MALT1

Chr 18q21.32

MALT1 paracaspase

Aliases:: PCASP1
MANE:: ENST00000649217.2

OMIM: 604860 ↗NCBI: 10892 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

MALT1 · Q9UDY8

v62025-08-01

Predicted Aligned Error matrix for MALT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.4/ 100

Confident

824 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)21%
Low(50–70)6%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

combined immunodeficiency due to MALT1 deficiency
0.77
severe combined immunodeficiency
0.53
combined immunodeficiency
0.47
lymphoid neoplasm
0.37
skin carcinoma
0.37
hemangioblastoma
0.37
carcinoma of liver and intrahepatic biliary tract
0.37
bile duct carcinoma
0.37
gastric intestinal type adenocarcinoma
0.37
ovarian endometrioid adenocarcinoma with squamous differentiation
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mucosa-associated lymphoid tissue lymphoma translocation protein 1

Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signaling 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 (PubMed:11262391, PubMed:18264101, PubMed:24074955). Mediates BCL10 cleavage: 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). May also have ubiquitin ligase activity: binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity (PubMed:14695475)