IRF1
Interferon regulatory factor 1
Also known as: IRF1_HUMAN, MAR
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P10914
- Gene
- IRF1
- Ensembl
- ENSG00000125347
- Chromosome
- 5
- Canonical length
- 325 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]
Canonical amino-acid sequenceUniProt
325 residues, UniProt reviewed canonical sequence.
>P10914|IRF1
1 MPITRMRMRP WLEMQINSNQ IPGLIWINKE EMIFQIPWKH AAKHGWDINK DACLFRSWAI
61 HTGRYKAGEK EPDPKTWKAN FRCAMNSLPD IEEVKDQSRN KGSSAVRVYR MLPPLTKNQR
121 KERKSKSSRD AKSKAKRKSC GDSSPDTFSD GLSSSTLPDD HSSYTVPGYM QDLEVEQALT
181 PALSPCAVSS TLPDWHIPVE VVPDSTSDLY NFQVSPMPST SEATTDEDEE GKLPEDIMKL
241 LEQSEWQPTN VDGKGYLLNE PGVQPTSVYG DFSCKEEPEI DSPGGDIGLS LQRVFTDLKN
301 MDATWLDSLL TPVRLPSIQA IPCAPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IRF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.58
- Highest tissue expression
- 134 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 134 nTPM
- lung: 98 nTPM
- spleen: 95 nTPM
- appendix: 83 nTPM
- lymph node: 81 nTPM
- duodenum: 80 nTPM
Single-cell type
- neutrophils: 756 nCPM
- salivary myoepithelial cells: 621 nCPM
- epididymal basal cells: 585 nCPM
- smooth muscle cells: 568 nCPM
- cardiomyocytes: 491 nCPM
- fallopian tube ciliated cells: 473 nCPM
Immune cell
- neutrophil: 624 nTPM
- non-classical monocyte: 274 nTPM
- eosinophil: 258 nTPM
- intermediate monocyte: 244 nTPM
- basophil: 176 nTPM
- classical monocyte: 167 nTPM
Brain region
- medulla oblongata: 32 nTPM
- pons: 29 nTPM
- thalamus: 18 nTPM
- spinal cord: 14 nTPM
- cerebral cortex: 14 nTPM
- amygdala: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IRF1.
Disease | AllUniProt
Conditions IRF1 is implicated in, by any mechanism.
- Gastric cancer (GASC) MIM:613659
- Immunodeficiency 117 (IMD117) MIM:620668
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 60 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Immunodeficiency 117
- Gastric cancer
- Non-small cell lung carcinoma
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.26
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 2.35
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- CD8-positive, alpha-beta T cell differentiation
- cellular response to interferon-beta
- cellular response to mechanical stimulus
- defense response to virus
- immune system process
- negative regulation of cell population proliferation
- negative regulation of DNA-templated transcription
- negative regulation of regulatory T cell differentiation
- positive regulation of DNA-templated transcription
- positive regulation of interferon-beta production
- positive regulation of interleukin-12 production
- positive regulation of transcription by RNA polymerase II
- positive regulation of type I interferon production
- regulation of adaptive immune response
- regulation of CD8-positive, alpha-beta T cell proliferation
- regulation of cell cycle
- regulation of innate immune response
- regulation of MyD88-dependent toll-like receptor signaling pathway
- regulation of transcription by RNA polymerase II
- toll-like receptor 3 signaling pathway
- transcription by RNA polymerase II
- type II interferon-mediated signaling pathway
Molecular functions
- DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- transcription cis-regulatory region binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IRF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IRF1 as an antibody target. Whether an autoantibody or antibody against IRF1 could matter depends on whether native IRF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IRF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label IRF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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