Gene Gene information from NCBI Gene database.
Entrez ID 6772
Gene name Signal transducer and activator of transcription 1
Gene symbol STAT1
Synonyms (NCBI Gene)
CANDF7IMD31AIMD31BIMD31CISGF-3STAT91
Chromosome 2
Chromosome location 2q32.2
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 ce
SNPs SNP information provided by dbSNP.
47
SNP ID Visualize variation Clinical significance Consequence
rs41473544 C>T Likely-benign, pathogenic, uncertain-significance Coding sequence variant, missense variant, non coding transcript variant
rs56228116 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Intron variant
rs137852677 A>G Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs137852678 A>G Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs137852679 C>A,T Pathogenic Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
400
miRTarBase ID miRNA Experiments Reference
MIRT000626 hsa-miR-145-5p qRT-PCRLuciferase reporter assayWestern blotMicroarray 20098684
MIRT000626 hsa-miR-145-5p Luciferase reporter assay 20098684
MIRT021229 hsa-miR-146a-5p Microarray 20110513
MIRT025278 hsa-miR-34a-5p Proteomics 21566225
MIRT040456 hsa-miR-615-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
14
Transcription factor Regulation Reference
BRCA1 Activation 17374731
CIITA Unknown 12052885
CREB5 Repression 21132541
EGF Unknown 11939722
GTF3A Unknown 12364590
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
133
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin IDA 18035482
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 22002246
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600555 11362 ENSG00000115415
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42224
Protein name Signal transducer and activator of transcription 1-alpha/beta (Transcription factor ISGF-3 components p91/p84)
Protein function Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors (PubMed:12764129, PubMed:12855578, PubMed:15322115, PubMed:23940278, PubMed:345
PDB 1BF5 , 1YVL , 2KA6 , 3WWT , 7NUF , 8D3F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02865 STAT_int 2 120 STAT protein, protein interaction domain Domain
PF01017 STAT_alpha 139 309 STAT protein, all-alpha domain Family
PF02864 STAT_bind 321 458 STAT protein, DNA binding domain Domain
PF00017 SH2 573 657 SH2 domain Domain
PF12162 STAT1_TAZ2bind 715 739 STAT1 TAZ2 binding domain Motif
Sequence
Sequence length 750
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Chemokine signaling pathway
Necroptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Prolactin signaling pathway
Thyroid hormone signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Leishmaniasis
Toxoplasmosis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
Pathways in cancer
Pancreatic cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease
  Interleukin-6 signaling
ISG15 antiviral mechanism
Signaling by SCF-KIT
Signaling by cytosolic FGFR1 fusion mutants
Downstream signal transduction
Interleukin-4 and Interleukin-13 signaling
Interferon gamma signaling
Regulation of IFNG signaling
Interleukin-20 family signaling
Interleukin-35 Signalling
Interleukin-9 signaling
NOTCH3 Intracellular Domain Regulates Transcription
Interleukin-27 signaling
Interleukin-21 signaling
Interferon alpha/beta signaling
Regulation of IFNA signaling
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
Signaling by PDGFRA extracellular domain mutants
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1677
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Pathogenic; Likely pathogenic rs763759889, rs2124996723, rs1382612689, rs2124996603, rs2125062900, rs2125029430, rs2125075054, rs2125000306, rs587777628, rs587777629, rs587777630, rs387906758, rs2470465165, rs1417484130, rs1559011859
View all (37 more)
RCV001387601
RCV002031476
RCV001953772
RCV002046903
RCV001943557
RCV001925332
RCV002003654
RCV001887932
RCV000133513
RCV000133514
RCV000133515
RCV002282710
RCV000148020
RCV002466305
RCV002651581
RCV002651582
RCV002651583
RCV002651586
RCV002642337
RCV000190349
RCV000190350
RCV002791540
RCV002895558
RCV003018891
RCV003224739
RCV003482195
RCV003486380
RCV003780991
RCV003805278
RCV003798738
RCV003800234
RCV003809444
RCV003815555
RCV000022986
RCV000022987
RCV000022988
RCV000022989
RCV000022990
RCV000022991
RCV000022992
RCV000022993
RCV000022994
RCV000022995
RCV000022996
RCV000022997
RCV000795005
RCV000652159
RCV000701663
RCV000797110
RCV000991273
RCV001057504
RCV001066865
RCV001052585
RCV001052005
RCV001235603
RCV001239955
Chronic mucocutaneous candidiasis Pathogenic rs2125062092, rs387906759 RCV001667870
RCV000825629
Immunodeficiency 31B Pathogenic; Likely pathogenic rs763759889, rs2125048161, rs2124996723, rs1382612689, rs2124996603, rs2125062900, rs2125029430, rs2125075054, rs2125000306, rs587777630, rs2125075036, rs387906758, rs2470533091, rs1417484130, rs1559011859
View all (32 more)
RCV001387601
RCV001824236
RCV002031476
RCV001953772
RCV002046903
RCV001943557
RCV001925332
RCV002003654
RCV001887932
RCV000698604
RCV002246744
RCV000702712
RCV002290424
RCV002651581
RCV002651582
RCV002651583
RCV002651586
RCV002642337
RCV002791540
RCV002895558
RCV003018891
RCV000009611
RCV000009612
RCV000009615
RCV003224739
RCV000280992
RCV003780991
RCV003805278
RCV003798738
RCV003800234
RCV003809444
RCV003815555
RCV003989923
RCV000022985
RCV000688972
RCV000684865
RCV001056331
RCV001383601
RCV001852004
RCV000795005
RCV000652159
RCV000701663
RCV000797110
RCV001057504
RCV001066865
RCV001052585
RCV001052005
RCV001235603
RCV001239955
Inherited Immunodeficiency Diseases Pathogenic; Likely pathogenic rs587777630, rs387906763, rs1574636674, rs1574657735, rs1574657762, rs1574672718 RCV001027623
RCV001027626
RCV001027624
RCV001027628
RCV001027625
RCV001027622
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Conflicting classifications of pathogenicity rs2066797, rs45459703 RCV005921924
RCV005896034
Cervical cancer Benign; Likely benign rs2230101 RCV005896029
Cholangiocarcinoma Benign; Uncertain significance rs2066797, rs374148252 RCV005921930
RCV005913556
Colon adenocarcinoma Likely benign rs200288904 RCV005867046
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia Associate 19802676
Acquired Immunodeficiency Syndrome Associate 11675348
Adenocarcinoma Follicular Associate 35769818
Adenocarcinoma of Lung Associate 27486982, 34685622, 34773335, 35152527, 37280312
Adenomatous Polyposis Coli Stimulate 20345984
Agammaglobulinemia Associate 33133069
Aging Premature Associate 33450762
AIDS Associated Nephropathy Associate 26535695
Alopecia Areata Associate 30558329, 31031313
Alzheimer Disease Associate 24343863, 28427548, 29848990, 30382187, 32706110, 34312772