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Aliases for STAT1 Gene

Aliases for STAT1 Gene

  • Signal Transducer And Activator Of Transcription 1 2 3 5
  • Transcription Factor ISGF-3 Components P91/P84 2 3 4
  • Signal Transducer And Activator Of Transcription 1, 91kDa 2 3
  • Signal Transducer And Activator Of Transcription 1, 91kD 2 3
  • Signal Transducer And Activator Of Transcription 1-Alpha/Beta 3
  • CANDF7 3
  • IMD31A 3
  • IMD31B 3
  • IMD31C 3
  • ISGF-3 3
  • STAT91 3

External Ids for STAT1 Gene

Previous GeneCards Identifiers for STAT1 Gene

  • GC02M190028
  • GC02M190536
  • GC02M191797
  • GC02M192036
  • GC02M191659
  • GC02M191542
  • GC02M191829
  • GC02M183693

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) is a Protein Coding gene. Diseases associated with STAT1 include Immunodeficiency 31B, Mycobacterial And Viral Infections, Autosomal Recessive and Immunodeficiency 31A, Mycobacteriosis, Autosomal Dominant. Among its related pathways are Toxoplasmosis and Development ERBB-family signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein homodimerization activity. An important paralog of this gene is STAT4.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STAT1 Gene

Genomics for STAT1 Gene

Regulatory Elements for STAT1 Gene

Enhancers for STAT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G191048 1.5 Ensembl ENCODE dbSUPER 16.9 -29.5 -29494 4.3 PKNOX1 FOXA2 SIN3A FEZF1 YY1 FOS REST TBX21 KAT8 SSRP1 STAT1 LOC105373805 ENSG00000230686 GLS GC02P191043 GC02P191061
GH02G190979 1.2 ENCODE dbSUPER 12.3 +40.2 40186 2.5 ZFP64 SIN3A DMAP1 FEZF1 ZNF48 ZBTB7B GLIS2 GATA2 FOS SP5 GLS ENSG00000230686 LOC105373805 STAT1 LOC100420571 GC02P190930
GH02G191012 1.7 FANTOM5 ENCODE dbSUPER 8.6 +7.3 7261 4.6 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 WRNIP1 ARID4B LOC105373805 NAB1 MSTN GLS STAT1 HIBCH STAT4 GC02P191016 LOC100420571
GH02G190996 1.1 FANTOM5 dbSUPER 13.2 +24.1 24091 0.2 ELF3 DMAP1 RARA MIXL1 KAT8 TGIF2 NFIL3 SSRP1 RCOR2 CTCF STAT1 ENSG00000230686 LOC105373805 LOC100420571 GC02P191016
GH02G190997 1.1 ENCODE dbSUPER 11.9 +24.6 24551 0.2 ELF3 DMAP1 RAD21 RARA ZNF143 MIXL1 MIER2 PPARG KAT8 TGIF2 ENSG00000230686 STAT1 LOC105373805 LOC100420571 GC02P191016
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STAT1 on UCSC Golden Path with GeneCards custom track

Promoters for STAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000127950 360 1201 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for STAT1 Gene

Chromosome:
2
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

Genes around STAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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.
  • Ubiquitination at Lys592 and Lys652
  • Modification sites at PhosphoSitePlus

Assay Products

No data available for DME Specific Peptides for STAT1 Gene

Domains & Families for STAT1 Gene

Gene Families for STAT1 Gene

Graphical View of Domain Structure for InterPro Entry

P42224

UniProtKB/Swiss-Prot:

STAT1_HUMAN :
  • Belongs to the transcription factor STAT family.
Family:
  • Belongs to the transcription factor STAT family.
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 transcription factor activity, RNA polymerase II core promoter sequence-specific IDA 21268089
GO:0003677 DNA binding IEA --
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

Human Phenotype Ontology for STAT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STAT1 Gene

MGI Knock Outs for STAT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for STAT1

CRISPR Products

Transcription Factor Targets for STAT1 Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for STAT1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STAT1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 3
plasma membrane 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
endosome 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 IEA,IDA 10692450
GO:0005654 nucleoplasm TAS,IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA,IEA 10692450
genes like me logo Genes that share ontologies with STAT1: view

Pathways & Interactions for STAT1 Gene

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

Pathways by source for STAT1 Gene

SIGNOR curated interactions for STAT1 Gene

Inactivates:
Is activated by:
Is inactivated by:

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 IEA --
genes like me logo Genes that share ontologies with STAT1: view

Drugs & Compounds for STAT1 Gene

(60) Drugs for STAT1 Gene - From: ClinicalTrials, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fludarabine Approved Pharma DNA synthsis inhibitor 1154,1154
Methimazole Approved Pharma ICAM-1 inhibitor 0
Niclosamide Approved, Vet_approved Pharma 9
Protective Agents Pharma 7443
Sulforafan Pharma 45

(51) Additional Compounds for STAT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(6) ApexBio Compounds for STAT1 Gene

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

Drug Products

Transcripts for STAT1 Gene

Unigene Clusters for STAT1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for STAT1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for STAT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STAT1 Gene

This gene is overexpressed in Lymph node (13.9), Tlymphocyte (8.4), and Spleen (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for STAT1 Gene



Protein tissue co-expression partners for STAT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STAT1 Gene:

STAT1

SOURCE GeneReport for Unigene cluster for STAT1 Gene:

Hs.743244

Evidence on tissue expression from TISSUES for STAT1 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Skin(3.9)
  • Blood(3.4)
  • Lymph node(3.3)
  • Spleen(3.3)
  • Lung(3.2)
  • Intestine(3.1)
  • Kidney(3.1)
  • Muscle(3)
  • Heart(2.9)
  • Bone marrow(2.7)
  • Pancreas(2.7)
  • Adrenal gland(2)
  • Eye(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STAT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
Organs:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • esophagus
  • lung
  • thymus
Abdomen:
  • liver
  • spleen
Pelvis:
  • vagina
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with STAT1: view

Primer Products

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 34 35
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia STAT1 34 35
  • 90.96 (n)
dog
(Canis familiaris)
Mammalia LOC488449 34
  • 90.44 (n)
STAT1 35
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stat1 34
  • 87.27 (n)
oppossum
(Monodelphis domestica)
Mammalia STAT1 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stat1 34 16 35
  • 86.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia STAT1 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves STAT1 34 35
  • 76.24 (n)
lizard
(Anolis carolinensis)
Reptilia STAT1 35
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stat1 34
  • 73.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398324 34
zebrafish
(Danio rerio)
Actinopterygii stat1a 34 35
  • 63.6 (n)
stat1b 35
  • 59 (a)
OneToMany
stat1 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11900 34
Species where no ortholog for STAT1 was found in the sources mined by GeneCards:
  • 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
rs137852677 Pathogenic, Immunodeficiency 31A (IMD31A) [MIM:614892] 190,975,830(-) TGAGT(C/T)GATTT nc-transcript-variant, reference, missense
rs137852678 Pathogenic, Immunodeficiency 31B (IMD31B) [MIM:613796] 190,978,930(-) CTTCC(C/T)GCTGC nc-transcript-variant, reference, missense
rs137852679 Pathogenic, Immunodeficiency 31A (IMD31A) [MIM:614892] 190,983,699(-) AGCCA(G/T)CTCCC nc-transcript-variant, reference, missense
rs137852680 Pathogenic, Immunodeficiency 31A (IMD31A) [MIM:614892] 190,991,307(-) TGGTG(C/G)AAAGA nc-transcript-variant, reference, missense
rs387906758 Pathogenic, Immunodeficiency 31C (IMD31C) [MIM:614162] 190,995,185(-) AAGTT(C/G/T)GGCAG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv584065 CNV loss 21841781
nsv834493 CNV gain 17160897
nsv999391 CNV gain 25217958

Variation tolerance for STAT1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STAT1 Gene

Human Gene Mutation Database (HGMD)
STAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAT1

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

Disorders for STAT1 Gene

MalaCards: The human disease database

(41) MalaCards diseases for STAT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search STAT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STAT1_HUMAN
  • 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 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, ECO:0000269 PubMed:23709754}. 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, ECO:0000269 PubMed:23709754, ECO:0000269 PubMed:25288569, ECO:0000269 PubMed:26514428}. 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}.

Relevant External Links for STAT1

Genetic Association Database (GAD)
STAT1
Human Genome Epidemiology (HuGE) Navigator
STAT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STAT1
genes like me logo Genes that share disorders with STAT1: view

No data available for Genatlas for STAT1 Gene

Publications for STAT1 Gene

  1. MAPK-induced Ser727 phosphorylation promotes SUMOylation of STAT1. (PMID: 17897103) Vanhatupa S. … Silvennoinen O. (Biochem. J. 2008) 3 4 22 64
  2. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. (PMID: 16934001) Chapgier A. … Casanova J.L. (PLoS Genet. 2006) 3 4 22 64
  3. Protein kinase Cdelta regulates apoptosis via activation of STAT1. (PMID: 15322115) DeVries T.A. … Reyland M.E. (J. Biol. Chem. 2004) 3 4 22 64
  4. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. (PMID: 12590259) Dupuis S. … Casanova J.L. (Nat. Genet. 2003) 3 4 22 64
  5. PIAS proteins promote SUMO-1 conjugation to STAT1. (PMID: 12855578) Ungureanu D. … Silvennoinen O. (Blood 2003) 3 4 22 64

Products for STAT1 Gene

  • Addgene plasmids for STAT1

Sources for STAT1 Gene

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