Gene
IRF1
interferon regulatory factor 1
- HGNC 6116↗(opens in a new tab)
- Ensembl gene ENSG00000125347↗(opens in a new tab)
- NCBI Gene 3659↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q31.1
- Coordinates
- Chromosome 5: 132,481,609–132,490,773 (GRCh38)
- Exons
- 10 exons across 9.2 kb
- Protein
- 325 amino acids
- Also known as
- MAR
- MANE Select transcript
- ENST00000245414.9NM_002198.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Other Inborn Errors of Immunity
- Immunodeficiency Disease
One of 170 genes linked to it
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD
How IRF1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.6 kb of the gene's 9.2 kb; 978 of those bases code for the protein.
Genes linked to the same conditions
- ADAadenosine deaminaseShares 1 condition
- AICDAactivation induced cytidine deaminaseShares 1 condition
- AK2adenylate kinase 2Shares 1 condition
- ARPC1Bactin related protein 2/3 complex subunit 1BShares 1 condition
- ARPC5actin related protein 2/3 complex subunit 5Shares 1 condition
- ATMATM serine/threonine kinaseShares 1 condition
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 1 condition
- B2Mbeta-2-microglobulinShares 1 condition
- BACH2BACH transcriptional regulator 2Shares 1 condition
- BCL10BCL10 immune signaling adaptorShares 1 condition
- BCL11BBCL11 transcription factor BShares 1 condition
- BLNKB cell linkerShares 1 condition
Traits linked to IRF1
The Human Phenotype Ontology lists these as features of the rare conditions IRF1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of blood and blood-forming tissues
- Decreased central memory CD8+ T cell proportion
- Decreased naive CD8+ T cell proportion
- Increased CD8+ TEMRA T cell proportion
- Increased effector memory CD8+ T cell proportion
- Reduced total natural killer cell count
- Decreased blood leukocyte number
- Increased transitional B cell proportion
- Low number of red blood cells or hemoglobin
Show 2 more traits
Abnormality of the immune system
- Nontuberculous mycobacterial pulmonary infection
- Pneumonia
- Recurrent mycobacterial infections
- BCGitis
- BCGosis
- Disseminated non-tuberculous mycobacterial infection
- Pustular rash
- Recurrent chest infections
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). IRF1 gene: interferon regulatory factor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/irf1
Dante Labs. IRF1 gene: interferon regulatory factor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/irf1
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