MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1)
2001-09-01 Mathijs Baens  , Peter Marynen   AffiliationCenter for Human Genetics, Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Catholic University of Leuven, Leuven, Belgium
Identity
HGNC
LOCATION
18q21.32
LOCUSID
ALIAS
IMD12,MLT,MLT1,PCASP1
FUSION GENES
DNA/RNA
Description
centromere to telomere orientation; 17 exons spread over 80 kb of genomic sequence, start codon in exon1, stop in exon 17
Transcription
2 alternative transcripts, probably due to alternative polyadenylation.
Proteins

MALT1 protein - Mathijs Baens , Peter Marynen
Description
92 kDa; 824 amino acids; The prodomain contains a Death Domain (homotypic interaction module), followed by two immunoglobulin-like domains, a predicted caspace-like proteolytic domain (p20) and a region with homology to the murine VDJ4 sequence
Localisation
cytoplasmic
Homology
with the predicted ORF from the C. elegans F22D3.6
Implicated in
Entity name
Disease
B-cell non Hodgkin lymphoma (NHL); marginal zone B-cell lymphoma (MZBCL) of mucosa-associated lymphoid tissue (MALT); found in extranodal MZBCL or MALT-type (50%), absent in splenic and nodal MZBCL
Prognosis
For gastric MALT-type lymphomas, t(11;18) is a clonal marker for resistance to Helicobacter pylori eradication therapy and antigen independent growth
Cytogenetics
t(11;18) is frequently associated with deletions affecting 3 API2 on chromosome 11 or 5 MALT1 on chromosome 18.
Hybrid gene
5 API2 on chromosome 11q21 translocated on chromosome 18 in frame with 3 MALT1. Deletions often exclude the expression of the reciprocal 5 MLT API2 3 transcript.

BIRC3/MALT1 fusion protein - Mathijs Baens, Peter Marynen
Fusion protein
All MALT-type lymphomas reported with a t(11;18) express an in frame API2-MLT fusion protein with consistently the three BIR domains of API2 fused to the caspace p20 domain and VDJ4-like domain of MLT.
Oncogenesis
Transient expression of the API2-MLT fusion protein acitvates an NF-KB luciferase reporter construct, suggesting the involvement of this signaling cascade in MALT lymphomagenesis
Breakpoints

Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10523859 | 1999 | A novel gene, MALT1 at 18q21, is involved in t(11;18) (q21;q21) found in low-grade B-cell lymphoma of mucosa-associated lymphoid tissue. | Akagi T et al |
| 10751367 | 2000 | The product of the t(11;18), an API2-MLT fusion, marks nearly half of gastric MALT type lymphomas without large cell proliferation. | Baens M et al |
| 11066071 | 2000 | Structure of the MLT gene and molecular characterization of the genomic breakpoint junctions in the t(11;18)(q21;q21) of marginal zone B-cell lymphomas of MALT type. | Baens M et al |
| 10979968 | 2000 | Detection of t(11;18)(q21;q21) by interphase fluorescence in situ hybridization using API2 and MLT specific probes. | Dierlamm J et al |
| 10907943 | 2000 | The product of the t(11;18), an API2-MLT fusion, is an almost exclusive finding in marginal zone cell lymphoma of extranodal MALT-type. | Maes B et al |
| 11090634 | 2000 | Identification of paracaspases and metacaspases: two ancient families of caspase-like proteins, one of which plays a key role in MALT lymphoma. | Uren AG et al |
Other Information
Locus ID:
NCBI: 10892
MIM: 604860
HGNC: 6819
Ensembl: ENSG00000172175
Variants:
dbSNP: 10892
ClinVar: 10892
TCGA: ENSG00000172175
COSMIC: MALT1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37767562 | 2024 | Profiling the activity of the para-caspase MALT1 in B-cell acute lymphoblastic leukemia for potential targeted therapeutic application. | 1 |
| 38183651 | 2024 | The paracaspase MALT1 controls cholesterol homeostasis in glioblastoma stem-like cells through lysosome proteome shaping. | 3 |
| 38418651 | 2024 | Long-term monitoring of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene. | 0 |
| 38519981 | 2024 | Inhibition of the MALT1-LPCAT3 axis protects cartilage degeneration and osteoarthritis. | 1 |
| 37767562 | 2024 | Profiling the activity of the para-caspase MALT1 in B-cell acute lymphoblastic leukemia for potential targeted therapeutic application. | 1 |
| 38183651 | 2024 | The paracaspase MALT1 controls cholesterol homeostasis in glioblastoma stem-like cells through lysosome proteome shaping. | 3 |
| 38418651 | 2024 | Long-term monitoring of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene. | 0 |
| 38519981 | 2024 | Inhibition of the MALT1-LPCAT3 axis protects cartilage degeneration and osteoarthritis. | 1 |
| 36708753 | 2023 | The paracaspase MALT1 is a downstream target of Smad3 and potentiates the crosstalk between TGF-β and NF-kB signaling pathways in cancer cells. | 3 |
| 36719376 | 2023 | Cotargeting of BTK and MALT1 overcomes resistance to BTK inhibitors in mantle cell lymphoma. | 3 |
| 36922488 | 2023 | MALT1-dependent cleavage of CYLD promotes NF-κB signaling and growth of aggressive B-cell receptor-dependent lymphomas. | 4 |
| 37010640 | 2023 | Localization and expression profiles of gingival monocyte chemoattractant protein-1-induced protein-1 (MCPIP-1) and mucosa-associated lymphoid tissue lymphoma translocation protein 1 (MALT-1). | 0 |
| 37059355 | 2023 | MALT1 paracaspase is overexpressed in hepatocellular carcinoma and promotes cancer cell survival and growth. | 4 |
| 37108564 | 2023 | Proteolytic Activity of the Paracaspase MALT1 Is Involved in Epithelial Restitution and Mucosal Healing. | 1 |
| 37126937 | 2023 | Function and targeting of MALT1 paracaspase in cancer. | 8 |
Citation
Mathijs Baens ; Peter Marynen
MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1)
Atlas Genet Cytogenet Oncol Haematol. 2001-09-01
Online version: http://atlasgeneticsoncology.org/gene/240
