STAT1 Gene (Protein Coding)

Signal Transducer And Activator Of Transcription 1

GC02M190908
GIFtS:
54
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 i... See more...

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-Alpha/Beta 3 4
  • Signal Transducer And Activator Of Transcription 1, 91kDa 2 3
  • Signal Transducer And Activator Of Transcription 1, 91kD 2 3
  • ISGF-3 2 3
  • STAT91 2 3
  • CANDF7 3
  • IMD31A 3
  • IMD31B 3
  • IMD31C 3
  • STAT1 5

External Ids for STAT1 Gene

Previous GeneCards Identifiers for STAT1 Gene

  • GC02M190028
  • GC02M190536
  • GC02M191797
  • GC02M192036
  • GC02M191659
  • GC02M191542
  • GC02M191829
  • GC02M183693
  • GC02M190964

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. 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]

CIViC Summary for STAT1 Gene

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 and Immunodeficiency 31C. Among its related pathways are Immune response IL-23 signaling pathway and IL-6 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.

UniProtKB/Swiss-Prot Summary 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 (PubMed:28753426). 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 (PubMed:26479788). 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

Additional gene information for STAT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STAT1 Gene

Genomics for STAT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

GeneHancers around STAT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STAT1

Top Transcription factor binding sites by QIAGEN in the STAT1 gene promoter:
  • AP-1
  • c-Myc
  • COMP1
  • FOXO1
  • FOXO1a
  • IRF-1
  • Max1
  • RSRFC4
  • S8
  • STAT5B

Genomic Locations for STAT1 Gene

Latest Assembly
chr2:190,908,460-191,020,960
(GRCh38/hg38)
Size:
112,501 bases
Orientation:
Minus strand

Previous Assembly
chr2:191,833,875-191,878,897
(GRCh37/hg19 by Entrez Gene)
Size:
45,023 bases
Orientation:
Minus strand

chr2:191,829,084-191,885,686
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for STAT1 Gene

Proteins for STAT1 Gene

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  • 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 (PubMed:8605877, PubMed:28753426). Heterodimer with STAT2 upon IFN-alpha/beta induced phosphorylation (PubMed:8605877). The heterodimer STAT1:STAT2 forms the interferon-stimulated gene factor 3 complex (ISGF3) with IRF9 (By similarity). Interacts (phosphorylated at Ser-727) with PIAS1; the interaction results in release of STAT1 from its target gene (PubMed:9724754, PubMed:17897103). Interacts with IFNAR1; the interaction requires the phosphorylation of IFNAR1 at 'Tyr-466' (PubMed:9121453). Interacts with IFNAR2 (PubMed:9121453). Found in a complex with NMI and CREBBP/CBP (PubMed:9989503). Interacts with NMI which is required for CREBBP/CBP recruitment to the complex (PubMed:9989503). Interacts with PTK2/FAK1 (PubMed:11278462). Interacts with SRC (By similarity). Interacts with ERBB4 (phosphorylated) (PubMed:18721752). Interacts with PARP9 and DTX3L independently of IFN-beta or IFN-gamma-mediated STAT1 'Tyr-701' phosphorylation (PubMed:26479788). Interacts with histone acetyltransferase EP300/p300 in response to INF-gamma stimulation (PubMed:26479788). Interacts with OTOP1 (By similarity).
    • (Microbial infection) Interacts with Sendai virus C', C, Y1 and Y2 proteins, preventing activation of ISRE and GAS promoter.
    • (Microbial infection) Interacts with Nipah virus P, V and W proteins preventing activation of ISRE and GAS promoter.
    • (Microbial infection) Interacts with Rabies virus phosphoprotein preventing activation of ISRE and GAS promoter.
    • (Microbial infection) Interacts with HCV core protein; the interaction results in STAT1 degradation.
    • (Microbial infection) Interacts with ebolavirus protein VP24.

