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MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1)

Written2001-09Mathijs Baens, Peter Marynen
Center for Human Genetics, Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Catholic University of Leuven, Leuven, Belgium

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)MLT
huParacaspase
HGNC (Hugo) MALT1
HGNC Alias symbPCASP1
HGNC Alias nameMALT1 protease
 paracaspase 1
HGNC Previous nameMLT
HGNC Previous namemucosa associated lymphoid tissue lymphoma translocation gene 1
LocusID (NCBI) 10892
Atlas_Id 240
Location 18q21.32  [Link to chromosome band 18q21]
Location_base_pair Starts at 58671465 and ends at 58754477 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping MALT1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BCL11A (2p16.1)::MALT1 (18q21.32)BIRC3 (11q22.2)::MALT1 (18q21.32)MALT1 (18q21.32)::BIRC3 (11q22.2)
MALT1 (18q21.32)::CYP19A1 (15q21.2)MALT1 (18q21.32)::MALT1 (18q21.32)MALT1 (18q21.32)::MAP4 (3p21.31)
MAP4 (3p21.31)::MALT1 (18q21.32)NEK7 (1q31.3)::MALT1 (18q21.32)NSD2 (4p16.3)::MALT1 (18q21.32)
SERPINF2 (17p13.3)::MALT1 (18q21.32)STPG1 (1p36.11)::MALT1 (18q21.32)

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.

Protein

 
  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

Note
  
Entity / marginal zone B-cell lymphoma ofMALT-type --> BIRC3 - MALT1
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/Mutated 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
Abnormal 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

 

Bibliography

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, Motegi M, Tamura A, Suzuki R, Hosokawa Y, Suzuki H, Ota H, Nakamura S, Morishima Y, Taniwaki M, Seto M
Oncogene. 1999 ; 18 (42) : 5785-5794.
PMID 10523859
 
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, Maes B, Steyls A, Geboes K, Marynen P, De Wolf-Peeters C
The American journal of pathology. 2000 ; 156 (4) : 1433-1439.
PMID 10751367
 
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, Steyls A, Dierlamm J, De Wolf-Peeters C, Marynen P
Genes, chromosomes & cancer. 2000 ; 29 (4) : 281-291.
PMID 11066071
 
Detection of t(11;18)(q21;q21) by interphase fluorescence in situ hybridization using API2 and MLT specific probes.
Dierlamm J, Baens M, Stefanova-Ouzounova M, Hinz K, Wlodarska I, Maes B, Steyls A, Driessen A, Verhoef G, Gaulard P, Hagemeijer A, Hossfeld DK, De Wolf-Peeters C, Marynen P
Blood. 2000 ; 96 (6) : 2215-2218.
PMID 10979968
 
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, Baens M, Marynen P, De Wolf-Peeters C
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO. 2000 ; 11 (5) : 521-526.
PMID 10907943
 
Identification of paracaspases and metacaspases: two ancient families of caspase-like proteins, one of which plays a key role in MALT lymphoma.
Uren AG, O'Rourke K, Aravind LA, Pisabarro MT, Seshagiri S, Koonin EV, Dixit VM
Molecular cell. 2000 ; 6 (4) : 961-967.
PMID 11090634
 

Citation

This paper should be referenced as such :
Baens,M ; Marynen, P
MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(1):10-12.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 11 ]
  Classification of B-cell non-Hodgkin lymphomas (NHL)
Heavy chain diseases
Marginal Zone B-cell lymphoma
Ocular adnexal marginal zone lymphoma (OAMZL)
Primary Cutaneous B-Cell Lymphomas
t(3;14)(p14;q32) IGH::FOXP1
t(11;18)(q21;q21) BIRC3::MALT1
t(14;18)(q32;q21) IGH::MALT1
t(3;18)(p21;q21) MAP4::MALT1
t(3;18)(p21;q21) MALT1::MAP4
Waldenstrom's macroglobulinemia (published in 2002)


External links

 

