Free for academic non-profit institutions. Other users need a Commercial license
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 Malaria. Among its related pathways are Bacterial infections in CF airways and Diseases associated with the TLR signaling cascade. 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
|
|
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
|
|
5 | Bacterial infections in CF airways |
Bacterial infections in CF airways
.78
Immune response Bacterial infections in normal airways
.78
|
Immune response TLR signaling pathways
.46
|
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 | 151 |
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 NM_148910.2(TIRAP):c.539C>T (p.Ser180Leu) |
MISSENSE | |
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 |
|
|
malaria |
|
|
pertussis |
|
|
bacteriuria |
|
|
pelvic inflammatory disease |
|
|