Gene Gene information from NCBI Gene database.
Entrez ID 3659
Gene name Interferon regulatory factor 1
Gene symbol IRF1
Synonyms (NCBI Gene)
IMD117IRF-1MAR
Chromosome 5
Chromosome location 5q31.1
Summary The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body`s r
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121912469 T>A Pathogenic Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs121912470 A>G Pathogenic Missense variant, coding sequence variant, intron variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
738
miRTarBase ID miRNA Experiments Reference
MIRT004627 hsa-miR-342-3p Review 20026422
MIRT006535 hsa-miR-383-5p FlowImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 21368870
MIRT006535 hsa-miR-383-5p FlowImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 21368870
MIRT006535 hsa-miR-383-5p FlowImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 21368870
MIRT006535 hsa-miR-383-5p FlowImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 21368870
Transcription factors Transcription factors information provided by TRRUST V2 database.
13
Transcription factor Regulation Reference
CIITA Unknown 12052885;15950283
CREBBP Activation 18497060
NFKB1 Activation 18694960
NFKB1 Unknown 12077266
RELA Activation 18694960
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
66
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 18035482
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 32385160
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 32385160
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147575 6116 ENSG00000125347
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10914
Protein name Interferon regulatory factor 1 (IRF-1)
Protein function Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:223
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00605 IRF 7 112 Interferon regulatory factor transcription factor Domain
Sequence
MPITRMRMRPWLEMQINSNQIPGLIWINKEEMIFQIPWKHAAKHGWDINKDACLFRSWAI
HTGRYKAGEKEPDPKTWKANFRCAMNSLPDIEEVKDQSRNKGSSAVRVYRML
PPLTKNQR
KERKSKSSRDAKSKAKRKSCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALT
PALSPCAVSSTLPDWHIPVEVVPDSTSDLYNFQVSPMPSTSEATTDEDEEGKLPEDIMKL
LEQSEWQPTNVDGKGYLLNEPGVQPTSVYGDFSCKEEPEIDSPGGDIGLSLQRVFTDLKN
MDATWLDSLLTPVRLPSIQAIPCAP
Sequence length 325
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  C-type lectin receptor signaling pathway
TNF signaling pathway
Prolactin signaling pathway
Pertussis
Human papillomavirus infection
  Interferon gamma signaling
Interferon alpha/beta signaling
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Pathogenic rs121912469 RCV000015840
Immunodeficiency 117 Pathogenic rs2479457796, rs2479462097 RCV003482892
RCV003482893
Non-small cell lung carcinoma Pathogenic rs121912470 RCV000015841
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
IRF1-related disorder Likely benign rs201796901 RCV003904259
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Stimulate 25997853, 31871426
Adenocarcinoma of Lung Stimulate 24564251
Alopecia Areata Associate 30558329
Alzheimer Disease Associate 34804058
Amyotrophic Lateral Sclerosis Associate 27512062
Anhedonia Associate 30408130
Arthritis Juvenile Associate 11315919, 25540605
Arthritis Rheumatoid Associate 21834067, 25014791, 25452308, 35572839
Arthritis Rheumatoid Stimulate 22401175
Atherosclerosis Associate 38277520