Nomenclature
HGNC (Hugo)MALT1   6819
Cards
AtlasMALT1ID240
Entrez_Gene (NCBI)MALT1    MALT1 paracaspase
AliasesIMD12; MLT; MLT1; PCASP1
GeneCards (Weizmann)MALT1
Ensembl hg19 (Hinxton)ENSG00000172175 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172175 [Gene_View]  ENSG00000172175 [Sequence]  chr18:58671465-58754477 [Contig_View]  MALT1 [Vega]
ICGC DataPortalENSG00000172175
TCGA cBioPortalMALT1
AceView (NCBI)MALT1
Genatlas (Paris)MALT1
SOURCE (Princeton)MALT1
Genetics Home Reference (NIH)MALT1
Genomic and cartography
GoldenPath hg38 (UCSC)MALT1  -     chr18:58671465-58754477 +  18q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MALT1  -     18q21.32   [Description]    (hg19-Feb_2009)
GoldenPathMALT1 - 18q21.32 [CytoView hg19]  MALT1 - 18q21.32 [CytoView hg38]
ImmunoBaseENSG00000172175
Genome Data Viewer NCBIMALT1 [Mapview hg19]  
OMIM604860   615468   
Gene and transcription
Genbank (Entrez)AB026118 AF070528 AF130356 AF316597 AK024859
RefSeq transcript (Entrez)NM_006785 NM_173844
Consensus coding sequences : CCDS (NCBI)MALT1
Gene ExpressionMALT1 [ NCBI-GEO ]   MALT1 [ EBI - ARRAY_EXPRESS ]   MALT1 [ SEEK ]   MALT1 [ MEM ]
Gene Expression Viewer (FireBrowse)MALT1 [ Firebrowse - Broad ]
GenevisibleExpression of MALT1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10892
GTEX Portal (Tissue expression)MALT1
Human Protein AtlasENSG00000172175-MALT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UDY8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UDY8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UDY8
PhosPhoSitePlusQ9UDY8
Domaine pattern : Prosite (Expaxy)CASPASE_P20 (PS50208)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)Caspase-like_dom_sf    DEATH-like_dom_sf    Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_sub    Ig_sub2    MALT1    MALT1_Death    MALT1_Ig    Pept_C14_p20   
Domain families : Pfam (Sanger)Ig_2 (PF13895)    MALT1_Ig (PF18703)   
Domain families : Pfam (NCBI)pfam13895    pfam18703   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)MALT1
PDB (RSDB)2G7R    3BFO    3K0W    3UO8    3UOA    3V4O    3V55    4I1P    4I1R    6F7I    6GK2    6H4A    6YN8    6YN9   
PDB Europe2G7R    3BFO    3K0W    3UO8    3UOA    3V4O    3V55    4I1P    4I1R    6F7I    6GK2    6H4A    6YN8    6YN9   
PDB (PDBSum)2G7R    3BFO    3K0W    3UO8    3UOA    3V4O    3V55    4I1P    4I1R    6F7I    6GK2    6H4A    6YN8    6YN9   
PDB (IMB)2G7R    3BFO    3K0W    3UO8    3UOA    3V4O    3V55    4I1P    4I1R    6F7I    6GK2    6H4A    6YN8    6YN9   
Structural Biology KnowledgeBase2G7R    3BFO    3K0W    3UO8    3UOA    3V4O    3V55    4I1P    4I1R    6F7I    6GK2    6H4A    6YN8    6YN9   
SCOP (Structural Classification of Proteins)2G7R    3BFO    3K0W    3UO8    3UOA    3V4O    3V55    4I1P    4I1R    6F7I    6GK2    6H4A    6YN8    6YN9   
CATH (Classification of proteins structures)2G7R    3BFO    3K0W    3UO8    3UOA    3V4O    3V55    4I1P    4I1R    6F7I    6GK2    6H4A    6YN8    6YN9   
SuperfamilyQ9UDY8
AlphaFold pdb e-kbQ9UDY8   
Human Protein Atlas [tissue]ENSG00000172175-MALT1 [tissue]
HPRD06892
Protein Interaction databases
DIP (DOE-UCLA)Q9UDY8
IntAct (EBI)Q9UDY8
BioGRIDMALT1
STRING (EMBL)MALT1
ZODIACMALT1
Ontologies - Pathways
QuickGOQ9UDY8
Ontology : AmiGOfibrillar center  B-1 B cell differentiation  protease binding  polkadots  stimulatory C-type lectin receptor signaling pathway  positive regulation of T cell cytokine production  endopeptidase activity  cysteine-type endopeptidase activity  ubiquitin-protein transferase activity  protein binding  nucleus  cytoplasm  cytosol  cytosol  proteolysis  defense response  activation of NF-kappaB-inducing kinase activity  peptidase activity  response to fungus  protein ubiquitination  kinase activator activity  positive regulation of protein ubiquitination  lipopolysaccharide-mediated signaling pathway  CBM complex  CBM complex  positive regulation of interleukin-1 beta production  positive regulation of interleukin-2 production  protein-containing complex  Fc-epsilon receptor signaling pathway  T cell proliferation  B cell activation  identical protein binding  regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  protein self-association  innate immune response  perinuclear region of cytoplasm  T cell receptor signaling pathway  T cell receptor signaling pathway  T cell receptor signaling pathway  regulation of T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  nuclear export  proteolysis involved in cellular protein catabolic process  positive regulation of T-helper 17 cell differentiation  
Ontology : EGO-EBIfibrillar center  B-1 B cell differentiation  protease binding  polkadots  stimulatory C-type lectin receptor signaling pathway  positive regulation of T cell cytokine production  endopeptidase activity  cysteine-type endopeptidase activity  ubiquitin-protein transferase activity  protein binding  nucleus  cytoplasm  cytosol  cytosol  proteolysis  defense response  activation of NF-kappaB-inducing kinase activity  peptidase activity  response to fungus  protein ubiquitination  kinase activator activity  positive regulation of protein ubiquitination  lipopolysaccharide-mediated signaling pathway  CBM complex  CBM complex  positive regulation of interleukin-1 beta production  positive regulation of interleukin-2 production  protein-containing complex  Fc-epsilon receptor signaling pathway  T cell proliferation  B cell activation  identical protein binding  regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  protein self-association  innate immune response  perinuclear region of cytoplasm  T cell receptor signaling pathway  T cell receptor signaling pathway  T cell receptor signaling pathway  regulation of T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  nuclear export  proteolysis involved in cellular protein catabolic process  positive regulation of T-helper 17 cell differentiation  
Pathways : KEGGNF-kappa B signaling pathway    T cell receptor signaling pathway    B cell receptor signaling pathway    Tuberculosis   
REACTOMEQ9UDY8 [protein]
REACTOME PathwaysR-HSA-5660668 [pathway]   
NDEx NetworkMALT1
Atlas of Cancer Signalling NetworkMALT1
Wikipedia pathwaysMALT1
Orthology - Evolution
OrthoDB10892
GeneTree (enSembl)ENSG00000172175
Phylogenetic Trees/Animal Genes : TreeFamMALT1
Homologs : HomoloGeneMALT1
Homology/Alignments : Family Browser (UCSC)MALT1
Gene fusions - Rearrangements
Fusion : MitelmanBIRC3::MALT1 [11q22.2/18q21.32]  
Fusion : MitelmanIGH::MALT1 [14q32.33/18q21.32]  
Fusion : MitelmanMALT1::MAP4 [18q21.32/3p21.31]  
Fusion : QuiverMALT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMALT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MALT1
dbVarMALT1
ClinVarMALT1
MonarchMALT1
1000_GenomesMALT1 
Exome Variant ServerMALT1
GNOMAD BrowserENSG00000172175
Varsome BrowserMALT1
ACMGMALT1 variants
VarityQ9UDY8
Genomic Variants (DGV)MALT1 [DGVbeta]
DECIPHERMALT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMALT1 
Mutations
ICGC Data PortalMALT1 
TCGA Data PortalMALT1 
Broad Tumor PortalMALT1
OASIS PortalMALT1 [ Somatic mutations - Copy number]
Cancer Gene: CensusMALT1 
Somatic Mutations in Cancer : COSMICMALT1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMALT1
Mutations and Diseases : HGMDMALT1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMALT1
DgiDB (Drug Gene Interaction Database)MALT1
DoCM (Curated mutations)MALT1
CIViC (Clinical Interpretations of Variants in Cancer)MALT1
OncoKBMALT1
NCG (London)MALT1
Cancer3DMALT1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604860    615468   
Orphanet22713    10694   
DisGeNETMALT1
MedgenMALT1
Genetic Testing Registry MALT1
NextProtQ9UDY8 [Medical]
GENETestsMALT1
Target ValidationMALT1
Huge Navigator MALT1 [HugePedia]
ClinGenMALT1
Clinical trials, drugs, therapy
MyCancerGenomeMALT1
Protein Interactions : CTDMALT1
Pharm GKB GenePA30568
PharosQ9UDY8
Clinical trialMALT1
Miscellaneous
canSAR (ICR)MALT1
HarmonizomeMALT1
DataMed IndexMALT1
Probes
Litterature
PubMed224 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMALT1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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