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MALT1

Identity

Other namesMLT
huParacaspase
HGNC MALT1
Location 18q21

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 - Baens Mathijs, 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 t(11;18)(q21;q21) / 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.
 
BIRC3/MALT1 fusion protein - Baens Mathijs, Peter Marynen
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.
Abnormal Protein All MALT-type lymphomas reported with a t(11;18) express an Œin 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

 

External links

Nomenclature
HGNCMALT1   6819
Entrez_GeneMALT1  10892  mucosa associated lymphoid tissue lymphoma translocation gene 1
Cards
AtlasMALT1ID240
GeneCardsMALT1
EnsemblMALT1 [Search_View]   ENSG00000172175 [Gene_View]
GenatlasMALT1
GeneLynxMALT1
eGenomeMALT1
euGene10892
Genomic and cartography
GoldenPathMALT1  -  18q21   chr18:54489598-54568350 +  18q21   [Description]    (hg18-Mar_2006)
EnsemblMALT1 - 18q21 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneMALT1
Gene and transcription
GenbankAB026118 [ ENTREZ ]
GenbankAF070528 [ ENTREZ ]
GenbankAF130356 [ ENTREZ ]
GenbankAF316597 [ ENTREZ ]
GenbankAK024859 [ ENTREZ ]
RefSeqNM_006785 [ SRS ]    NM_006785 [ ENTREZ ]
RefSeqNM_173844 [ SRS ]    NM_173844 [ ENTREZ ]
RefSeqAC_000061 [ SRS ]    AC_000061 [ ENTREZ ]
RefSeqAC_000150 [ SRS ]    AC_000150 [ ENTREZ ]
RefSeqNC_000018 [ SRS ]    NC_000018 [ ENTREZ ]
RefSeqNT_025028 [ SRS ]    NT_025028 [ ENTREZ ]
RefSeqNW_001838469 [ SRS ]    NW_001838469 [ ENTREZ ]
RefSeqNW_927106 [ SRS ]    NW_927106 [ ENTREZ ]
AceViewMALT1 AceView - NCBI
UnigeneHs.601217 [ SRS ]    Hs.601217 [ NCBI ]     HS601217 [ spliceNest ]
Fast-db5037 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ9UDY8 [ SRS]    Q9UDY8 [ EXPASY ]     Q9UDY8 [ INTERPRO ]     Q9UDY8 [ UNIPROT ]
PrositePS50208 CASPASE_P20 [ SRS ]    PS50208 CASPASE_P20 [ Expasy ]
PrositePS50017 DEATH_DOMAIN [ SRS ]    PS50017 DEATH_DOMAIN [ Expasy ]
PrositePS50835 IG_LIKE [ SRS ]    PS50835 IG_LIKE [ Expasy ]
InterproIPR000488 Death [ SRS ]    IPR000488 Death [ EBI ]
InterproIPR013151 Ig [ SRS ]    IPR013151 Ig [ EBI ]
InterproIPR007110 Ig-like [ SRS ]    IPR007110 Ig-like [ EBI ]
InterproIPR013783 Ig-like_fold [ SRS ]    IPR013783 Ig-like_fold [ EBI ]
InterproIPR003599 Ig_sub [ SRS ]    IPR003599 Ig_sub [ EBI ]
InterproIPR003598 Ig_sub2 [ SRS ]    IPR003598 Ig_sub2 [ EBI ]
InterproIPR011600 Pept_C14_cat [ SRS ]    IPR011600 Pept_C14_cat [ EBI ]
InterproIPR001309 Pept_C14_ICE_p20 [ SRS ]    IPR001309 Pept_C14_ICE_p20 [ EBI ]
CluSTrQ9UDY8
PfamPF00047 ig [ SRS ]    PF00047 ig [ Sanger ]    pfam00047 [ NCBI-CDD ]
PfamPF00656 Peptidase_C14 [ SRS ]    PF00656 Peptidase_C14 [ Sanger ]    pfam00656 [ NCBI-CDD ]
SmartSM00409 IG [EMBL]
SmartSM00408 IGc2 [EMBL]
BlocksQ9UDY8
PDB2G7R [ SRS ]    2G7R [ PdbSum ],   2G7R [ IMB ]   2G7R [ RSDB ]
HPRD06892
Protein Interaction databases
DIPQ9UDY8
IntActQ9UDY8
Polymorphism : SNP, mutations, diseases
OMIM604860    [ map ]   
GENECLINICS604860
