dimanche 11 septembre 2011

Mutated genes in cancer (15) – TNFAIP3


In databases:

● Entrez (http://www.ncbi.nlm.nih.gov/sites/gquery): 7128 or TNFAIP3
● Ensembl (http://www.ensembl.org/index.html): ENSG00000118503
● UniProt (http://www.uniprot.org/): P21580
● OMIM (http://www.ncbi.nlm.nih.gov/omim):  191163
● GeneCards (http://www.genecards.org/): TNFAIP3
● HGNC (http://www.genenames.org/): 11896 or TNFAIP3
● Enzyme Number (IUBMB): EC, EC 6.3.2

Gene locus:


Protein name:

Tumor necrosis factor, alpha-induced protein 3 (also known as “NF-kappaB inhibitor A20”)

Protein Size:

790 amino acids; about 90 kDa


TNFAIP3 is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. It is critical for limiting inflammatory processes.

Cancer-related alterations

Somatic TNFAIP3 mutations have been identified almost exclusively in haematopoietic and lymphoid tissue tumors (10%-20% of cases). TNFAIP3 is mutated mainly in different subtypes of B-cell lymphomas. It has been identified as tumor suppressor in marginal zone B-cell lymphoma (MZBCL), classical Hodgkin's lymphoma (cHL), diffuse large B-cell lymphoma (DLBCL), primary mediastinal B-cell Lymphoma (PMBL)…
Most TNFAIP3 mutations are nonsense or frameshift that prevent production of full-length TNFAIP3 protein. Deletions are also observed. There are no mutational hot spots.

References (open access):

A20 takes on tumors: tumor suppression by an ubiquitin-editing enzyme. Malynn BA, Ma A. J Exp Med. 2009 May 11;206(5):977-80.

TNFAIP3/A20 functions as a novel tumor suppressor gene in several subtypes of non-Hodgkin lymphomas. Honma K, Tsuzuki S, Nakagawa M, Tagawa H, Nakamura S, Morishima Y, Seto M. Blood. 2009 Sep 17;114(12):2467-75.

Molecular basis for the unique deubiquitinating activity of the NF-kappaB inhibitor A20. Lin SC, Chung JY, Lamothe B, Rajashankar K, Lu M, Lo YC, Lam AY, Darnay BG, Wu H. J Mol Biol. 2008 Feb 15;376(2):526-40.

Aucun commentaire:

Enregistrer un commentaire