IRF1
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Also known as MAR
Summary
IRF1 (interferon regulatory factor 1, HGNC:6116) is a protein-coding gene on chromosome 5q31.1, encoding Interferon regulatory factor 1 (P10914). Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses.
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.
Source: NCBI Gene 3659 — RefSeq curated summary.
At a glance
- Gene–disease (curated): immunodeficiency 117 (Strong, GenCC)
- GWAS associations: 43
- Clinical variants (ClinVar): 59 total — 4 pathogenic
- Phenotypes (HPO): 41
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
- Transcription factor: yes — 184 downstream targets (CollecTRI)
- MANE Select transcript:
NM_002198
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6116 |
| Approved symbol | IRF1 |
| Name | interferon regulatory factor 1 |
| Location | 5q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MAR |
| Ensembl gene | ENSG00000125347 |
| Ensembl biotype | protein_coding |
| OMIM | 147575 |
| Entrez | 3659 |
Gene structure
Transcript identifiers
Ensembl transcripts: 54 — 20 protein_coding, 17 protein_coding_CDS_not_defined, 13 nonsense_mediated_decay, 4 retained_intron
ENST00000245414, ENST00000405885, ENST00000437654, ENST00000439555, ENST00000443093, ENST00000458069, ENST00000459982, ENST00000463784, ENST00000472045, ENST00000476613, ENST00000493208, ENST00000613424, ENST00000679440, ENST00000679499, ENST00000679500, ENST00000679522, ENST00000679620, ENST00000679633, ENST00000679700, ENST00000679743, ENST00000679762, ENST00000679786, ENST00000679820, ENST00000679860, ENST00000679921, ENST00000679945, ENST00000679964, ENST00000680139, ENST00000680237, ENST00000680352, ENST00000680380, ENST00000680562, ENST00000680594, ENST00000680796, ENST00000680848, ENST00000680903, ENST00000681049, ENST00000681197, ENST00000681240, ENST00000681336, ENST00000681458, ENST00000681462, ENST00000681573, ENST00000681584, ENST00000681595, ENST00000681603, ENST00000681634, ENST00000681694, ENST00000681715, ENST00000681749, ENST00000886279, ENST00000886280, ENST00000886281, ENST00000965376
RefSeq mRNA: 3 — MANE Select: NM_002198
NM_001354924, NM_001354925, NM_002198
CCDS: CCDS4155, CCDS93778, CCDS93779
Canonical transcript exons
ENST00000245414 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000854378 | 132484362 | 132484497 |
| ENSE00000854380 | 132486251 | 132486373 |
| ENSE00000854381 | 132486557 | 132486686 |
| ENSE00001124173 | 132481609 | 132484075 |
| ENSE00001886256 | 132490545 | 132490773 |
| ENSE00003350216 | 132487926 | 132488025 |
| ENSE00003469309 | 132489392 | 132489483 |
| ENSE00003491506 | 132486795 | 132486844 |
| ENSE00003550886 | 132486954 | 132487130 |
| ENSE00003786501 | 132485667 | 132485716 |
Expression profiles
Bgee: expression breadth ubiquitous, 265 present calls, max score 98.94.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 121.9332 / max 5574.9431, expressed in 1822 samples.
FANTOM5 promoters (15 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 63327 | 119.1080 | 1821 |
| 63328 | 0.8814 | 176 |
| 63334 | 0.5437 | 224 |
| 63323 | 0.2787 | 117 |
| 63319 | 0.2732 | 69 |
| 63321 | 0.2434 | 99 |
| 63324 | 0.1562 | 60 |
| 63322 | 0.1296 | 63 |
| 63330 | 0.0864 | 17 |
| 63326 | 0.0852 | 25 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 98.94 | gold quality |
| monocyte | CL:0000576 | 98.40 | gold quality |
| leukocyte | CL:0000738 | 98.35 | gold quality |
| mononuclear cell | CL:0000842 | 98.31 | gold quality |
| blood | UBERON:0000178 | 97.94 | gold quality |
| vena cava | UBERON:0004087 | 97.38 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.68 | gold quality |
| spleen | UBERON:0002106 | 96.61 | gold quality |
| bone marrow cell | CL:0002092 | 96.02 | gold quality |
| vermiform appendix | UBERON:0001154 | 95.70 | gold quality |
| right lung | UBERON:0002167 | 95.70 | gold quality |
| lymph node | UBERON:0000029 | 94.94 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.62 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.48 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.31 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.18 | gold quality |
| gall bladder | UBERON:0002110 | 94.16 | gold quality |
| small intestine | UBERON:0002108 | 93.93 | gold quality |
| caecum | UBERON:0001153 | 93.79 | gold quality |
| rectum | UBERON:0001052 | 93.62 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.09 | gold quality |
| apex of heart | UBERON:0002098 | 92.82 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.70 | gold quality |
| duodenum | UBERON:0002114 | 92.40 | gold quality |
| bone marrow | UBERON:0002371 | 92.36 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.27 | gold quality |
| omental fat pad | UBERON:0010414 | 92.17 | gold quality |
| type B pancreatic cell | CL:0000169 | 92.14 | silver quality |
| peritoneum | UBERON:0002358 | 92.11 | gold quality |
| transverse colon | UBERON:0001157 | 92.09 | gold quality |
Single-cell (SCXA)
Detected in 14 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8884 | yes | 1407.75 |
| E-HCAD-4 | yes | 92.16 |
| E-CURD-88 | yes | 41.70 |
| E-CURD-122 | yes | 39.01 |
| E-CURD-112 | yes | 24.11 |
| E-HCAD-1 | yes | 5.82 |
| E-HCAD-11 | no | 4342.82 |
| E-MTAB-6379 | no | 1372.35 |
| E-GEOD-76312 | no | 1266.92 |
| E-MTAB-7606 | no | 753.03 |
| E-MTAB-9467 | no | 30.12 |
| E-MTAB-10137 | no | 8.61 |
| E-MTAB-9543 | no | 2.37 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
184 targets.