    Three dimensional structures from OCA and Proteopedia for STAT1 Gene

    Alternative splice isoforms for STAT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STAT1 Gene

Protein Expression for STAT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for STAT1 Gene

  • 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.
  • ISGylated.
  • Mono-ADP-ribosylated at Glu-657 and Glu-705 by PARP14; ADP-ribosylation prevents phosphorylation at Tyr-701 (PubMed:27796300). However, the role of ADP-ribosylation in the prevention of phosphorylation has been called into question and the lack of phosphorylation may be due to sumoylation of Lys-703 (PubMed:29858569).
  • Monomethylated at Lys-525 by SETD2; monomethylation is necessary for phosphorylation at Tyr-701, translocation into the nucleus and activation of the antiviral defense.
  • (Microbial infection) Ubiquitinated by Herpes simplex virus 2 E3 ubiquitin ligase ICP22.
  • Ubiquitination at Lys592 and Lys652
  • Modification sites at PhosphoSitePlus

Other Protein References for STAT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for STAT1 Gene

Domains & Families for STAT1 Gene

Gene Families for STAT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for STAT1 Gene

InterPro:
Blocks:
  • STAT protein

Suggested Antigen Peptide Sequences for STAT1 Gene

GenScript: Design optimal peptide antigens:
  • Signal transducer and activator of transcription 1 variant a (Q67C41_HUMAN)
  • Signal transducer and activator of transcription 1 (Q9UK44_HUMAN)
  • Transcription factor ISGF-3 components p91/p84 (STAT1_HUMAN)

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

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  6. Cell Lines for research

Molecular function for STAT1 Gene

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 (PubMed:28753426). 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 (PubMed:26479788). 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.
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

Phenotypes From GWAS Catalog for STAT1 Gene

Gene Ontology (GO) - Molecular Function for STAT1 Gene

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,ISA --
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 Models for research

  • Taconic Biosciences Mouse Models for STAT1

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 RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAT1

Clone products for research

  • 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 (PubMed:15322115). Monomethylation at Lys-525 is required for phosphorylation at Tyr-701 and translocation into the nucleus (PubMed:28753426). Translocates into the nucleus in response to interferon-beta stimulation (PubMed:26479788). {ECO:0000269 PubMed:15322115, ECO:0000269 PubMed:26479788, ECO:0000269 PubMed:28753426}.

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
plasma membrane 3
extracellular 3
cytoskeleton 3
mitochondrion 3
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 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
genes like me logo Genes that share ontologies with STAT1: view

Pathways & Interactions for STAT1 Gene

PathCards logo

SuperPathways for STAT1 Gene

SuperPathway Contained pathways
1 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
IL-21 Signaling Pathways
.90
IL-7 Signaling Pathways
.90
IL-9 Signaling Pathways
.90
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
.90
IL-2 Signaling Pathways
.88
Immune response IL-9 signaling pathway
.42
IL-9 Pathway
.36
2 Toll-like Receptor Signaling Pathway
Toll-like receptor signaling pathway
.92
Toll-like Receptor Signaling Pathway
.92
Regulation of toll-like receptor signaling pathway
.71
Hepatitis B
.37
Hepatitis C
.34
3 Th17 cell differentiation
Th1 and Th2 cell differentiation
.55
Th17 cell differentiation
.55
Inflammatory bowel disease
.37
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
IL23-mediated signaling events
.35
5 Prolactin Signaling Pathway
Development Prolactin receptor signaling
.38
Prolactin Signaling Pathway
.38
Prolactin signaling pathway
.34
Leptin signaling pathway
.33
genes like me logo Genes that share pathways with STAT1: view

Pathways by source for STAT1 Gene

19 GeneGo (Thomson Reuters) pathways for STAT1 Gene
  • Bacterial infections in CF airways
  • Cell adhesion PLAU signaling
  • Development Angiopoietin - Tie2 signaling
  • Development CNTF receptor signaling
  • Development EGFR signaling pathway
1 Tocris pathway for STAT1 Gene
28 Qiagen pathways for STAT1 Gene
  • BRCA1 Pathway
  • CNTF Signaling
  • Colorectal Cancer Metastasis
  • EGF Pathway
  • ErbB2-ErbB3 Heterodimers
1 Cell Signaling Technology pathway for STAT1 Gene
1 GeneTex pathway for STAT1 Gene

SIGNOR curated interactions for STAT1 Gene

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

Drugs & Compounds for STAT1 Gene

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(59) 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 1633,1633
Methimazole Approved Pharma ICAM-1 inhibitor 25
Niclosamide Approved, Investigational, Vet_approved Pharma STAT3 inhibitor; also inhibits mTORC1 signaling 26
Nifuroxazide Experimental Pharma Antidiarrheal agent 0
Sulforaphane Investigational Pharma 67

(52) 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 for research

Transcripts for STAT1 Gene

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mRNA/cDNA for STAT1 Gene

14 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAT1

Clone products for research

  • 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

Expression for STAT1 Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STAT1 Gene

mRNA expression in normal human tissues for STAT1 Gene
mRNA expression by GTEx for STAT1 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for STAT1 Gene



