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STAT1 signal transducer and activator of transcription 1, 91kDa [ Homo sapiens (human) ]

Gene ID: 6772, updated on 18-Oct-2014
Official Symbol
STAT1provided by HGNC
Official Full Name
signal transducer and activator of transcription 1, 91kDaprovided by HGNC
Primary source
HGNC:HGNC:11362
See related
Ensembl:ENSG00000115415; HPRD:02777; MIM:600555; Vega:OTTHUMG00000132699
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CANDF7; IMD31A; IMD31B; IMD31C; ISGF-3; STAT91
Summary
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]
See STAT1 in Epigenomics, MapViewer
Location:
2q32.2
Exon count:
25
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (190969036..191014250, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191833762..191878976, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NGFI-A binding protein 1 (EGR1 binding protein 1) Neighboring gene glutaminase Neighboring gene RAB1A, member RAS oncogene family pseudogene Neighboring gene signal transducer and activator of transcription 4 Neighboring gene high mobility group box 1 pseudogene 27

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Candidiasis, familial, 7
MedGen: C3279990 OMIM: 614162 GeneReviews: Not available
Compare labs
IMMUNODEFICIENCY 31A
MedGen: CN219205 OMIM: 614892 GeneReviews: Not available
Compare labs
Mycobacterial and viral infections, susceptibility to, autosomal recessive
MedGen: C3151088 OMIM: 613796 GeneReviews: Not available
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Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-09-18)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-09-18)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Signal transducer and activator of transcription factor 1 (STAT1) partially regulates HIV-1 gp120/HCV E2-induced caspase 3 activity PubMed
Nef nef TRAF2 and TRAF6 proteins are required for the HIV-1 Nef-induced tyrosine phosphorylation of STAT1 and STAT2 proteins. Both myristoylation and acidic cluster of Nef are essential to induce the tyrosine phosphorylation PubMed
nef HIV-1 Nef induces phosphorylation of STAT1 in M2-type macrophages PubMed
nef HIV-1 Nef specifically activates both alpha and beta isoforms of the signal transducer and activator of transcription 1 (STAT1) in human monocyte-derived macrophages (MDMs) PubMed
Tat tat Microarray analysis indicates HIV-1 Tat upregulates the interferon-responsive gene expression of many proteins, including STAT-1 (p91 and p84), in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection PubMed
tat HIV-1 Tat suppresses IFN-gamma-induced LC3B protein expression and autophagosome formation through Tat-mediated suppression of STAT1 phosphorylation PubMed
tat HIV-1 Tat impairs the IFNgamma-receptor signaling pathway, in primary human monocytes, at the level of STAT1 activation via Tat-dependent induction of suppressor of cytokine signaling-2 (SOCS-2) activity PubMed
tat HIV-1 Tat in combination with IFN-gamma and TNF-alpha increases CXCL10 mRNA and protein in human astrocytes through the activation of the p38, Jnk, and Akt signaling pathways and their downstream transcription factors, NF-kappaB and STAT-1alpha PubMed
tat HIV-1 Tat represses transcription of the LMP2 gene by competing with STAT1 (signal transducer and activator of transcription 1) for binding to IRF-1 (interferon-regulatory factor-1) at the LMP2 promoter PubMed
Vpr vpr HIV-1 Vpr enhances TNF-alpha production in LPS-stimulated dendritic cells (DC). Vpr-induced TNF-alpha production in DC is through STAT1 activation PubMed
Vpu vpu The expression of STAT1 is enhanced in Vpu-deficient HIV-1-infected cells as compared to that in wild-type-infected cells PubMed
matrix gag Treatment of human stellate cells with HIV-1 MA induces phosphorylation of STAT1 and STAT3 proteins PubMed
gag Exposure of human acute monocytic leukemia cells THP-1 to HIV-1 MA activates the syndecan-2/RACK-1/Jak-1 signal pathway, leading to STAT-1 phosphorylation PubMed

Go to the HIV-1, Human Interaction Database

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    Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Type II interferon signaling (IFNG), organism-specific biosystem (from WikiPathways)
    Type II interferon signaling (IFNG), organism-specific biosystemAdapted from Raza et al. (2008). This pathway is initiated by IFNG binding to its receptor and a subsequent phosphorylation cascade involving a number of the JAK and STAT family of proteins. Several ...
  • Type III interferon signaling, organism-specific biosystem (from WikiPathways)
    Type III interferon signaling, organism-specific biosystemThe recently identified type III interferon group consists of three IFN-? (lambda) genes encoding molecules called IFN-?1, IFN-?2 and IFN-?3 (also called IL29, IL28A and IL28B respectively). These IF...
  • p38 MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
    p38 MAPK Signaling Pathway, organism-specific biosystemp38 MAPKs are members of the MAPK family that are activated by a variety of environmental stresses and inflammatory cytokines. Stress signals are delivered to this cascade by members of small GTPases...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686B04100