| Target | Regulation |
|---|---|
| ACHE | |
| ADAM2 | |
| AGTR2 | Unknown |
| AKT1 | Repression |
| BBC3 | Unknown |
| BCL2 | Repression |
| BCL2L2 | Repression |
| BIRC3 | |
| BIRC5 | Repression |
| BLMH | |
| C1R | Unknown |
| C4B | |
| CAMK4 | |
| CASP1 | Activation |
| CASP7 | Activation |
| CASP8 | Unknown |
| CASP9 | Activation |
| CAT | |
| CCL19 | Activation |
| CCL2 | Activation |
| CCL4 | |
| CCL5 | Unknown |
| CCNB1 | Repression |
| CCND1 | Activation |
| CCNE1 | Repression |
| CCR5 | |
| CD200 | Activation |
| CD274 | Activation |
| CD38 | |
| CD40 | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0050.1 | IRF1 | Interferon-regulatory factors |
| MA0050.2 | IRF1 | Interferon-regulatory factors |
JASPAR matrix evidence (PMIDs): PMID:7687740, PMID:21803131
Upstream regulators (CollecTRI, top): CEBPA, CIITA, CREBBP, DOT1L, HAND1, HIVEP1, IRF1, IRF2, IRF3, IRF4, IRF6, IRF8, NFKB1, NFKB, PPARG, RELA, STAT1, STAT2, STAT3, STAT4, STAT5A, STAT5B, STAT6, TP53
miRNA regulators (miRDB)
105 targeting IRF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-4671-3P | 99.88 | 72.46 | 1045 |
Literature-anchored findings (GeneRIF, showing 40)
- IRF-1 exerts a pivotal role in granulocytic differentiation, and its induction by G-CSF represents a limiting step in the early events of myeloid cell differentiation. (PMID:11716756)
- Review: Stimulation of interferon regulatory factor-1 by prolactin (PMID:11721695)
- IFNtau effect on IRF-1 expression is primarily regulated by tyrosine-phosphorylated Stat1alpha or Stat1beta dimers (PMID:11804954)
- This review focuses on the induction and function of IRF-1 during M. tuberculosis infection (PMID:11846972)
- This review focuses on IRF-1 is a negative regulator of cell proliferation. (PMID:11846974)
- Isolation and characterization of a human STAT1 gene regulatory element. Inducibility by interferon (IFN) types I and II and role of IFN regulatory factor-1. (PMID:11909852)
- Host defense responses to infection by Mycobacterium tuberculosis. Induction of IRF-1 and a serine protease inhibitor (PMID:11948194)
- IFN regulatory factor-1 regulates IFN-gamma-dependent cathepsin S expression (PMID:11970993)
- IRF-1 associated with resistance to antiestrogens (PMID:12067985)
- Interferons inhibit tumor necrosis factor-alpha-mediated matrix metalloproteinase-9 activation via interferon regulatory factor-1 binding competition with NF-kappa B (PMID:12105194)
- VCAM-1 expression via effects on interferon regulatory factor-1 expression and activity (PMID:12115600)
- Promoter single nucleotide polymorphisms were detected and their possible contribution to T-lymphocyte helper 1 response in chronic hepatitis C was studied. Interferon-beta therapy increased the CD4(+) cell population. (PMID:12162881)
- STAT-1, IRF-1, and RAR-beta expression were enhanced by IFN-gamma and ATRA in combination, and to a greater degree in BALM-3 cells than in BALM-1 cells, suggesting that these IFN-gamma related genes were involved in the induction of apoptosis. (PMID:12191570)
- IRF-1 is controlled by two distinct signalling pathways; a JAK/STAT-signalling pathway in viral infected cells and an ATM-signalling pathway in DNA damaged cells. (PMID:12420214)
- GRIM-19 protein inhibits the cell-transforming property of this protein via a physical interaction. (PMID:12433281)
- IRF-1 and IRF-2 induced by IFN-gamma bind to three distinct IL-4 promoter sites and function as transcriptional repressors (PMID:12479817)
- IRF-1-CEBPbeta complex activate the promoter of IL-18 binding protein. (PMID:12482935)
- IRF-1 is a potential mediator of IFN-gamma-induced attenuation of telomerase activity and hTERT expression (PMID:12545159)
- expression of IRF-1-dependent genes in neurons plays a role in ischemic neuronal death. (PMID:12677441)
- Identification of the domain of interferon regulatory factor-1 responsible for transactivation. (PMID:12711307)
- IRF1 represses CDK2 gene expression by interfering with SP1-dependent transcriptional activation. (PMID:12732645)
- IRF1 is one of the transcription factors responsible for the induced coexpression of NF-kappa B activator 1 (Act1) and CD40 in lung epithelial A549 cells by inflammatory cytokines. (PMID:12759449)
- These data indicate that interferon regulatory factor-1 is a hallmark of the gliadin-mediated inflammation in celiac disease. (PMID:12788988)
- Expression of IRF-1 is altered in human endometrioid adenocarcinoma compared with normal endometrium and postmenopausal endometrium. (PMID:14599866)
- the IRF1 HinfI gene polymorphisms do not appear to be involved in susceptibility to celiac disease (PMID:14675396)
- IRF1 has a role in up-regulation of human caspase-8 by interferon-gamma in breast tumor cells (PMID:14993214)
- Measles virus upregulates IRF-1 in a manner that is independent of IFN but dependent on the JAK/STAT pathway. This induction of IRF-1 appears to suppress cell growth, although the extent seems to vary among MeV strains. (PMID:15078941)
