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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 Show/Hide all (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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
C-type lectin receptor signaling pathway Interferon gamma signaling
TNF signaling pathway Interferon alpha/beta signaling
Prolactin signaling pathway Factors involved in megakaryocyte development and platelet production
Pertussis  
Human papillomavirus infection  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
51
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Gastric cancer Pathogenic rs121912469 RCV000015840
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 117 Pathogenic rs2479457796, rs2479462097 RCV003482892
RCV003482893
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-small cell lung carcinoma Pathogenic rs121912470 RCV000015841
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (48)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog 30573740
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS — GWAS catalog 26301688, 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — Disgenet, GWAS catalog
Disgenet, GWAS catalog
22561531, 24824216, 29083406, 29273806, 29785011, 30552067, 30929738, 31036433, 31619474, 31669095, 31959851, 32514122, 35104449, 35126453, 36344522, 39789286, 40155373, 41213931
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA — GWAS catalog 31669095
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (275)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 8219215
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke CTD_human_DG 12374626
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 8438156
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 8634413
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 10602416, 28039033
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30305853, 9679752
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 16533423
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28977839
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 8564980
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 8634413
★★★★★
★☆☆☆☆
Found in Text Mining only