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The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
TIRAP (TIR Domain Containing Adaptor Protein) is a Protein Coding gene. Diseases associated with TIRAP include Bacteremia 1 and Invasive Pneumococcal Disease, Recurrent Isolated. Among its related pathways are Antigen processing-Cross presentation and Tuberculosis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein binding, bridging.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005080 | protein kinase C binding | IPI | 17161867 |
GO:0005515 | protein binding | IPI | 11544529 |
GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding | ISS | -- |
GO:0030674 | protein binding, bridging | NAS | 19509286 |
GO:0035662 | Toll-like receptor 4 binding | IPI | 19509286 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 19948740 |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030139 | endocytic vesicle | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated TLR4 signalling | ||
2 | Diseases associated with the TLR signaling cascade | ||
3 | Toll-like Receptor Signaling Pathway |
.37
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4 | Toll-Like receptor Signaling Pathways |
Mucin expression in CF via TLRs, EGFR signaling pathways
.42
Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway
.33
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5 | Bacterial infections in CF airways |
Bacterial infections in CF airways
.78
Immune response Bacterial infections in normal airways
.78
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Immune response TLR signaling pathways
.46
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | TAS | 19509286 |
GO:0006954 | inflammatory response | IEA | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0007166 | cell surface receptor signaling pathway | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ustekinumab | Approved, Investigational | Pharma | 134 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9a | · | 9b | · | 9c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP10: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TIRAP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TIRAP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TIRAP 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tirap 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tirap 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TIRAP 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TIRAP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TIRAP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TIRAP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100491693 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tirap 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs8177374 | Protective: Bacteremia, resistance to; Mycobacterium tuberculosis, protection against; Invasive pneumococcal disease, protection against; Malaria, resistance to. - | 126,292,948(+) | C/Tp.Ser180Leu | MISSENSE_VARIANT | |
rs3802813 | - | p.Ser55Asn | |||
rs7932976 | - | p.Val197Ile | |||
rs8177369 | - | p.Ala9Pro | |||
rs8177399 | - | p.Arg13Trp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2660319 | CNV | deletion | 23128226 |
esv2664251 | CNV | deletion | 23128226 |
esv2762950 | CNV | loss | 21179565 |
esv3628001 | CNV | loss | 21293372 |
esv3628002 | CNV | loss | 21293372 |
nsv556530 | CNV | loss | 21841781 |
nsv826122 | CNV | loss | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bacteremia 1 |
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invasive pneumococcal disease, recurrent isolated |
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malaria |
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pertussis |
|
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bacteriuria |
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