- IRF-1 mediates the proapoptotic but not cell cycle arrest effects of the steroidal antiestrogen ICI 182,780 (PMID:15173018)
- Results suggest that the functional interplay between interferon regulatory factors 1 and 2 serves as an elaborate and cooperative mechanism for regulation of interleukin-7 production essential for local immune regulation within human intestinal mucosa. (PMID:15226432)
- a novel tumor necrosis factor (ligand) superfamily, member 10-mediated tumor suppressor activity of interferon regulatory factor 1 and suggest a mechanistic basis for the synergistic antitumor activities of certain retinoids and interferons (PMID:15241475)
- IFN regulatory factor 1 is involved in TNF-alpha-induced VCAM-1 expression and monocyte adhesion to TNF-alpha-activated endothelial cells. (PMID:15265939)
- IRF-1 is one of the key host factors that regulate intracellular HCV replication through modulation of interferon-stimulated-gene-mediated antiviral responses. (PMID:15331704)
- interleukin-12 p35 gene transcription is activated by interferon regulatory factor-1 and interferon consensus sequence-binding protein (PMID:15489234)
- IRF-1-p300 interface as an allosteric modifier of DNA-dependent acetylation of p53 at the p21 promoter (PMID:15509808)
- IFN-gamma enhances TRAIL-induced apoptosis through IRF-1 (PMID:15511228)
- therapies designed to enhance IRF-1 expression within tumor cells may represent novel treatment strategies for breast cancer (PMID:15548708)
- IFN-gamma-IRF system is involved in BPAG1 gene regulation in type-1 helper T-cell inflammatory skin conditions, such as psoriasis vulgaris (PMID:15560761)
- the interferon signaling pathway and the human glucocorticoid receptor gene 1A promoter interact in T-lymphocytes (PMID:15576464)
- p27Kip1 inhibits hTERT mRNA expression and telomerase activity through post-transcriptional up-regulation by IFN-gamma/IRF-1 signaling (PMID:15710386)
- TPO and IFN-gamma activate the expression of TAP1 via a new mechanism that involves functional cooperation between STAT1 and IRF-2 on the TAP1 promoter (PMID:15778351)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | irf1b | ENSDARG00000043249 |
| danio_rerio | irf1a | ENSDARG00000043492 |
| mus_musculus | Irf1 | ENSMUSG00000018899 |
| rattus_norvegicus | Irf1 | ENSRNOG00000008144 |
Paralogs (8): IRF6 (ENSG00000117595), IRF3 (ENSG00000126456), IRF5 (ENSG00000128604), IRF4 (ENSG00000137265), IRF8 (ENSG00000140968), IRF2 (ENSG00000168310), IRF7 (ENSG00000185507), IRF9 (ENSG00000213928)
Protein
Protein identifiers
Interferon regulatory factor 1 — P10914 (reviewed: P10914)
All UniProt accessions (27): P10914, A0A7P0T7Z4, A0A7P0T8D8, A0A7P0T8F2, A0A7P0T8P0, A0A7P0T9Q9, A0A7P0T9W2, A0A7P0TAD7, A0A7P0TAJ7, A0A7P0TAL6, A0A7P0TAS4, A0A7P0TAS9, A0A7P0TAU2, A0A7P0TAY3, A0A7P0TAZ9, A0A7P0TBA1, A0A7P0TBL0, A0A7P0Z474, A0A7P0Z4G2, B4DQF0, C9J9C5, C9JD95, F8WCM1, Q6FHN8, R4GNI0, V9P921, X5D3F6
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses. Regulates transcription of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage. Stimulates both innate and acquired immune responses through the activation of specific target genes and can act as a transcriptional activator and repressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters. Has an essentail role in IFNG-dependent immunity to mycobacteria. Competes with the transcriptional repressor ZBED2 for binding to a common consensus sequence in gene promoters. Its target genes for transcriptional activation activity include: genes involved in anti-viral response, such as IFN-alpha/beta, RIGI, TNFSF10/TRAIL, ZBP1, OAS1/2, PIAS1/GBP, EIF2AK2/PKR and RSAD2/viperin; antibacterial response, such as GBP2, GBP5 and NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A; apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immune response, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNA damage responses and DNA repair, such as POLQ/POLH; MHC class I expression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B and B2M and MHC class II expression, such as CIITA; metabolic enzymes, such as ACOD1/IRG1. Represses genes involved in anti-proliferative response, such as BIRC5/survivin, CCNB1, CCNE1, CDK1, CDK2 and CDK4 and in immune response, such as FOXP3, IL4, ANXA2 and TLR4. Stimulates p53/TP53-dependent transcription through enhanced recruitment of EP300 leading to increased acetylation of p53/TP53. Plays an important role in immune response directly affecting NK maturation and activity, macrophage production of IL12, Th1 development and maturation of CD8+ T-cells. Also implicated in the differentiation and maturation of dendritic cells and in the suppression of regulatory T (Treg) cells development. Acts as a tumor suppressor and plays a role not only in antagonism of tumor cell growth but also in stimulating an immune response against tumor cells.
