Aliases for MALT1 Gene
External Ids for MALT1 Gene
Previous HGNC Symbols for MALT1 Gene
Previous GeneCards Identifiers for MALT1 Gene
This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018]
GeneCards Summary for MALT1 Gene
MALT1 (MALT1 Paracaspase) is a Protein Coding gene. Diseases associated with MALT1 include Immunodeficiency 12 and Lymphoma, Mucosa-Associated Lymphoid Type. Among its related pathways are B Cell Receptor Signaling Pathway (sino) and CLEC7A (Dectin-1) signaling. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and peptidase activity.
UniProtKB/Swiss-Prot Summary for MALT1 Gene
Protease that enhances BCL10-induced activation of NF-kappa-B by mediating its cleavage (PubMed:11262391, PubMed:18264101). MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion (PubMed:11262391, PubMed:18264101). Involved in the induction of T helper 17 cells (Th17) differentiation (PubMed:11262391, PubMed:18264101). Cleaves RC3H1 and ZC3H12A in response to T-cell receptor (TCR) stimulation which releases their cooperatively repressed targets to promote Th17 cell differentiation (By similarity). Also mediates cleavage of N4BP1 in T-cells following TCR-mediated activation, leading to N4BP1 inactivation (PubMed:31133753). Also has ubiquitin ligase activity: binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity (PubMed:14695475).
Aminopeptidases catalyze the removal of amino acids from the amino terminus of proteins and peptides. They express different substrate specificities - for example, leucyl aminopeptidase preferentially cleaves leucine residues.