Protein tissue co-expression partners for STAT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.1)
  • Lymph node(3.7)
  • Spleen(3.6)
  • Blood(3.6)
  • Intestine(3.5)
  • Kidney(3.5)
  • Lung(3.4)
  • Muscle(3.3)
  • Heart(3.3)
  • Bone marrow(3.2)
  • Pancreas(3)
  • Stomach(2.9)
  • Thyroid gland(2.6)
  • Adrenal gland(2.6)
  • Eye(2.5)
  • Gall bladder(2.3)
  • Bone(2.1)

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
Regions:
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 for research

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 29 30
  • 99.49 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia STAT1 29 30
  • 90.96 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LOC488449 29
  • 90.44 (n)
STAT1 30
  • 56 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Stat1 29
  • 87.27 (n)
Oppossum
(Monodelphis domestica)
 Mammalia STAT1 30
  • 87 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Stat1 29 16 30
  • 86.74 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia STAT1 30
  • 51 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves STAT1 29 30
  • 76.24 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia STAT1 30
  • 42 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia stat1 29
  • 73.44 (n)
African clawed frog
(Xenopus laevis)
 Amphibia LOC398324 29
Zebrafish
(Danio rerio)
 Actinopterygii stat1a 29 30
  • 63.6 (n)
 OneToMany
stat1b 30
  • 59 (a)
 OneToMany
stat1 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11900 29
Species where no ortholog for STAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for STAT1: view image
Alliance of Genome Resources:
Additional Orthologs for STAT1

Paralogs for STAT1 Gene

Paralogs for STAT1 Gene

(7) SIMAP similar genes for STAT1 Gene using alignment to 10 proteins:

  • STAT1_HUMAN
  • D2KFR9_HUMAN
  • E7ENM1_HUMAN
  • E7EPD2_HUMAN
  • E9PH66_HUMAN
  • H7BZ88_HUMAN
  • H7BZB5_HUMAN
  • J3KPM9_HUMAN
  • Q67C41_HUMAN
  • Q9UK44_HUMAN
genes like me logo Genes that share paralogs with STAT1: view

Variants for STAT1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STAT1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1013684 Uncertain Significance: Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 190,984,381(-) C/T
NM_007315.4(STAT1):c.1276G>A (p.Val426Ile) 		MISSENSE
1017833 Uncertain Significance: Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 190,986,873(-) G/T
NM_007315.4(STAT1):c.1202C>A (p.Ala401Glu) 		MISSENSE
1017838 Uncertain Significance: Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 190,995,113(-) TGTTTTTTGTGATAGG
NM_007315.4(STAT1):c.877_891del (p.Pro293_Asn297del) 		INFRAME_DELETION,INTRON
1019127 Uncertain Significance: Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 190,980,615(-) C/T
NM_007315.4(STAT1):c.1632+5G>A 		INTRON
1019308 Uncertain Significance: Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 190,991,289(-) G/A
NM_007315.4(STAT1):c.976C>T (p.Pro326Ser) 		MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for STAT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for STAT1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for STAT1 Gene

MalaCards: The human disease database

(117) MalaCards diseases for STAT1 Gene - From: LNC, OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency 31b
  • imd31b
immunodeficiency 31c
  • imd31c
immunodeficiency 31a
  • imd31a
hypothyroidism
  • thyroid deficiency
bronchiectasis
  • polynesian bronchiectasis
- 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 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 variants 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 variants 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 variants 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}.

Additional Disease Information for STAT1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with STAT1: view

No data available for Genatlas for STAT1 Gene

Publications for STAT1 Gene

  1. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. (PMID: 12590259) Dupuis S … Casanova JL (Nature genetics 2003) 3 4 22 72
  2. The genomic structure of the STAT genes: multiple exons in coincident sites in Stat1 and Stat2. (PMID: 7885841) Yan R … Darnell JE (Nucleic acids research 1995) 2 3 4 22
  3. Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. (PMID: 25288569) Yamazaki Y … Ariga T (Journal of immunology (Baltimore, Md. : 1950) 2014) 3 4 72
  4. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. (PMID: 23709754) Soltész B … Maródi L (Journal of medical genetics 2013) 3 4 72
  5. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. (PMID: 21714643) van de Veerdonk FL … Netea MG (The New England journal of medicine 2011) 3 4 72

ExternalLinks

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