Subunit / interactions. Monomer. Homodimer. Interacts with EP300. Interacts with MYD88. Interacts with PIAS3. Interacts with SPOP.
Subcellular location. Nucleus. Cytoplasm.
Post-translational modifications. Phosphorylated by CK2 and this positively regulates its activity. Sumoylation represses the transcriptional activity and displays enhanced resistance to protein degradation. Sumoylated by UBE2I/UBC9 and SUMO1. Inactivates the tumor suppressor activity. Elevated levels in tumor cells. Major site is Lys-275. Sumoylation is enhanced by PIAS3. Desumoylated by SENP1 in tumor cells and appears to compete with ubiquitination on C-terminal sites. Ubiquitinated in a SPOP-depedent manner. Appears to compete with sumoylation on C-terminal sites.
Disease relevance. Gastric cancer (GASC) [MIM:613659] A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. Immunodeficiency 117 (IMD117) [MIM:620668] An autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood, after exposure to weakly virulent mycobacteria. Affected individuals develop mycobacterial disease after BCG (bacille Calmette-Guerin) vaccination. Immunologic workup shows impaired development of myeloid and lymphoid cell subsets that secrete and respond to gamma-interferon. The disease is caused by variants affecting the gene represented in this entry.
Activity regulation. Activated by MYD88.
Induction. By viruses and IFN. Induced by HPV16 E5. Induced by HIV. By interferon (IFN). Induced by N-methyl-N’-nitro-N-nitrosoguanidine.
Miscellaneous. Deletion or rearrangement of IRF1 are found in preleukemic myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML).
Similarity. Belongs to the IRF family.
RefSeq proteins (3): NP_001341853, NP_001341854, NP_002189* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001346 | Interferon_reg_fact_DNA-bd_dom | Domain |
| IPR017431 | IRF1/IRF2 | Family |
| IPR019817 | Interferon_reg_fac_CS | Conserved_site |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
Pfam: PF00605
UniProt features (17 total): mutagenesis site 4, sequence conflict 3, sequence variant 3, cross-link 2, chain 1, DNA-binding region 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P10914-F1 | 66.65 | 0.33 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 78, 275, 299
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 67 | no effect on transcriptional activity. |
| 78 | loss of acetylation. partial loss of dna-binding and transcriptional activity. |
| 275 | some loss of sumoylation. partial inhibition of acetylation and activity. abolishes sumoylation, diminished ubiquitinati |
| 299 | large loss of sumoylation. abolishes sumoylation, diminished ubiquitination, higher resistance to degradation, and incre |
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-5620971 | Pyroptosis |
| R-HSA-877300 | Interferon gamma signaling |
| R-HSA-909733 | Interferon alpha/beta signaling |
| R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
| R-HSA-9909649 | Regulation of PD-L1(CD274) transcription |
| R-HSA-109582 | Hemostasis |
| R-HSA-1280215 | Cytokine Signaling in Immune system |
| R-HSA-168256 | Immune System |
| R-HSA-5218859 | Regulated Necrosis |
| R-HSA-5357801 | Programmed Cell Death |
| R-HSA-913531 | Interferon Signaling |
MSigDB gene sets: 701 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, PID_TELOMERASE_PATHWAY, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, MODULE_45, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP
GO Biological Process (26): immune system process (GO:0002376), regulation of adaptive immune response (GO:0002819), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), apoptotic process (GO:0006915), negative regulation of cell population proliferation (GO:0008285), positive regulation of type I interferon production (GO:0032481), positive regulation of interferon-beta production (GO:0032728), positive regulation of interleukin-12 production (GO:0032735), regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124), toll-like receptor 3 signaling pathway (GO:0034138), cellular response to interferon-beta (GO:0035458), CD8-positive, alpha-beta T cell differentiation (GO:0043374), regulation of innate immune response (GO:0045088), negative regulation of regulatory T cell differentiation (GO:0045590), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), defense response to virus (GO:0051607), regulation of cell cycle (GO:0051726), type II interferon-mediated signaling pathway (GO:0060333), cellular response to mechanical stimulus (GO:0071260), regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564), regulation of DNA-templated transcription (GO:0006355), regulation of gene expression (GO:0010468), innate immune response (GO:0045087)
GO Molecular Function (9): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565), protein binding (GO:0005515)
GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Interferon Signaling | 2 |
| Regulated Necrosis | 1 |
| Hemostasis | 1 |
| Regulation of PD-L1(CD274) expression | 1 |
| Immune System | 1 |
| Programmed Cell Death | 1 |
| Cytokine Signaling in Immune system | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 4 |
