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IRF5 interferon regulatory factor 5 [ Homo sapiens (human) ]

Gene ID: 3663, updated on 14-Jun-2018
Official Symbol
IRF5provided by HGNC
Official Full Name
interferon regulatory factor 5provided by HGNC
Primary source
HGNC:HGNC:6120
See related
Ensembl:ENSG00000128604 MIM:607218; Vega:OTTHUMG00000158410
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLEB10
Summary
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]
Expression
Broad expression in spleen (RPKM 8.6), lymph node (RPKM 6.5) and 25 other tissues See more
Orthologs
See IRF5 in Genome Data Viewer
Location:
7q32.1
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (128937032..128950042)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128577976..128590089)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375497 Neighboring gene kielin/chordin-like protein Neighboring gene filamin C pseudogene Neighboring gene transportin 3 Neighboring gene RNA, 7SL, cytoplasmic 306, pseudogene Neighboring gene ornithine decarboxylase pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Inflammatory bowel disease 14
MedGen: C2677100 OMIM: 612245 GeneReviews: Not available
Compare labs
Systemic lupus erythematosus 10
MedGen: C2677097 OMIM: 612251 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.
NHGRI GWA Catalog
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
NHGRI GWA Catalog
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
NHGRI GWA Catalog
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
NHGRI GWA Catalog
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
NHGRI GWA Catalog
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
NHGRI GWA Catalog
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
NHGRI GWA Catalog
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
NHGRI GWA Catalog
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
NHGRI GWA Catalog
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
NHGRI GWA Catalog
Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.
NHGRI GWA Catalog
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
NHGRI GWA Catalog
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
NHGRI GWA Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
NHGRI GWA Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
NHGRI GWA Catalog
  • Apoptosis, organism-specific biosystem (from WikiPathways)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Interferon Signaling, organism-specific biosystem (from REACTOME)
    Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
  • Interferon alpha/beta signaling, organism-specific biosystem (from REACTOME)
    Interferon alpha/beta signaling, organism-specific biosystemType I interferons (IFNs) are composed of various genes including IFN alpha (IFNA), beta (IFNB), omega, epsilon, and kappa. In humans the IFNA genes are composed of more than 13 subfamily genes, wher...
  • Interferon gamma signaling, organism-specific biosystem (from REACTOME)
    Interferon gamma signaling, organism-specific biosystemInterferon-gamma (IFN-gamma) belongs to the type II interferon family and is secreted by activated immune cells-primarily T and NK cells, but also B-cells and APC. INFG exerts its effect on cells by ...
  • Regulation of toll-like receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Regulation of toll-like receptor signaling pathway, organism-specific biosystem
    Regulation of toll-like receptor signaling pathway
  • Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
    Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
  • Toll-like Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Toll-like Receptor Signaling Pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting microbial pathogens and generating innate immune responses. Toll-like receptors (TLRs) are membrane-bound receptors id...
  • Toll-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    Toll-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting microbial pathogens and generating innate immune responses. Toll-like receptors (TLRs) are membrane-bound receptors id...
  • Toll-like receptor signaling pathway, conserved biosystem (from KEGG)
    Toll-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting microbial pathogens and generating innate immune responses. Toll-like receptors (TLRs) are membrane-bound receptors id...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
interferon regulatory factor 5

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012306.1 RefSeqGene

    Range
    4998..17103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098627.3NP_001092097.2  interferon regulatory factor 5 isoform b

    See identical proteins and their annotated locations for NP_001092097.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 9. The encoded isoform (b) is shorter, compared to isoform d. Variants 2, 3, and 6 encode the same isoform.
    Source sequence(s)
    AL713733, AY504946, BC004201, CA444548, DC427600, U51127
    Consensus CDS
    CCDS5808.1
    UniProtKB/Swiss-Prot
    Q13568
    Related
    ENSP00000419149.1, OTTHUMP00000212910, ENST00000473745.5, OTTHUMT00000350942
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:248431
    IRF-3; Interferon-regulatory factor 3
  2. NM_001098629.2NP_001092099.1  interferon regulatory factor 5 isoform d

    See identical proteins and their annotated locations for NP_001092099.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 9. Variants 5 and 9 encode the same isoform.
    Source sequence(s)
    AK293654, AL713733, AY693665, BC004139, CA444548, U51127
    Consensus CDS
    CCDS43645.1
    UniProtKB/Swiss-Prot
    Q13568
    UniProtKB/TrEMBL
    B7Z1M2, C9JAU6
    Related
    ENSP00000349770.5, OTTHUMP00000212905, ENST00000357234.9, OTTHUMT00000350935
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:264447
    IRF-3; Interferon-regulatory factor 3
  3. NM_001098630.2NP_001092100.1  interferon regulatory factor 5 isoform b

