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

Summary

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; AllianceGenome:HGNC:6120
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: mouse all
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Genomic context

Location:: 7q32.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (128937032..128950038)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (130249958..130262927)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (128577086..128590092)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interferon Regulatory Factor 5 Gene Polymorphisms and mRNA Expression Levels Are Associated with Neuromyelitis Optica Spectrum Disorder.
Title: Interferon Regulatory Factor 5 Gene Polymorphisms and mRNA Expression Levels Are Associated with Neuromyelitis Optica Spectrum Disorder.
IRF5 Variants Are Risk Factors for Systemic Lupus Erythematosus in Two Mexican Populations.
Title: IRF5 Variants Are Risk Factors for Systemic Lupus Erythematosus in Two Mexican Populations.
IRF5 suppresses metastasis through the regulation of tumor-derived extracellular vesicles and pre-metastatic niche formation.
Title: IRF5 suppresses metastasis through the regulation of tumor-derived extracellular vesicles and pre-metastatic niche formation.
M6A-induced transcription factor IRF5 contributes to the progression of cervical cancer by upregulating PPP6C.
Title: M6A-induced transcription factor IRF5 contributes to the progression of cervical cancer by upregulating PPP6C.
IRF5 governs macrophage adventitial infiltration to fuel abdominal aortic aneurysm formation.
Title: IRF5 governs macrophage adventitial infiltration to fuel abdominal aortic aneurysm formation.
Role of interferon regulatory factor 5 (IRF5) in tumor progression: Prognostic and therapeutic potential.
Title: Role of interferon regulatory factor 5 (IRF5) in tumor progression: Prognostic and therapeutic potential.
IRF5 promotes glycolysis in the progression of hepatocellular carcinoma and is regulated by TRIM35.
Title: IRF5 promotes glycolysis in the progression of hepatocellular carcinoma and is regulated by TRIM35.
Integrative Functional Genomics Identifies Systemic Lupus Erythematosus Causal Genetic Variant in the IRF5 Risk Locus.
Title: Integrative Functional Genomics Identifies Systemic Lupus Erythematosus Causal Genetic Variant in the IRF5 Risk Locus.
Cytoplasmic localization of IRF5 induces Wnt5a/E-cadherin degradation and promotes gastric cancer cells metastasis.
Title: Cytoplasmic localization of IRF5 induces Wnt5a/E-cadherin degradation and promotes gastric cancer cells metastasis.
IRF5-TNOP3 polymorphisms are associated with elite control of HIV infection: A retrospective study.
Title: IRF5-TNOP3 polymorphisms are associated with elite control of HIV infection: A retrospective study.

Submit: New GeneRIF Correction See all GeneRIFs (228)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

Description
A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. EBI GWAS Catalog EBI GWAS CatalogPubMed
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-63648 (e-PCR)
- UniSTS:80144

IRF5_452 (e-PCR)
- UniSTS:277389

GDB:4585333 (e-PCR)
- UniSTS:2221

STS-U51127 (e-PCR)
- UniSTS:5350

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in immune system process	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine production involved in immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interferon-alpha production	IC Inferred by Curator more info	PubMed
involved_in positive regulation of interferon-beta production	IC Inferred by Curator more info	PubMed
involved_in positive regulation of interleukin-12 production	IC Inferred by Curator more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type I interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to muramyl dipeptide	IDA Inferred from Direct Assay more info	PubMed
involved_in response to peptidoglycan	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: interferon regulatory factor 5

NCBI Reference Sequences (RefSeq)

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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

NG_012306.2 RefSeqGene

Range

5897..18008

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001098627.4 → NP_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

A4D1J8, A8DUA8, A8DUA9, E7EQ16, E7EW54, Q13568, Q1A7B4, Q64GA9, Q64GB1, Q64GB2, Q6RCM8, Q9BQF0

UniProtKB/TrEMBL

A0A0G2UUJ1

Related

ENSP00000419149.1, ENST00000473745.5

Conserved Domains (2) summary

pfam00605
Location:16 → 121

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:248 → 431

IRF-3; Interferon-regulatory factor 3
NM_001098629.3 → NP_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)

AC025594, AK293654, AL713733, AY693665, BC004139, CA444548, U51127

Consensus CDS

CCDS43645.1

UniProtKB/TrEMBL

A0A0G2USB5

Related

ENSP00000349770.5, ENST00000357234.10

Conserved Domains (2) summary

pfam00605
Location:16 → 121

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:264 → 447

IRF-3; Interferon-regulatory factor 3
NM_001098630.3 → NP_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)

AC025594, AK293654, AL713733, AY693666, CA444548, U51127

Consensus CDS

CCDS5808.1

UniProtKB/Swiss-Prot

A4D1J8, A8DUA8, A8DUA9, E7EQ16, E7EW54, Q13568, Q1A7B4, Q64GA9, Q64GB1, Q64GB2, Q6RCM8, Q9BQF0

UniProtKB/TrEMBL

A0A0G2UUJ1

Related

ENSP00000385352.2, ENST00000402030.6

Conserved Domains (2) summary

pfam00605
Location:16 → 121

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:248 → 431

IRF-3; Interferon-regulatory factor 3
NM_001242452.3 → NP_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)

AC025594, AK293654, AL713733, AY693666, CA444548, U51127

Consensus CDS

CCDS56512.1

UniProtKB/Swiss-Prot

Q13568

UniProtKB/TrEMBL

B7Z1M2

Related

ENSP00000419950.1, ENST00000477535.5

Conserved Domains (2) summary

pfam00605
Location:16 → 121

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:162 → 345

IRF-3; Interferon-regulatory factor 3
NM_001347928.2 → NP_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/TrEMBL

A0A0G2USB5

Conserved Domains (2) summary

pfam00605
Location:16 → 121

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:264 → 447

IRF-3; Interferon-regulatory factor 3
NM_001364314.2 → NP_001351243.1 interferon regulatory factor 5 isoform d

Status: REVIEWED

Source sequence(s)

AC025594

Consensus CDS

CCDS43645.1

UniProtKB/TrEMBL

A0A0G2USB5

Conserved Domains (2) summary

pfam00605
Location:16 → 121

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:264 → 447

IRF-3; Interferon-regulatory factor 3
NM_032643.5 → NP_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

A4D1J8, A8DUA8, A8DUA9, E7EQ16, E7EW54, Q13568, Q1A7B4, Q64GA9, Q64GB1, Q64GB2, Q6RCM8, Q9BQF0

UniProtKB/TrEMBL

A0A0G2UUJ1

Conserved Domains (2) summary

pfam00605
Location:16 → 121

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:248 → 431

IRF-3; Interferon-regulatory factor 3