Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3659
Gene name Gene Name - the full gene name approved by the HGNC.
Interferon regulatory factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IRF1
Synonyms (NCBI Gene) Gene synonyms aliases
IMD117, IRF-1, MAR
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD117
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004627 hsa-miR-342-3p Review 20026422
MIRT006535 hsa-miR-383-5p Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot 21368870
MIRT006535 hsa-miR-383-5p Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot 21368870
MIRT006535 hsa-miR-383-5p Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot 21368870
MIRT006535 hsa-miR-383-5p Flow, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot 21368870
Transcription factors
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 18035482
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 32385160
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 18035482
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147575 6116 ENSG00000125347
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Lung adenocarcinoma Bronchioloalveolar Adenocarcinoma rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
Lung carcinoma Non-Small Cell Lung Carcinoma, Carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)
Unknown
Disease term Disease name Evidence References Source
Immunodeficiency immunodeficiency 117 GenCC
Eczema Eczema GWAS
Asthma Asthma GWAS
Polycystic Ovary Syndrome Polycystic Ovary Syndrome GWAS
Associations from Text Mining
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