Human Gene IRF5 (ENST00000402030.6) from GENCODE V44
Description: Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 2, mRNA. (from RefSeq NM_032643) RefSeq Summary (NM_001098630): This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]. Gencode Transcript: ENST00000402030.6 Gencode Gene: ENSG00000128604.21 Transcript (Including UTRs) Position: hg38 chr7:128,937,989-128,950,035 Size: 12,047 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr7:128,942,082-128,948,818 Size: 6,737 Coding Exon Count: 8
ID:IRF5_HUMAN DESCRIPTION: RecName: Full=Interferon regulatory factor 5; Short=IRF-5; FUNCTION: Transcription factor involved in the induction of interferons IFNA and INFB and inflammatory cytokines upon virus infection. Activated by TLR7 or TLR8 signaling. SUBUNIT: Homodimer, when phosphorylated. INTERACTION: Q7Z434:MAVS; NbExp=2; IntAct=EBI-3931258, EBI-995373; O43765:SGTA; NbExp=3; IntAct=EBI-3931258, EBI-347996; SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm. PTM: Phosphorylation of serine and threonine residues in a C- terminal autoinhibitory region, stimulates dimerization, transport into the nucleus, assembly with the coactivator CBP/p300 and initiation of transcription. PTM: 'Lys-63'-linked polyubiquitination by TRAF6 is required for activation. DISEASE: Genetic variations in IRF5 are associated with susceptibility to inflammatory bowel disease type 14 (IBD14) [MIM:612245]. IBD14 is a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. DISEASE: Genetic variations in IRF5 are associated with susceptibility to systemic lupus erythematosus type 10 (SLEB10) [MIM:612251]. Systemic lupus erythematosus (SLE) is a chronic, inflammatory and often febrile multisystemic disorder of connective tissue. It affects principally the skin, joints, kidneys and serosal membranes. It is thought to represent a failure of the regulatory mechanisms of the autoimmune system. DISEASE: Genetic variations in IRF5 are a cause of susceptibility to rheumatoid arthritis (RA) [MIM:180300]. It is a systemic inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. SIMILARITY: Belongs to the IRF family. SIMILARITY: Contains 1 IRF tryptophan pentad repeat DNA-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13568
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0042802 identical protein binding GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding
Biological Process: GO:0002376 immune system process GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0019221 cytokine-mediated signaling pathway GO:0032494 response to peptidoglycan GO:0032495 response to muramyl dipeptide GO:0032727 positive regulation of interferon-alpha production GO:0032728 positive regulation of interferon-beta production GO:0032735 positive regulation of interleukin-12 production GO:0043065 positive regulation of apoptotic process GO:0045087 innate immune response GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0051607 defense response to virus GO:0060333 interferon-gamma-mediated signaling pathway GO:0060337 type I interferon signaling pathway