| cellular anatomical structure | 4 |
| DNA-templated transcription | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of immune response | 2 |
| transcription by RNA polymerase II | 2 |
| positive regulation of cytokine production | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription cis-regulatory region binding | 2 |
| biological_process | 1 |
| adaptive immune response | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| regulation of type I interferon production | 1 |
| type I interferon production | 1 |
| positive regulation of type I interferon production | 1 |
| interferon-beta production | 1 |
| regulation of interferon-beta production | 1 |
| interleukin-12 production | 1 |
| regulation of interleukin-12 production | 1 |
| MyD88-dependent toll-like receptor signaling pathway | 1 |
| regulation of toll-like receptor signaling pathway | 1 |
| endolysosomal toll-like receptor signaling pathway | 1 |
| response to interferon-beta | 1 |
| cellular response to cytokine stimulus | 1 |
| CD8-positive, alpha-beta T cell activation | 1 |
| alpha-beta T cell differentiation | 1 |
| regulation of response to biotic stimulus | 1 |
| regulation of defense response | 1 |
| regulation of response to external stimulus | 1 |
| innate immune response | 1 |
| regulatory T cell differentiation | 1 |
| negative regulation of T cell differentiation | 1 |
| regulation of regulatory T cell differentiation | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| positive regulation of RNA biosynthetic process | 1 |
Protein interactions and networks
STRING
3908 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IRF1 | STAT1 | P42224 | 997 |
| IRF1 | MYD88 | P78397 | 956 |
| IRF1 | IRF8 | Q02556 | 947 |
| IRF1 | SPI1 | P17947 | 936 |
| IRF1 | EP300 | Q09472 | 932 |
| IRF1 | STAT2 | P52630 | 909 |
| IRF1 | IFNG | P01579 | 908 |
| IRF1 | JUN | P05412 | 905 |
| IRF1 | IFNB1 | P01574 | 864 |
| IRF1 | HDAC1 | Q13547 | 849 |
| IRF1 | STAT3 | P40763 | 839 |
| IRF1 | IRF2 | P14316 | 831 |
| IRF1 | IFNA13 | P01562 | 828 |
| IRF1 | TLR3 | O15455 | 782 |
| IRF1 | CXCL10 | P02778 | 781 |
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IRF1 | SUMO1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| IRF1 | SUMO1 | psi-mi:“MI:0195”(covalent binding) | 0.540 |
| IRF1 | IRF3 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| IRF1 | IRF3 | psi-mi:“MI:0915”(physical association) | 0.540 |
| IRF3 | IRF1 | psi-mi:“MI:0914”(association) | 0.540 |
| E7 | IRF1 | psi-mi:“MI:0915”(physical association) | 0.530 |
| E7 | IRF1 | psi-mi:“MI:0407”(direct interaction) | 0.530 |
| IRF1 | E7 | psi-mi:“MI:0915”(physical association) | 0.530 |
| NFE2L2 | IRF1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| IRF1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| IRF1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| IRF1 | NCL | psi-mi:“MI:0915”(physical association) | 0.400 |
| IRF1 | CCL2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IFI27 | IRF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FLOT1 | IRF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IRF1 | E7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IRF1 | IRF9 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDKN1B | IRF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IRF1 | QARS1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (132): IRF1 (Reconstituted Complex), IRF1 (Affinity Capture-Western), EP300 (Reconstituted Complex), IRF1 (Protein-peptide), IRF1 (Biochemical Activity), MDM2 (Affinity Capture-Western), tat (Affinity Capture-Western), IRF1 (Biochemical Activity), IRF1 (Affinity Capture-Western), TRAF6 (Affinity Capture-Western), BIRC3 (Affinity Capture-Western), IRF1 (Two-hybrid), IRF1 (Reconstituted Complex), IRF1 (Affinity Capture-Western), XAF1 (Affinity Capture-Western)
ESM2 similar proteins: A0FIN4, A2VD01, A9ZLX4, D2HNW6, D4A7U2, O88974, O94988, P10914, P14316, P15314, P16236, P17433, P17947, P23570, P23906, P49140, Q00IB7, Q13506, Q13905, Q15047, Q1LY51, Q3B7M3, Q3SZP0, Q3TTA7, Q3UWM4, Q4V7W5, Q5HYC2, Q5RJA1, Q5XJV7, Q61122, Q62722, Q6A098, Q6AI12, Q6BDS1, Q6DFR2, Q6GQL0, Q6PKU1, Q6ZMT4, Q6ZNC4, Q80TJ7
Diamond homologs: A0FIN4, O14896, P10914, P14316, P15314, P23570, P23611, P23906, P56477, P70671, P97431, Q00978, Q02556, Q08DD6, Q13568, Q14653, Q15306, Q3SZP0, Q4JF28, Q58DJ0, Q61179, Q64287, Q764M6, Q8R4E0, Q90643, Q90871, Q90876, Q98925, Q92985, P70434, F5HF68
SIGNOR signaling
9 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IRF1 | “up-regulates activity” | IRF8 | binding |
| SP2 | “up-regulates activity” | IRF1 | binding |
| IRF1 | “up-regulates quantity by expression” | SOCS1 | “transcriptional regulation” |
| IRF1 | “down-regulates quantity by repression” | DST | “transcriptional regulation” |
| IRF1 | “up-regulates quantity by expression” | SOCS2 | “transcriptional regulation” |
| IKBKE | “down-regulates activity” | IRF1 | phosphorylation |
| MDM2 | “down-regulates quantity” | IRF1 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 14 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Cytokine Signaling in Immune system | 5 | 18.5× | 7e-04 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — PCM.