Gene Ontology Provided by GOA

Process Evidence Code Pubs
JAK-STAT cascade IDA
Inferred from Direct Assay
more info
 
JAK-STAT cascade involved in growth hormone signaling pathway TAS
Traceable Author Statement
more info
 
apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
blood circulation ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to interferon-beta IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
defense response to virus IEA
Inferred from Electronic Annotation
more info
 
NOT endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
interferon-gamma-mediated signaling pathway IDA
Inferred from Direct Assay
more info
 
interferon-gamma-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
lipopolysaccharide-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
metanephric mesenchymal cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephric mesenchymal cell proliferation involved in metanephros development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of I-kappaB kinase/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of macrophage fusion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of metanephric nephron tubule epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of mesenchymal cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of smooth muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
regulation of interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
NOT regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of type I interferon-mediated signaling pathway TAS
Traceable Author Statement
more info
 
renal tubule development IMP
Inferred from Mutant Phenotype
more info
 
response to cAMP ISS
Inferred from Sequence or Structural Similarity
more info
 
response to cytokine ISS
Inferred from Sequence or Structural Similarity
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to exogenous dsRNA IEA
Inferred from Electronic Annotation
more info
 
response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
response to peptide hormone ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
 
tumor necrosis factor-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
type I interferon signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
signal transducer and activator of transcription 1-alpha/beta
Names
signal transducer and activator of transcription 1-alpha/beta
transcription factor ISGF-3 components p91/p84
signal transducer and activator of transcription-1
signal transducer and activator of transcription 1, 91kD

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008294.1 

    Range
    5001..50215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_111

mRNA and Protein(s)

  1. NM_007315.3NP_009330.1  signal transducer and activator of transcription 1-alpha/beta isoform alpha

    See proteins identical to NP_009330.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (alpha) encodes the longer protein (isoform alpha).
    Source sequence(s)
    AI992149, AK292604, AK315002, BU738296, CN410740, CR749636, CR998778, DA313984, EB385742
    Consensus CDS
    CCDS2309.1
    UniProtKB/Swiss-Prot
    P42224
    Related
    ENSP00000354394, OTTHUMP00000163552, ENST00000361099, OTTHUMT00000255997
    Conserved Domains (5) summary
    pfam02864
    Location:317567
    STAT_bind; STAT protein, DNA binding domain
    pfam12162
    Location:715739
    STAT1_TAZ2bind; STAT1 TAZ2 binding domain
    cd10372
    Location:557707
    SH2_STAT1; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 1 proteins
    smart00964
    Location:2121
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:136315
    STAT_alpha; STAT protein, all-alpha domain
  2. NM_139266.2NP_644671.1  signal transducer and activator of transcription 1-alpha/beta isoform beta

    See proteins identical to NP_644671.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (beta) is different in its 3' coding region and UTR compared to variant alpha. It encodes a protein (isoform beta) with a shorter C-terminus, when compared to isoform alpha.
    Source sequence(s)
    BX400908, CR749636, CR998778, DA313984
    Consensus CDS
    CCDS42793.1
    UniProtKB/Swiss-Prot
    P42224
    Related
    ENSP00000376136, OTTHUMP00000165047, ENST00000392322, OTTHUMT00000257869
    Conserved Domains (4) summary
    pfam02864
    Location:317567
    STAT_bind; STAT protein, DNA binding domain
    cd10372
    Location:557707
    SH2_STAT1; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 1 proteins
    smart00964
    Location:2121
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:136315
    STAT_alpha; STAT protein, all-alpha domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    190969036..191014250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712718.1XP_006712781.1  

    See proteins identical to XP_006712781.1

    UniProtKB/Swiss-Prot
    P42224
    Conserved Domains (5) summary
    pfam02864
    Location:317567
    STAT_bind; STAT protein, DNA binding domain
    pfam12162
    Location:715739
    STAT1_TAZ2bind; STAT1 TAZ2 binding domain
    cd10372
    Location:557707
    SH2_STAT1; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 1 proteins
    smart00964
    Location:2121
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:136315
    STAT_alpha; STAT protein, all-alpha domain

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    183693413..183738626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    191839599..191884801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)