    See identical proteins and their annotated locations for NP_001092100.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and uses an alternate in-frame splice site, compared to variant 9. The encoded isoform (b) is shorter, compared to isoform d. Variants 2, 3, and 6 encode the same isoform.
    Source sequence(s)
    AK293654, AL713733, AY693666, CA444548, U51127
    Consensus CDS
    CCDS5808.1
    UniProtKB/Swiss-Prot
    Q13568
    UniProtKB/TrEMBL
    B7Z1M2
    Related
    ENSP00000385352.2, OTTHUMP00000212904, ENST00000402030.6, OTTHUMT00000350934
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:248431
    IRF-3; Interferon-regulatory factor 3
  4. NM_001242452.2NP_001229381.1  interferon regulatory factor 5 isoform e

    See identical proteins and their annotated locations for NP_001229381.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and lacks an alternate in-frame exon, compared to variant 9. The encoded isoform (e) is shorter, compared to isoform d.
    Source sequence(s)
    AK293654, AL713733, AY693666, CA444548, U51127
    Consensus CDS
    CCDS56512.1
    UniProtKB/Swiss-Prot
    Q13568
    UniProtKB/TrEMBL
    B7Z1M2
    Related
    ENSP00000419950.1, OTTHUMP00000212907, ENST00000477535.5, OTTHUMT00000350938
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:162345
    IRF-3; Interferon-regulatory factor 3
  5. NM_001347928.1NP_001334857.1  interferon regulatory factor 5 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: represents the longest transcript. Variants 5 and 9 encode the same isoform. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence and results in oncogenic overexpression in Hodgkin lymphoma. (PMID: 26279299)
    Source sequence(s)
    AC025594, CA444548, KP843528
    Consensus CDS
    CCDS43645.1
    UniProtKB/Swiss-Prot
    Q13568
    UniProtKB/TrEMBL
    A0A0G2USB5, C9JAU6
  6. NM_001364314.1NP_001351243.1  interferon regulatory factor 5 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC025594
  7. NM_032643.4NP_116032.1  interferon regulatory factor 5 isoform b

    See identical proteins and their annotated locations for NP_116032.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site, compared to variant 9. The encoded isoform (b) is shorter, compared to isoform d. Variants 2, 3, and 6 encode the same isoform.
    Source sequence(s)
    AL713733, BC004139, CA444548, U51127
    Consensus CDS
    CCDS5808.1
    UniProtKB/Swiss-Prot
    Q13568
    Related
    ENSP00000249375.4, ENST00000249375.8
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:248431
    IRF-3; Interferon-regulatory factor 3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    128937032..128950042
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516160.1XP_011514462.1  interferon regulatory factor 5 isoform X1

    See identical proteins and their annotated locations for XP_011514462.1

    UniProtKB/Swiss-Prot
    Q13568
    UniProtKB/TrEMBL
    C9JAU6
    Related
    ENSP00000418037.2, ENST00000489702.6
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:264447
    IRF-3; Interferon-regulatory factor 3
  2. XM_011516161.2XP_011514463.1  interferon regulatory factor 5 isoform X2

    UniProtKB/Swiss-Prot
    Q13568
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:254437
    IRF-3; Interferon-regulatory factor 3
  3. XM_011516162.2XP_011514464.1  interferon regulatory factor 5 isoform X3

    UniProtKB/Swiss-Prot
    Q13568
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:238421
    IRF-3; Interferon-regulatory factor 3
  4. XM_006715974.2XP_006716037.1  interferon regulatory factor 5 isoform X1

    See identical proteins and their annotated locations for XP_006716037.1

    UniProtKB/Swiss-Prot
    Q13568
    UniProtKB/TrEMBL
    C9JAU6
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:264447
    IRF-3; Interferon-regulatory factor 3
  5. XM_011516164.1XP_011514466.1  interferon regulatory factor 5 isoform X3

    UniProtKB/Swiss-Prot
    Q13568
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:238421
    IRF-3; Interferon-regulatory factor 3
  6. XM_011516158.3XP_011514460.1  interferon regulatory factor 5 isoform X1

    See identical proteins and their annotated locations for XP_011514460.1

    UniProtKB/Swiss-Prot
    Q13568
    UniProtKB/TrEMBL
    C9JAU6
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:264447
    IRF-3; Interferon-regulatory factor 3
  7. XM_011516163.3XP_011514465.1  interferon regulatory factor 5 isoform X3

    UniProtKB/Swiss-Prot
    Q13568
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:238421
    IRF-3; Interferon-regulatory factor 3
  8. XM_005250317.4XP_005250374.1  interferon regulatory factor 5 isoform X1

    UniProtKB/Swiss-Prot
    Q13568
    UniProtKB/TrEMBL
    C9JAU6
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:264447
    IRF-3; Interferon-regulatory factor 3
  9. XM_011516159.3XP_011514461.1  interferon regulatory factor 5 isoform X1

    See identical proteins and their annotated locations for XP_011514461.1

    UniProtKB/Swiss-Prot
    Q13568
    UniProtKB/TrEMBL
    C9JAU6
    Conserved Domains (2) summary
    pfam00605
    Location:16121
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:264447
    IRF-3; Interferon-regulatory factor 3
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