Clinical variants and AI predictions
ClinVar
59 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 0 |
| Uncertain significance | 19 |
| Likely benign | 1 |
| Benign | 14 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 14720 | NM_002198.3(IRF1):c.22A>T (p.Met8Leu) | Pathogenic |
| 14721 | NM_002198.3(IRF1):c.31T>C (p.Trp11Arg) | Pathogenic |
| 2686000 | NM_002198.3(IRF1):c.385C>T (p.Arg129Ter) | Pathogenic |
| 2686001 | NM_002198.3(IRF1):c.103C>T (p.Gln35Ter) | Pathogenic |
SpliceAI
1767 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:132484073:CCC:C | acceptor_gain | 1.0000 |
| 5:132484074:CCC:C | acceptor_gain | 1.0000 |
| 5:132484356:TCTTA:T | donor_loss | 1.0000 |
| 5:132484357:CTTAC:C | donor_loss | 1.0000 |
| 5:132484358:TTA:T | donor_loss | 1.0000 |
| 5:132484359:TACCC:T | donor_loss | 1.0000 |
| 5:132484360:A:AC | donor_gain | 1.0000 |
| 5:132484360:AC:A | donor_gain | 1.0000 |
| 5:132484360:ACC:A | donor_gain | 1.0000 |
| 5:132484360:ACCC:A | donor_gain | 1.0000 |
| 5:132484361:C:CA | donor_loss | 1.0000 |
| 5:132484361:C:CC | donor_gain | 1.0000 |
| 5:132484361:CC:C | donor_gain | 1.0000 |
| 5:132484361:CCC:C | donor_gain | 1.0000 |
| 5:132484361:CCCC:C | donor_gain | 1.0000 |
| 5:132484363:C:CA | donor_gain | 1.0000 |
| 5:132484388:T:TA | donor_gain | 1.0000 |
| 5:132484393:A:AC | donor_gain | 1.0000 |
| 5:132484394:C:CC | donor_gain | 1.0000 |
| 5:132484394:CAG:C | donor_gain | 1.0000 |
| 5:132484493:AAGAG:A | acceptor_gain | 1.0000 |
| 5:132484494:AGAG:A | acceptor_gain | 1.0000 |
| 5:132484495:GAG:G | acceptor_gain | 1.0000 |
| 5:132484496:AG:A | acceptor_gain | 1.0000 |
| 5:132484497:GC:G | acceptor_loss | 1.0000 |
| 5:132484498:C:CC | acceptor_gain | 1.0000 |
| 5:132484498:CTG:C | acceptor_loss | 1.0000 |
| 5:132484499:T:A | acceptor_loss | 1.0000 |
| 5:132484505:C:CT | acceptor_gain | 1.0000 |
| 5:132485661:CTTTA:C | donor_loss | 1.0000 |
AlphaMissense
2163 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:132486986:A:G | M111T | 1.000 |
| 5:132486989:C:G | R110P | 1.000 |
| 5:132486992:T:G | Y109S | 1.000 |
| 5:132486993:A:C | Y109D | 1.000 |
| 5:132486993:A:G | Y109H | 1.000 |
| 5:132486993:A:T | Y109N | 1.000 |
| 5:132486995:A:T | V108E | 1.000 |
| 5:132486998:C:G | R107P | 1.000 |
| 5:132486999:G:C | R107G | 1.000 |
| 5:132487004:G:T | A105D | 1.000 |
| 5:132487014:C:G | G102R | 1.000 |
| 5:132487039:C:A | E93D | 1.000 |
| 5:132487039:C:G | E93D | 1.000 |
| 5:132487046:A:C | I91S | 1.000 |
| 5:132487046:A:T | I91N | 1.000 |
| 5:132487049:T:A | D90V | 1.000 |
| 5:132487050:C:G | D90H | 1.000 |
| 5:132487055:A:G | L88P | 1.000 |
| 5:132487055:A:T | L88Q | 1.000 |
| 5:132487058:G:A | S87F | 1.000 |
| 5:132487059:A:G | S87P | 1.000 |
| 5:132487060:G:C | N86K | 1.000 |
| 5:132487060:G:T | N86K | 1.000 |
| 5:132487061:T:A | N86I | 1.000 |
| 5:132487061:T:G | N86T | 1.000 |
| 5:132487062:T:C | N86D | 1.000 |
| 5:132487064:A:C | M85R | 1.000 |
| 5:132487064:A:G | M85T | 1.000 |
| 5:132487064:A:T | M85K | 1.000 |
| 5:132487067:G:A | A84V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000551311 (5:132492305 A>C), RS1000601295 (5:132491419 A>G,T), RS1001813535 (5:132488401 G>A), RS1001985007 (5:132485292 T>C), RS1002634394 (5:132492630 A>G), RS10035166 (5:132488235 T>A,C,G), RS1003714259 (5:132489267 C>A), RS1004070391 (5:132492221 C>T), RS1005066452 (5:132490781 C>A,G,T), RS10051145 (5:132485132 A>G), RS1005119321 (5:132491546 G>A), RS1005302435 (5:132484241 A>C), RS10053046 (5:132485866 A>C,G), RS1005792949 (5:132487217 C>T), RS1006219416 (5:132486851 G>A,T)
Disease associations
OMIM: gene MIM:147575 | disease phenotypes: MIM:613659, MIM:620668
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| immunodeficiency 117 | Strong | Autosomal recessive |
Mondo (4): gastric cancer (MONDO:0001056), non-small cell lung carcinoma (MONDO:0005233), immunodeficiency 117 (MONDO:0958011), blepharophimosis (MONDO:0001008)
