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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]
IRF1 (Interferon Regulatory Factor 1) is a Protein Coding gene. Diseases associated with IRF1 include Gastric Cancer and Lung Cancer. Among its related pathways are Apoptosis Modulation and Signaling and Prolactin Signaling Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is IRF2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA,IMP | 15509808 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IMP | 15509808 |
GO:0003677 | DNA binding | TAS | 11846971 |
GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA,ISA | -- |
GO:0005634 | nucleus | IBA,TAS | 11846971 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | ISS | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Prolactin Signaling Pathway |
Development Prolactin receptor signaling
.38
|
|
2 | Innate Immune System |
.61
|
|
3 | Immune response IFN alpha/beta signaling pathway |
Immune response IFN alpha/beta signaling pathway
.74
|
|
4 | Interferon gamma signaling | ||
5 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IBA | 21873635 |
GO:0002819 | regulation of adaptive immune response | TAS | 11846971 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | TAS | 2475256 |
GO:0006915 | apoptotic process | IEA,IDA | 19851330 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IRF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IRF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IRF1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Irf1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Irf1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IRF1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IRF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IRF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IRF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | irf1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68691 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | irf1b 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
790794 | Benign: not provided | 132,486,973(-) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
rs121912469 | Pathogenic: Neoplasm of stomach. Gastric cancer (GASC) [MIM:613659] | 132,489,457(-) | T/Ap.Met8Leu | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs121912470 | Pathogenic: Non-small cell lung cancer. Gastric cancer (GASC) [MIM:613659] | 132,489,448(-) | A/Gp.Trp11Arg | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3416328 | CNV | duplication | 20981092 |
nsv1161299 | CNV | deletion | 26073780 |
Disorder | Aliases | PubMed IDs |
---|---|---|
gastric cancer |
|
|
lung cancer |
|
|
subacute sclerosing panencephalitis |
|
|
fanconi anemia, complementation group c |
|
|
mumps |
|