Alt. symbols: CAP-1 | CD40bp | CRAF1 | LAP1 | RNF118

Approved name: TNF receptor associated factor 3
Alt. names: TNF receptorassociated factor 3 | CD40 associated protein 1 | CD40 binding protein | CD40 receptor associated factor 1 | LMP1associated protein 1 | RINGtype E3 ubiquitin transferase TRAF3

Location: 14q32.32: 102777449 - 102911500 (+)
Gene type: protein_coding, 13 transcripts.

Scores: LoFtool: | pLI: 0.99840567 | LOEUF: 0.224

HGNC: 12033

NCBI: 7187, RefSeq: NG_027973.1

Ensembl: ENSG00000131323.17

LRG_229 | Status: public

OMIM: 601896

Expression | ProteinAtlas

TRAF3 is a member of the Tumor necrosis factor (TNF) receptor-associated factor (TRAF) protein family. TRAF3 participates in the signal transduction of CD40 and it is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. TRAF3 plays a role in the regulation of antiviral responses and functions downstream of multiple TNF receptors and receptors that induce interferon-? (IFN-?), IFN-?, and IFN-? production, including Toll-like receptor 3 (TLR3), which is deficient in some patients with herpes simplex virus-1 encephalitis (HSE).

Only one mutation (p.Arg118Trp) has been associated with disease to date. Pérez de Diego et al. reported in 2010 a young French female with history of Herpes simplex encephalitis (HSE) in childhood. They showed that the mutation causes a dominant-negative loss of function in TRAF3. They concluded that TRAF3 deficiency confers susceptibility to HSE. This novel phenotype is also known as Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 in OMIM [MIM:614849]. [Load More]