Orphanet (2): Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency (Orphanet:699615), NON RARE IN EUROPE: Non-small cell lung cancer (Orphanet:488201)
HPO phenotypes
41 total (30 of 41 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000246 | Sinusitis |
| HP:0000957 | Cafe-au-lait spot |
| HP:0001217 | Clubbing |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0001508 | Failure to thrive |
| HP:0001744 | Splenomegaly |
| HP:0001873 | Thrombocytopenia |
| HP:0001882 | Decreased total leukocyte count |
| HP:0001903 | Anemia |
| HP:0001945 | Fever |
| HP:0002014 | Diarrhea |
| HP:0002090 | Pneumonia |
| HP:0002240 | Hepatomegaly |
| HP:0002566 | Intestinal malrotation |
| HP:0002783 | Recurrent lower respiratory tract infections |
| HP:0002840 | Lymphadenitis |
| HP:0003261 | Increased circulating IgA concentration |
| HP:0003593 | Infantile onset |
| HP:0005403 | Decreased total T cell count |
| HP:0006519 | Alveolar cell carcinoma |
| HP:0011274 | Recurrent mycobacterial infections |
| HP:0012126 | Stomach cancer |
| HP:0020086 | BCGitis |
| HP:0020087 | BCGosis |
| HP:0030078 | Lung adenocarcinoma |
| HP:0030358 | Non-small cell lung carcinoma |
| HP:0030381 | Increased transitional B cell proportion |
| HP:0032256 | Histoplasmosis |
| HP:0032261 | Nontuberculous mycobacterial pulmonary infection |
GWAS associations
43 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000366_3 | Fibrinogen | 1.000000e-15 |
| GCST000368_1 | Fibrinogen | 1.000000e-06 |
| GCST000368_5 | Fibrinogen | 1.000000e-12 |
| GCST000879_15 | Crohn’s disease | 1.000000e-20 |
| GCST000965_15 | C-reactive protein levels | 1.000000e-08 |
| GCST001337_15 | Platelet count | 1.000000e-10 |
| GCST001725_83 | Inflammatory bowel disease | 1.000000e-52 |
| GCST002147_2 | Fibrinogen | 2.000000e-21 |
| GCST002147_23 | Fibrinogen | 2.000000e-48 |
| GCST002445_1 | Asthma (sex interaction) | 9.000000e-07 |
| GCST004131_32 | Inflammatory bowel disease | 4.000000e-27 |
| GCST004132_10 | Crohn’s disease | 6.000000e-36 |
| GCST004133_36 | Ulcerative colitis | 2.000000e-06 |
| GCST004607_238 | Plateletcrit | 2.000000e-12 |
| GCST004861_68 | Itch intensity from mosquito bite | 2.000000e-38 |
| GCST004865_94 | Itch intensity from mosquito bite adjusted by bite size | 5.000000e-22 |
| GCST005528_18 | Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular) | 1.000000e-09 |
| GCST006862_23 | Asthma | 2.000000e-11 |
| GCST007089_3 | Polycystic ovary syndrome | 1.000000e-10 |
| GCST007094_116 | Diastolic blood pressure | 9.000000e-10 |
| GCST007564_20 | Asthma or allergic disease (pleiotropy) | 5.000000e-10 |
| GCST007798_25 | Asthma | 4.000000e-25 |
| GCST007799_18 | Asthma (adult onset) | 4.000000e-23 |
| GCST007993_12 | Asthma (adult onset) | 3.000000e-13 |
| GCST007995_19 | Asthma (childhood onset) | 9.000000e-11 |
| GCST008916_106 | Asthma | 2.000000e-25 |
| GCST009798_69 | Asthma | 1.000000e-26 |
| GCST010124_2 | Crohn’s disease or systemic sclerosis | 2.000000e-11 |
| GCST010536_10 | Carotid plaque maximum area | 1.000000e-08 |
| GCST010536_12 | Carotid plaque maximum area | 2.000000e-07 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
| EFO:0004309 | platelet count |
| EFO:0008343 | sex interaction measurement |
| EFO:0007985 | platelet crit |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:1002011 | adult onset asthma |
| EFO:0006501 | carotid plaque build |
| EFO:0007986 | reticulocyte count |
| EFO:0004736 | aspartate aminotransferase measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D016569 | Blepharophimosis | C11.250.090; C11.338.190; C16.131.384.190 |
| D002289 | Carcinoma, Non-Small-Cell Lung | C04.588.894.797.520.109.220.249; C08.381.540.140.500; C08.785.520.100.220.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
118 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | increases localization, affects binding, increases expression, increases reaction, decreases reaction (+2 more) | 10 |
