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This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009]
TLR5 (Toll Like Receptor 5) is a Protein Coding gene. Diseases associated with TLR5 include Systemic Lupus Erythematosus 1 and Melioidosis. Among its related pathways are Phagocytosis of Microbes and Bacterial infections in CF airways. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and interleukin-1 receptor binding. An important paralog of this gene is TLR8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0005149 | interleukin-1 receptor binding | IPI | 12925853 |
GO:0005515 | protein binding | IEA,IPI | 30158114 |
GO:0038023 | signaling receptor activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Diseases associated with the TLR signaling cascade | ||
2 | Toll-Like receptor Signaling Pathways |
Mucin expression in CF via TLRs, EGFR signaling pathways
.42
|
|
3 | Activated TLR4 signalling | ||
4 | Toll-like Receptor Signaling Pathway | ||
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:0001819 | positive regulation of cytokine production | IEA | -- |
GO:0002224 | toll-like receptor signaling pathway | IEA,IBA | 21873635 |
GO:0002376 | immune system process | IEA | -- |
GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | IEA,TAS | -- |
GO:0006954 | inflammatory response | IEA,IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TLR5 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TLR5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tlr5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tlr5 30 |
|
||
Dog (Canis familiaris) |
Mammalia | TLR5 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TLR5 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TLR5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TLR5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TLR5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100496647 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tlr5b 30 31 |
|
OneToMany | |
tlr5a 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs138917078 | Likely Benign: not provided | 223,111,371(-) |
T/C NM_003268.6(TLR5):c.1661A>G (p.Asp554Gly) |
MISSENSE | |
rs140469324 | Likely Benign: not provided | 223,111,389(-) |
G/A NM_003268.6(TLR5):c.1643C>T (p.Ala548Val) |
MISSENSE | |
rs2072493 | Risk Factor: Legionellosis. - | 223,111,257(-) |
T/Cp.Asn592Ser NM_003268.6(TLR5):c.1775A>G (p.Asn592Ser) |
MISSENSE | |
rs5744166 | Benign: not provided. - | 223,112,698(-) |
G/Cp.Pro112Ala NM_003268.6(TLR5):c.334C>G (p.Pro112Ala) |
MISSENSE | |
rs5744167 | Benign: not provided. - | 223,112,604(-) |
T/Gp.Asn143Thr NM_003268.6(TLR5):c.428A>C (p.Asn143Thr) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1122523 | CNV | insertion | 17803354 |
esv3578454 | CNV | loss | 25503493 |
nsv832659 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
systemic lupus erythematosus 1 |
|
|
melioidosis |
|
|
legionnaire disease |
|
|
legionellosis |
|
|
lupus erythematosus |
|
|