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This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
IRF3 (Interferon Regulatory Factor 3) is a Protein Coding gene. Diseases associated with IRF3 include Encephalopathy, Acute, Infection-Induced 7 and Viral Infectious Disease. Among its related pathways are Apoptosis Modulation and Signaling and Activated TLR4 signalling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and identical protein binding. An important paralog of this gene is IRF6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IMP | 17560375 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IMP | 17560375 |
GO:0003677 | DNA binding | NAS | 12062447 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 17079289 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,IGI | 23729669 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytosolic sensors of pathogen-associated DNA | ||
2 | Activated TLR4 signalling | ||
3 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | ||
4 | Toll-like Receptor Signaling Pathway |
.37
.34
|
|
5 | Measles |
.35
|
.33
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0002376 | immune system process | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | TAS | 8524823 |
GO:0006915 | apoptotic process | TAS | 20049431 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | IRF3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Irf3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Irf3 30 17 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | IRF3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IRF3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | mdo-mir-7306 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100493780 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | irf3 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
778853 | Benign: not provided | 49,663,393(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
781472 | Benign: not provided | 49,662,594(-) | C/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs1057519880 | Likely Pathogenic: Squamous cell carcinoma of the skin; Malignant melanoma of skin | 49,665,875(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs143769046 | Likely Benign: Herpes simplex encephalitis, susceptibility to, 7; not provided | 49,662,101(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
rs750526659 | Risk Factor: Herpes simplex encephalitis, susceptibility to, 7. Encephalopathy, acute, infection-induced, Herpes-specific, 7 (IIAE7) [MIM:616532] | 49,662,076(-) | C/Tp.Arg285Gln | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1160655 | CNV | deletion | 26073780 |
nsv469715 | CNV | gain+loss | 16826518 |
nsv470150 | CNV | gain | 18288195 |
nsv475216 | CNV | novel sequence insertion | 20440878 |
nsv579908 | CNV | loss | 21841781 |
nsv579909 | CNV | loss | 21841781 |
nsv817854 | CNV | gain | 17921354 |
nsv828578 | CNV | loss | 20364138 |
nsv833864 | CNV | gain | 17160897 |
nsv833865 | CNV | gain+loss | 17160897 |
nsv953600 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |