MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1)

2001-09-01   Mathijs Baens  , Peter Marynen  

Center 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

Atlas Image
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

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.
Atlas Image
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

Atlas Image

Article Bibliography

Pubmed IDLast YearTitleAuthors
105238591999A 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
107513672000The 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
110660712000Structure 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
109799682000Detection of t(11;18)(q21;q21) by interphase fluorescence in situ hybridization using API2 and MLT specific probes.Dierlamm J et al
109079432000The 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
110906342000Identification 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

Gene IDTranscript IDUniprot
ENSG00000172175ENST00000345724Q9UDY8
ENSG00000172175ENST00000591792K7EP42
ENSG00000172175ENST00000648670A0A3B3IS82
ENSG00000172175ENST00000649217Q9UDY8
ENSG00000172175ENST00000650045A0A3B3IS32

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
T cell receptor signaling pathwayKEGGko04660
B cell receptor signaling pathwayKEGGko04662
T cell receptor signaling pathwayKEGGhsa04660
B cell receptor signaling pathwayKEGGhsa04662
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
NF-kappa B signaling pathwayKEGGhsa04064
NF-kappa B signaling pathwayKEGGko04064
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
TCR signalingREACTOMER-HSA-202403
Downstream TCR signalingREACTOMER-HSA-202424
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)REACTOMER-HSA-1168372
Activation of NF-kappaB in B cellsREACTOMER-HSA-1169091
Innate Immune SystemREACTOMER-HSA-168249
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated NF-kB activationREACTOMER-HSA-2871837
C-type lectin receptors (CLRs)REACTOMER-HSA-5621481
CLEC7A (Dectin-1) signalingREACTOMER-HSA-5607764
CLEC7A/inflammasome pathwayREACTOMER-HSA-5660668

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
377675622024Profiling the activity of the para-caspase MALT1 in B-cell acute lymphoblastic leukemia for potential targeted therapeutic application.1
381836512024The paracaspase MALT1 controls cholesterol homeostasis in glioblastoma stem-like cells through lysosome proteome shaping.3
384186512024Long-term monitoring of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene.0
385199812024Inhibition of the MALT1-LPCAT3 axis protects cartilage degeneration and osteoarthritis.1
377675622024Profiling the activity of the para-caspase MALT1 in B-cell acute lymphoblastic leukemia for potential targeted therapeutic application.1
381836512024The paracaspase MALT1 controls cholesterol homeostasis in glioblastoma stem-like cells through lysosome proteome shaping.3
384186512024Long-term monitoring of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene.0
385199812024Inhibition of the MALT1-LPCAT3 axis protects cartilage degeneration and osteoarthritis.1
367087532023The paracaspase MALT1 is a downstream target of Smad3 and potentiates the crosstalk between TGF-β and NF-kB signaling pathways in cancer cells.3
367193762023Cotargeting of BTK and MALT1 overcomes resistance to BTK inhibitors in mantle cell lymphoma.3
369224882023MALT1-dependent cleavage of CYLD promotes NF-κB signaling and growth of aggressive B-cell receptor-dependent lymphomas.4
370106402023Localization 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
370593552023MALT1 paracaspase is overexpressed in hepatocellular carcinoma and promotes cancer cell survival and growth.4
371085642023Proteolytic Activity of the Paracaspase MALT1 Is Involved in Epithelial Restitution and Mucosal Healing.1
371269372023Function 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/malt1-(mucosa-associated-lymphoid-tissue-lymphoma-translocation-gene-1)