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

Gene ID: 6772, updated on 5-Apr-2020

Summary

Official Symbol
STAT1provided by HGNC
Official Full Name
signal transducer and activator of transcription 1provided by HGNC
Primary source
HGNC:HGNC:11362
See related
Ensembl:ENSG00000115415 MIM:600555
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]
Expression
Ubiquitous expression in lymph node (RPKM 79.1), appendix (RPKM 72.6) and 25 other tissues See more
Orthologs

Genomic context

See STAT1 in Genome Data Viewer
Location:
2q32.2
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (190968989..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 CRISPRi-validated cis-regulatory element chr2.5899 Neighboring gene glutaminase Neighboring gene RAB1A pseudogene 1 Neighboring gene uncharacterized LOC105373805 Neighboring gene uncharacterized LOC107985785 Neighboring gene signal transducer and activator of transcription 4 Neighboring gene RNA, U6 small nuclear 959, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Immunodeficiency 31a
MedGen: C4013950 OMIM: 614892 GeneReviews: Not available
Compare labs
Immunodeficiency 31C
MedGen: C3279990 OMIM: 614162 GeneReviews: Not available
Compare labs
Mycobacterial and viral infections, susceptibility to, autosomal recessive
MedGen: C3151088 OMIM: 613796 GeneReviews: Not available
Compare labs

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

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection upregulates basal mRNA levels of JUN, IL6, STAT1, CEBPA, RELA, and CEBPG in monocyte derived macrophages PubMed
HIV/tuberculosis coinfection upregulates STAT1 expression in pleural fluid mononuclear cells (PFMC) isolated from antiretroviral-naive coinfected patients (relative to patients infected with tuberculosis only) PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Monocyte-derived dendritic cells treated with HIV-1 gp120 (CCR5-tropic, CN54) upregulates STAT1 expression at 18 hours post-treatment PubMed
env HIV-1 gp120 activates both STAT1 and STAT2 in primary human monocyte-derived dendritic cells PubMed
env Signal transducer and activator of transcription factor 1 (STAT1) partially regulates HIV-1 gp120/HCV E2-induced caspase 3 activity PubMed
Nef nef HIV-1 Nef-induced tyrosine-hyperphosphorylation of STAT1 is inhibited by the presence of retinoic acid in monocyte-derived DCs PubMed
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 HIV-1 Tat increases phosphorylation of ERK1/2, JNK1/2, p38, AKT1, MEK-1, and STAT-1alpha in Muller glia PubMed
tat HIV-1 and the viral protein Tat modulate the expression of signal transducer and activator of transcription 1, 91kDa (STAT1) in immature dendritic cells and monocyte-derived macrophages PubMed
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 induces the phosphorylation of STAT1 at tyrosine 701 and upregulates the expression of STAT1 in human monocyte-derived macrophages PubMed
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 HIV-1 MA recruits STAT1 to the LXR promoter region containing the STAT responsive sequence TTCAGGGAA; STAT1 mediates upregulation of NR1H3 (LXR-alpha) gene expression PubMed
gag HIV-1 MA increases phosphorylation of STAT1 PubMed
gag HIV-1 MA natural variant S75X upregulates the expression of STAT1 and STAT3, and induces phosphorylation of STAT1 at position S727 and STAT3 at position Y705 in Epstein-Barr virus (EBV)-infected B-lymphocytes PubMed
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686B04100

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CCR5 chemokine receptor binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II core promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
cadherin binding HDA PubMed 
double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone acetyltransferase binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear hormone receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
promoter-specific chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphatase 2A binding IEA
Inferred from Electronic Annotation
more info
 
repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
tumor necrosis factor receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-like protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
JAK-STAT cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
JAK-STAT cascade IDA
Inferred from Direct Assay
more info
PubMed 
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 
cellular response to interferon-gamma IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
defense response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to virus IDA
Inferred from Direct Assay
more info
PubMed 
NOT endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
interferon-gamma-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
interferon-gamma-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
interleukin-21-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-27-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-35-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-6-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-9-mediated signaling pathway TAS
Traceable Author Statement
more info
 
macrophage derived foam cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
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 by virus of viral protein levels in host cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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 by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of defense response to virus by host IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of defense response to virus by host IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interferon-alpha production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mesenchymal cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of nitric-oxide synthase biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smooth muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription of Notch receptor target TAS
Traceable Author Statement
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
renal tubule development IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
response to interferon-beta IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to peptide hormone ISS
Inferred from Sequence or Structural Similarity
more info
 
tumor necrosis factor-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
type I interferon signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type I interferon 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
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol 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 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
signal transducer and activator of transcription 1-alpha/beta
Names
signal transducer and activator of transcription 1, 91kD
signal transducer and activator of transcription 1, 91kDa
transcription factor ISGF-3 components p91/p84

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_007315.4NP_009330.1  signal transducer and activator of transcription 1-alpha/beta isoform alpha

    See identical proteins and their annotated locations for 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, EB385742
    Consensus CDS
    CCDS2309.1
    UniProtKB/Swiss-Prot
    P42224
    Related
    ENSP00000354394.3, ENST00000361099.7
    Conserved Domains (5) summary
    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:139315
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:317566
    STAT_bind; STAT protein, DNA binding domain
    pfam12162
    Location:715739
    STAT1_TAZ2bind; STAT1 TAZ2 binding domain
  2. NM_139266.2NP_644671.1  signal transducer and activator of transcription 1-alpha/beta isoform beta

    See identical proteins and their annotated locations for 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
    ENSP00000376136.3, ENST00000392322.7
    Conserved Domains (4) summary
    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:139315
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:317566
    STAT_bind; STAT protein, DNA binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    190968989..191014250 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004783.2XP_016860272.1  signal transducer and activator of transcription 1-alpha/beta isoform X1

    Conserved Domains (5) summary
    cd10372
    Location:559709
    SH2_STAT1; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 1 proteins
    smart00964
    Location:4123
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:141317
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:319568
    STAT_bind; STAT protein, DNA binding domain
    pfam12162
    Location:717741
    STAT1_TAZ2bind; STAT1 TAZ2 binding domain
  2. XM_006712718.1XP_006712781.1  signal transducer and activator of transcription 1-alpha/beta isoform X2

    See identical proteins and their annotated locations for XP_006712781.1

    UniProtKB/Swiss-Prot
    P42224
    Related
    ENSP00000438703.2, ENST00000540176.6
    Conserved Domains (5) summary
    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:139315
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:317566
    STAT_bind; STAT protein, DNA binding domain
    pfam12162
    Location:715739
    STAT1_TAZ2bind; STAT1 TAZ2 binding domain

RNA

  1. XR_001738915.2 RNA Sequence

    Related
    ENST00000673734.1
  2. XR_001738914.2 RNA Sequence

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