ENSG00000185507


Homo sapiens

Features
Gene ID: ENSG00000185507
  
Biological name :IRF7
  
Synonyms : interferon regulatory factor 7 / IRF7 / Q92985
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: p15.5
Gene start: 612553
Gene end: 615999
  
Corresponding Affymetrix probe sets: 208436_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000380704
Ensembl peptide - ENSP00000436696
Ensembl peptide - ENSP00000434607
Ensembl peptide - ENSP00000434524
Ensembl peptide - ENSP00000434009
Ensembl peptide - ENSP00000433903
Ensembl peptide - ENSP00000432403
Ensembl peptide - ENSP00000329411
Ensembl peptide - ENSP00000331803
Ensembl peptide - ENSP00000380697
Ensembl peptide - ENSP00000380700
NCBI entrez gene - 3665     See in Manteia.
OMIM - 605047
RefSeq - XM_011520066
RefSeq - NM_001572
RefSeq - NM_004029
RefSeq - NM_004031
RefSeq - XM_005252906
RefSeq - XM_005252907
RefSeq - XM_005252909
RefSeq Peptide - NP_004020
RefSeq Peptide - NP_001563
RefSeq Peptide - NP_004022
swissprot - Q92985
swissprot - A0A024RCA2
swissprot - E9PR03
swissprot - M9RSF4
swissprot - E9PIA7
swissprot - E9PSE3
swissprot - E9PQ11
Ensembl - ENSG00000185507
  
Related genetic diseases (OMIM): 616345 - ?Immunodeficiency 39, 616345

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
 irf7ENSDARG00000045661Danio rerio
 IRF7ENSGALG00000014297Gallus gallus
 Irf7ENSMUSG00000025498Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IRF6 / O14896 / interferon regulatory factor 6ENSG0000011759522
IRF5 / Q13568 / interferon regulatory factor 5ENSG0000012860422
IRF3 / Q14653 / interferon regulatory factor 3ENSG0000012645620
IRF4 / Q15306 / interferon regulatory factor 4ENSG0000013726520
IRF8 / Q02556 / interferon regulatory factor 8ENSG0000014096817
IRF9 / Q00978 / interferon regulatory factor 9ENSG0000021392817
IRF2 / P14316 / interferon regulatory factor 2ENSG0000016831010
IRF1 / P10914 / interferon regulatory factor 1ENSG000001253479


Protein motifs (from Interpro)
Interpro ID Name
 IPR001346  Interferon regulatory factor DNA-binding domain
 IPR008984  SMAD/FHA domain superfamily
 IPR017855  SMAD-like domain superfamily
 IPR019471  Interferon regulatory factor-3
 IPR019817  Interferon regulatory factor, conserved site
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II TAS
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002819 regulation of adaptive immune response IDA
 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:0006974 cellular response to DNA damage stimulus TAS
 biological_processGO:0009615 response to virus TAS
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016064 immunoglobulin mediated immune response IEA
 biological_processGO:0019043 establishment of viral latency TAS
 biological_processGO:0032479 regulation of type I interferon production TAS
 biological_processGO:0032481 positive regulation of type I interferon production IEA
 biological_processGO:0032607 interferon-alpha production IEA
 biological_processGO:0032608 interferon-beta production IEA
 biological_processGO:0032727 positive regulation of interferon-alpha production TAS
 biological_processGO:0032728 positive regulation of interferon-beta production IMP
 biological_processGO:0034124 regulation of MyD88-dependent toll-like receptor signaling pathway IEA
 biological_processGO:0034127 regulation of MyD88-independent toll-like receptor signaling pathway IEA
 biological_processGO:0035666 TRIF-dependent toll-like receptor signaling pathway TAS
 biological_processGO:0039530 MDA-5 signaling pathway TAS
 biological_processGO:0045087 innate immune response TAS
 biological_processGO:0045351 type I interferon biosynthetic process IEA
 biological_processGO:0045655 regulation of monocyte differentiation TAS
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0050776 regulation of immune response TAS
 biological_processGO:0051607 defense response to virus IEA
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway TAS
 biological_processGO:0060337 type I interferon signaling pathway TAS
 biological_processGO:0060340 positive regulation of type I interferon-mediated signaling pathway IEA
 biological_processGO:2000110 negative regulation of macrophage apoptotic process TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0010008 endosome membrane TAS
 molecular_functionGO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0000982 transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA


Pathways (from Reactome)
Pathway description
DEx/H-box helicases activate type I IFN and inflammatory cytokines production
Interferon gamma signaling
TICAM1-dependent activation of IRF3/IRF7
Interferon alpha/beta signaling
TRAF3-dependent IRF activation pathway
TRAF6 mediated IRF7 activation
Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling


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:0002721 Immunodeficiency 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000101916 TLR8 / Q9NR97 / toll like receptor 8  / complex / reaction
 ENSG00000127666 Q8IUC6 / TICAM1 / toll like receptor adaptor molecule 1  / complex / reaction
 ENSG00000136560 TANK / Q92844 / TRAF family member associated NFKB activator  / complex / reaction
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / complex / reaction
 ENSG00000115267 IFIH1 / Q9BYX4 / interferon induced with helicase C domain 1  / complex / reaction
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex / reaction
 ENSG00000164342 TLR3 / O15455 / toll like receptor 3  / complex / reaction
 ENSG00000170458 CD14 / P08571 / CD14 molecule  / complex / reaction
 ENSG00000126456 IRF3 / Q14653 / interferon regulatory factor 3  / complex / reaction
 ENSG00000154589 LY96 / Q9Y6Y9 / lymphocyte antigen 96  / complex / reaction
 ENSG00000181481 Q8IUD6 / RNF135 / ring finger protein 135  / complex / reaction
 ENSG00000183735 TBK1 / Q9UHD2 / TANK binding kinase 1  / complex / reaction
 ENSG00000244687 Q13404 / UBE2V1 / ubiquitin conjugating enzyme E2 V1  / reaction
 ENSG00000121060 Q14258 / TRIM25 / tripartite motif containing 25  / complex / reaction
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / reaction
 ENSG00000127191 TRAF2 / Q12933 / TNF receptor associated factor 2  / complex / reaction
 ENSG00000185507 IRF7 / Q92985 / interferon regulatory factor 7  / complex / reaction
 ENSG00000239732 TLR9 / Q9NR96 / toll like receptor 9  / reaction / complex
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / complex / reaction
 ENSG00000184216 IRAK1 / P51617 / interleukin 1 receptor associated kinase 1  / reaction / complex
 ENSG00000107201 DDX58 / O95786 / DExD/H-box helicase 58  / complex / reaction
 ENSG00000196664 TLR7 / Q9NYK1 / toll like receptor 7  / reaction / complex
 ENSG00000172936 MYD88 / Q99836 / myeloid differentiation primary response 88  / reaction / complex
 ENSG00000088888 MAVS / Q7Z434 / mitochondrial antiviral signaling protein  / complex / reaction
 ENSG00000198001 IRAK4 / Q9NWZ3 / interleukin 1 receptor associated kinase 4  / reaction / complex
 ENSG00000263528 IKBKE / Q14164 / inhibitor of nuclear factor kappa B kinase subunit epsilon  / complex / reaction
 ENSG00000131323 TRAF3 / Q13114 / TNF receptor associated factor 3  / complex / reaction
 ENSG00000136869 TLR4 / O00206 / toll like receptor 4  / complex / reaction
 ENSG00000243414 Q86XR7 / TICAM2 / toll like receptor adaptor molecule 2  / complex / reaction






 

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