ENSG00000125347


Homo sapiens

Features
Gene ID: ENSG00000125347
  
Biological name :IRF1
  
Synonyms : interferon regulatory factor 1 / IRF1 / P10914
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q31.1
Gene start: 132481609
Gene end: 132490798
  
Corresponding Affymetrix probe sets: 202531_at (Human Genome U133 Plus 2.0 Array)   238725_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000396318
Ensembl peptide - ENSP00000405655
Ensembl peptide - ENSP00000480887
Ensembl peptide - ENSP00000473661
Ensembl peptide - ENSP00000245414
Ensembl peptide - ENSP00000384406
Ensembl peptide - ENSP00000392455
NCBI entrez gene - 3659     See in Manteia.
OMIM - 147575
RefSeq - NM_002198
RefSeq - XM_011543378
RefSeq - XM_011543379
RefSeq Peptide - NP_002189
swissprot - Q6FHN8
swissprot - R4GNI0
swissprot - V9P921
swissprot - P10914
swissprot - C9J9C5
swissprot - F8WCM1
swissprot - C9JD95
Ensembl - ENSG00000125347
  
Related genetic diseases (OMIM): 147575 - Myelodysplastic syndrome, preleukemic
  211980 - Nonsmall cell lung cancer, somatic, 211980
  613659 - Gastric cancer, somatic, 613659

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 irf1bENSDARG00000043249Danio rerio
 IRF1ENSGALG00000006785Gallus gallus
 Irf1ENSMUSG00000018899Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IRF2 / P14316 / interferon regulatory factor 2ENSG0000016831039
IRF5 / Q13568 / interferon regulatory factor 5ENSG0000012860424
IRF6 / O14896 / interferon regulatory factor 6ENSG0000011759522
IRF8 / Q02556 / interferon regulatory factor 8ENSG0000014096822
IRF4 / Q15306 / interferon regulatory factor 4ENSG0000013726520
IRF3 / Q14653 / interferon regulatory factor 3ENSG0000012645619
IRF9 / Q00978 / interferon regulatory factor 9ENSG0000021392818
IRF7 / Q92985 / interferon regulatory factor 7ENSG0000018550715


Protein motifs (from Interpro)
Interpro ID Name
 IPR001346  Interferon regulatory factor DNA-binding domain
 IPR017431  Interferon regulatory factor-1/2
 IPR019817  Interferon regulatory factor, conserved site
 IPR031215  Interferon regulatory factor 1
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002819 regulation of adaptive immune response TAS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007050 cell cycle arrest IDA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0032481 positive regulation of type I interferon production ISS
 biological_processGO:0032728 positive regulation of interferon-beta production IMP
 biological_processGO:0034124 regulation of MyD88-dependent toll-like receptor signaling pathway ISS
 biological_processGO:0035458 cellular response to interferon-beta IDA
 biological_processGO:0043374 CD8-positive, alpha-beta T cell differentiation IEA
 biological_processGO:0045084 positive regulation of interleukin-12 biosynthetic process IEA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045088 regulation of innate immune response TAS
 biological_processGO:0045590 negative regulation of regulatory T cell differentiation ISS
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0050776 regulation of immune response IEA
 biological_processGO:0051607 defense response to virus IEA
 biological_processGO:0051726 regulation of cell cycle TAS
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway ISS
 biological_processGO:0060337 type I interferon signaling pathway TAS
 biological_processGO:0071260 cellular response to mechanical stimulus IEP
 biological_processGO:2000564 regulation of CD8-positive, alpha-beta T cell proliferation ISS
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IMP
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA


Pathways (from Reactome)
Pathway description
Interferon gamma signaling
Interferon alpha/beta signaling
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001428 Somatic mutation 
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 HP:0006519 Alveolar cell carcinoma 
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 HP:0012126 Stomach cancer "A cancer arising in any part of the stomach." [HPO:probinson]
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 HP:0410067 Increased level of L-fucose in urine "An increase in the level of L-fucose in the urine." [PMID:2311216]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000125347 IRF1 / P10914 / interferon regulatory factor 1  / reaction






 

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