SNPMALT1 [dbSNP-NCBI]  
SNPNM_006785 [SNP-NCI]  
SNPNM_173844 [SNP-NCI]  
SNPMALT1 [GeneSNPs - Utah]  MALT1] [HGBASE - SRS]
HAPMAPMALT1 [HAPMAP]  
COSMICMALT1 [Somatic mutation (COSMIC-CGP-Sanger)]  
TICdbMALT1 [Translocation breakpoints In Cancer]  
HGMDMALT1
General knowledge
Family BrowserMALT1 [UCSC Family Browser]
SOURCENM_006785
SOURCENM_173844
SMDHs.601217
SAGEHs.601217
Enzyme3.4.22.- [ Enzyme-Expasy ]   3.4.22.- [ Enzyme-SRS ]   3.4.22.- [ IntEnz-EBI ]   3.4.22.- [ BRENDA ]   3.4.22.- [ KEGG ]   3.4.22.- [ WIT ]
GOpositive regulation of T cell cytokine production [Amigo]  positive regulation of T cell cytokine production
GOubiquitin-protein ligase activity [Amigo]  ubiquitin-protein ligase activity
GOsignal transducer activity [Amigo]  signal transducer activity
GOnucleus [Amigo]  nucleus
GOcytoplasm [Amigo]  cytoplasm
GOcytosol [Amigo]  cytosol
GOproteolysis [Amigo]  proteolysis
GOanti-apoptosis [Amigo]  anti-apoptosis
GOdefense response [Amigo]  defense response
GOactivation of NF-kappaB-inducing kinase activity [Amigo]  activation of NF-kappaB-inducing kinase activity
GOpeptidase activity [Amigo]  peptidase activity
GOkinase activator activity [Amigo]  kinase activator activity
GOcaspase activity [Amigo]  caspase activity
GOCBM complex [Amigo]  CBM complex
GOpositive regulation of interleukin-2 production [Amigo]  positive regulation of interleukin-2 production
GOregulation of apoptosis [Amigo]  regulation of apoptosis
GOpositive regulation of I-kappaB kinase/NF-kappaB cascade [Amigo]  positive regulation of I-kappaB kinase/NF-kappaB cascade
GOprotein self-association [Amigo]  protein self-association
GOT cell receptor signaling pathway [Amigo]  T cell receptor signaling pathway
GOpositive regulation of T cell activation [Amigo]  positive regulation of T cell activation
GOnuclear export [Amigo]  nuclear export
GOprotein oligomerization [Amigo]  protein oligomerization
KEGGT cell receptor signaling pathway
KEGGB cell receptor signaling pathway
PubGeneMALT1
TreeFamMALT1
CTD10892 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeMALT1 Related clones (RZPD - Berlin)
PubMed
PubMed44 Pubmed reference(s) in LocusLink

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 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.
Dierlamm J, Baens M, Wlodarska I, Stefanova-Ouzounova M, Hernandez JM, Hossfeld DK, De Wolf-Peeters C, Hagemeijer A, Van den Berghe H, Marynen P
Blood. 1999 ; 93 (11) : 3601-3609.
PMID 10339464
 
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
 
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
 
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
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2001Baens Mathijs, Peter Marynen

Citation

This paper should be referenced as such :
Mathijs B, Marynen P . MALT1. Atlas Genet Cytogenet Oncol Haematol. September 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/MALT1ID240.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:15:11 2008


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