Science 2001) 3 4 23

Products for STAT1 Gene

  • Addgene plasmids for STAT1

Sources for STAT1 Gene

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