| Arsenic Trioxide | increases activity, increases expression, increases reaction, decreases expression | 5 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression, increases expression | 5 |
| Alitretinoin | increases expression | 3 |
| Air Pollutants | decreases expression, increases expression, decreases reaction, increases abundance | 3 |
| bisphenol A | increases methylation, decreases expression, decreases methylation, affects cotreatment | 2 |
| tamibarotene | increases expression | 2 |
| Am 580 | increases reaction, affects localization, increases expression, increases activity, decreases reaction | 2 |
| Ro 41-5253 | decreases reaction, increases expression | 2 |
| monomethylarsonous acid | affects expression, decreases expression | 2 |
| bisphenol AF | decreases reaction, increases reaction, affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 2 |
| Dactinomycin | decreases reaction, increases expression, increases reaction | 2 |
| Estradiol | increases expression, affects cotreatment, decreases expression | 2 |
| Lipopolysaccharides | decreases reaction, increases expression, affects response to substance | 2 |
| Silicon Dioxide | increases expression | 2 |
| Particulate Matter | increases expression, affects cotreatment, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| Glupearl 19S | increases expression | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| quinone | increases expression, increases reaction | 1 |
| triphenyl phosphate | affects expression | 1 |
| geraniol | increases expression | 1 |
| methylselenic acid | affects expression | 1 |
| titanium dioxide | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | increases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | increases reaction, increases expression | 1 |
Cellosaurus cell lines
11 cell lines: 7 cancer cell line, 3 embryonic stem cell, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A3E7 | SEES3-1V human IRF1, clone1 | Embryonic stem cell | Male |
| CVCL_A3E8 | SEES3-1V human IRF1, clone2 | Embryonic stem cell | Male |
| CVCL_A3E9 | SEES3-1V human IRF1, clone3 | Embryonic stem cell | Male |
| CVCL_AW28 | K562 eGFP-IRF1 | Cancer cell line | Female |
| CVCL_B1G0 | Abcam A-549 IRF1 KO | Cancer cell line | Male |
| CVCL_B1UN | Abcam HeLa IRF1 KO | Cancer cell line | Female |
| CVCL_C2UN | BEAS-2B IRF1 KO | Transformed cell line | Male |
| CVCL_E1MG | HyCyte Ramos KO-hIRF1 | Cancer cell line | Male |
| CVCL_E8F5 | THP1-Dual KO-IRF1 | Cancer cell line | Male |
| CVCL_SS88 | HAP1 IRF1 (-) 1 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00365508 | PHASE4 | COMPLETED | Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking |
| NCT00558155 | PHASE4 | COMPLETED | The Impact of Immunostimulating Nutrition on the Outcome of Surgery |
| NCT00576940 | PHASE4 | COMPLETED | Standard and Immunostimulating Enteral Nutrition in Surgical Patients |
| NCT00666978 | PHASE4 | COMPLETED | Health Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking |
| NCT01038154 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy of Pravastatin on Survival and Recurrence of Advanced Gastroesophageal Cancer |
| NCT01234272 | PHASE4 | COMPLETED | Comparison of the Analgesic Effect Between Intrathecal Morphine and IV-fentanyl Patient Controlled Analgesia (ITM-IVPCA) and Epidural PCA (PCEA) in Patients Undergoing Gastrectomy -Randomized Allocation Study- |
| NCT01260194 | PHASE4 | TERMINATED | A Study of Herceptin (Trastuzumab) in Combination With Standard Chemotherapy in Patients With HER Positive Metastatic Gastric Cancer |
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Related Atlas pages
- Associated diseases: immunodeficiency 117
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): blepharophimosis, gastric cancer, immunodeficiency 117, oligoarticular juvenile idiopathic arthritis, polycystic ovary syndrome, rheumatoid factor-negative juvenile idiopathic arthritis, systemic-onset juvenile idiopathic arthritis