TIR Domain-Containing Adaptor Molecule 1

Alternative Names

  • TICAM1
  • TIR Domain-Containing Adaptor Inducing Interferon-Beta
  • TRIF
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OMIM Number

607601

NCBI Gene ID

148022

Uniprot ID

Q8IUC6

Length

15,781 bases

No. of Exons

3

No. of isoforms

1

Protein Name

TIR domain-containing adapter molecule 1

Molecular Mass

76422 Da

Amino Acid Count

712

Genomic Location

chr19:4,815,932-4,831,712

Gene Map Locus
19p13.3

Description

The TICAM1 gene encodes an important adaptor protein called Toll–IL-1 receptor (TIR) domain-containing adaptor molecule-1 (TICAM1).  TICAM1s are comprised of two domains proline-rich N- and C-terminal domains and a central TIR domain; each one plays an important role in signaling and is essential for interactions with other TIR domains.  This protein is involved in native immunity against invading pathogens, it mediates NF-kappa-B and interferon-regulatory factor (IRF) activation, and induces apoptosis by interacting with TLR3 and TLR4 through TICAM2.  Defects in this protein are the cause of Herpes simplex encephalitis 4 (HSE4), a rare complication of human herpesvirus 1 (HHV-1) infection, characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes.

Molecular Genetics

The TICAM1 gene was mapped to 19p13.3 chromosome.  It encodes a protein of 712 amino acids and the gene consists of one coding exon spanning 15.8 kb within the genomic DNA.  Mutations in this gene have been associated with Herpes simplex encephalitis 4 (HSE4) in response to HSV-1 infection.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_182919.4:c.421C>TSaudi ArabiaNC_000019.10:g.4817957G>ARisk factorPathogenicHerpes Simplex Encephalitis, Susceptibility to, 4NG_031998.1:g.18786C>T; NM_182919.4:c.421C>T; NP_891549.1:p.Arg141Ter38790730737265
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