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The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
TLR1 (Toll Like Receptor 1) is a Protein Coding gene. Diseases associated with TLR1 include Leprosy 5 and Lyme Disease. Among its related pathways are Antigen processing-Cross presentation and Activated TLR4 signalling. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and transmembrane signaling receptor activity. An important paralog of this gene is TLR6.
Toll-like receptors (TLRs) are single transmembrane cell-surface receptors, which have a key role in the innate immune system. TLRs generally exist as homodimers (heterodimers have been reported) and are found on immune cells; macrophages, B lymphocytes and mast cells.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | NAS | 11081518 |
GO:0005515 | protein binding | IPI | 15728506 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0035663 | Toll-like receptor 2 binding | IBA,IPI | 16880211 |
GO:0038023 | signaling receptor activity | TAS,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005794 | Golgi apparatus | IEA,IDA | 16880211 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS,IBA | 21873635 |
GO:0016020 | membrane | NAS | 11081518 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated TLR4 signalling | ||
2 | Diseases associated with the TLR signaling cascade | ||
3 | Toll-like Receptor Signaling Pathway | ||
4 | Toll-Like receptor Signaling Pathways | ||
5 | Defensins |
.81
.81
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001775 | cell activation | IDA | 15294986 |
GO:0002224 | toll-like receptor signaling pathway | TAS | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | TAS | -- |
GO:0006952 | defense response | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Imiquimod | Approved, Investigational | Pharma | Agonist | TLR-7 agonist,immunomodulator with antiviral and antitumor activity, Toll-like receptor 7 (TLR7) agonist | 163 | |
Resiquimod | Investigational | Pharma | Toll-like receptor 7 (TLR7) agonist | 0 | ||
Pam3CSK4 | Pharma | TLR1/2 agonist; induces cytokine production | 0 | |||
Poly(I:C) | Pharma | TLR3 agonist | 0 | |||
RWJ 21757 | Pharma | Toll-like receptor 7 (TLR7) agonist | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Imiquimod | Toll-like receptor 7 (TLR7) agonist | 99011-02-6 |
Pam3CSK4 | TLR1/2 agonist; induces cytokine production | 112208-00-1 |
Poly(I:C) | TLR3 agonist | 24939-03-5 |
Resiquimod | Toll-like receptor 7 (TLR7) agonist | 144875-48-9 |
RWJ 21757 | Toll-like receptor 7 (TLR7) agonist | 121288-39-9 |
Compound | Action | Cas Number |
---|---|---|
CU CPT 22 | 1416324-85-0 | |
CU CPT 4a | 1279713-77-7 | |
Pam2CSK4 | 868247-72-7 | |
Pam2CSK4 Biotin | ||
Pam3CSK4 | 112208-00-1 | |
Poly(I:C) | 24939-03-5 | |
RWJ 21757 | 121288-39-9 | |
Toll-like receptor modulator | TLR antagonist | 926927-42-6 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | · | 6f |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TLR1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TLR1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tlr1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tlr1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | TLR1LA 31 |
|
ManyToMany | |
TLR1LB 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tlr1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tlr1 30 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Toll-9 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711908 | Benign: not provided | 38,797,072(-) | A/C | MISSENSE_VARIANT | |
747589 | Likely Benign: not provided | 38,796,930(-) | A/G | SYNONYMOUS_VARIANT | |
767951 | Benign: not provided | 38,797,778(-) | G/T | MISSENSE_VARIANT | |
775216 | Benign: not provided | 38,798,661(-) | T/C | MISSENSE_VARIANT | |
779876 | Benign: not provided | 38,796,894(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3600264 | CNV | loss | 21293372 |
esv3600265 | CNV | loss | 21293372 |
esv3893918 | CNV | loss | 25118596 |
nsv594010 | CNV | loss | 21841781 |
nsv966262 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leprosy 5 |
|
|
lyme disease |
|
|
invasive aspergillosis |
|
|
pelvic inflammatory disease |
|
|
melioidosis |
|
|