{"entity":{"id":"malt1","kind":"target","name":"MALT1","aka":["MALT1 paracaspase","Mucosa-associated lymphoid tissue lymphoma translocation protein 1","PCASP1"],"tldr":"MALT1 (Mucosa-associated lymphoid tissue lymphoma translocation protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Skin cancer and Diffuse large B-cell lymphoma.","summary":"Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signalling downstream of CARD domain-containing proteins (CARD9, CARD11 and CARD14) to activate NF-kappa-B and MAP kinase p38 pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines. Mediates BCL10 cleavage: MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion. Involved in the induction of T helper 17 cells (Th17) differentiation.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.04, somatic mutation 0.97). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6819","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6819"},{"label":"UniProt Q9UDY8","url":"https://www.uniprot.org/uniprotkb/Q9UDY8/entry"},{"label":"NCBI Gene 10892","url":"https://www.ncbi.nlm.nih.gov/gene/10892"},{"label":"Ensembl ENSG00000172175","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172175"},{"label":"Liu et al., Gastroenterology 2002: t(11;18) marks gastric MALT lymphomas that will not respond to Helicobacter pylori eradication (111 patients)","url":"https://doi.org/10.1053/gast.2002.33047"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","dlbcl","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-signalling","inflammation-nfkb","microbiome-tumour"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, t(11;18) API2-MALT1 and the NF-kB lesions of marginal zone lymphoma: Gastric MALT lymphoma begins as a Helicobacter-driven proliferation that still needs the antigen; removing the bacterium removes the stimulus and the lymphoma regresses. The t(11;18) fuses API2 to MALT1 and produces a protein that activates NF-kB on its own, so the lymphoma no longer needs the antigen and no longer cares whether the bacterium is still there. The related translocations, t(1;14) involving BCL10 and t(14;18) involving MALT1, do the same job by a different route, and inactivation of TNFAIP3 removes the brake. Frequency: Among 111 patients with Helicobacter-positive gastric MALT lymphoma treated with antibiotics, the translocation separated the responders from the non-responders: 47 of the 48 patients who regressed completely were negative for the API2-MALT1 transcript (Liu 2002). What it changes about treatment: Yes, and this is one of the few places where a translocation result changes the first decision. A t(11;18)-positive gastric MALT lymphoma should not be treated with eradication alone, whatever the stage; a negative one usually can be."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MALT1","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6819","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6819","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UDY8","url":"https://www.uniprot.org/uniprotkb/Q9UDY8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000172175","url":"https://platform.opentargets.org/target/ENSG00000172175/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: skin cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen MALT1","url":"https://www.intogen.org/search?gene=MALT1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6819","ensembl":"ENSG00000172175","uniprot":"Q9UDY8","entrez":"10892","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dierlamm et al, Blood, 1999, \"The apoptosis inhibitor gene API2 and a novel 18q gene, MLT, are recurrently rearranged in the t(11;18)(q21;q21) associated with mucosa-associated lymphoid tissue lymphomas\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10339464/","biology":"Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signalling downstream of CARD domain-containing proteins (CARD9, CARD11 and CARD14) to activate NF-kappa-B and MAP kinase p38 pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines. Mediates BCL10 cleavage: MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion. Involved in the induction of T helper 17 cells (Th17) differentiation. Cleaves RC3H1 and ZC3H12A in response to T-cell receptor (TCR) stimulation which releases their cooperatively repressed targets to promote Th17 cell differentiation. Also mediates cleavage of N4BP1 in T-cells following TCR-mediated activation, leading to N4BP1 inactivation. May also have ubiquitin ligase activity: binds to TRAF6, inducing TRAF6 oligomerisation and activation of its ligase activity. Location: Cytoplasm, perinuclear region; Nucleus (UniProt). Locus 18q21.32 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/malt1/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"dlbcl","kind":"cancer","name":"Diffuse large B-cell lymphoma","route":"/cancers/dlbcl/"},{"id":"malt-lymphoma","kind":"cancer","name":"Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)","route":"/cancers/malt-lymphoma/"},{"id":"marginal-zone-lymphoma","kind":"cancer","name":"Marginal zone lymphoma","route":"/cancers/marginal-zone-lymphoma/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}],"pathway":[{"id":"bcr-signalling","kind":"pathway","name":"B-cell receptor / BTK signalling (to NF-κB)","route":"/pathways/bcr-signalling/"},{"id":"inflammation-nfkb","kind":"pathway","name":"Inflammation & NF-κB","route":"/pathways/inflammation-nfkb/"},{"id":"microbiome-tumour","kind":"pathway","name":"Microbiome-tumour interactions","route":"/pathways/microbiome-tumour/"}]}}