Toll-Like Receptor 1

Alternative Names

  • TLR1
  • Toll/Interleukin 1 Receptor-Like
  • TIL
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OMIM Number

601194

NCBI Gene ID

7096

Uniprot ID

Q15399

Length

15,208 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Toll-like receptor 1

Molecular Mass

90291 Da

Amino Acid Count

786

Genomic Location

chr4:38,791,054-38,806,261

Gene Map Locus
4p14

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003263.4:c.1013T>CLebanonNC_000004.12:g.38797819A>GUncertain SignificanceFamilial Mediterranean FeverNG_016228.1:g.11973T>C; NM_003263.4:c.1013T>C; NP_003254.2:p.Met338Thr990267834
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