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MALT1

Identity

Other namesMLT
huParacaspase
HGNC (Hugo) MALT1
Location 18q21
Location_base_pair Starts at 54489598 and ends at 54568350 bp from pter ( according to hg18-Mar_2006)  [Mapping]

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
HGNC (Hugo)MALT1   6819
Entrez_Gene (NCBI)MALT1  10892  mucosa associated lymphoid tissue lymphoma translocation gene 1
Cards
AtlasMALT1ID240
GeneCards (Weizmann)MALT1
Ensembl (Hinxton)ENSG00000172175 [Gene_View]  MALT1 [Vega]
AceView (NCBI)MALT1
Genatlas (Paris)MALT1
euGene (Indiana)10892
SOURCE (Stanford)NM_006785 NM_173844
Genomic and cartography
GoldenPath (UCSC)MALT1  -  18q21   chr18:54489598-54568350 +  18q21   [Description]    (hg18-Mar_2006)
EnsemblMALT1 - 18q21 [CytoView]
Mapping of homologs : NCBIMALT1 [Mapview]
OMIM604860   
Gene and transcription
Gene : Genbank (Entrez)AB026118 AF070528 AF130356 AF316597 AK024859
Reference sequence (RefSeq transcript) :SRSNM_006785 NM_173844
Reference transcript : EntrezNM_006785 NM_173844
RefSeq genomic : SRSAC_000061 AC_000150 NC_000018 NT_025028 NW_001838469 NW_927106
RefSeq genomic : EntrezAC_000061 AC_000150 NC_000018 NT_025028 NW_001838469 NW_927106
Consensus coding sequences : CCDS NCBIMALT1
Cluster EST : UnigeneHs.601217 [ SRS ] Hs.601217 [ NCBI ]
Alternative Splicing : Fast-db (Paris)5037
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ9UDY8 (SRS) Q9UDY8 (Expasy) Q9UDY8 (Uniprot)
With graphics : InterProQ9UDY8
Splice isoforms : VarSplice FASTAQ9UDY8(VarSplice FASTA)
Domaine pattern : Prosite (SRS)CASPASE_P20 (PS50208)    DEATH_DOMAIN (PS50017)    IG_LIKE (PS50835)   
Domain pattern : Prosite (Expaxy)CASPASE_P20 (PS50208)    DEATH_DOMAIN (PS50017)    IG_LIKE (PS50835)   
Domains : Interpro (SRS)Death    Ig    Ig-like    Ig-like_fold    Ig_sub    Ig_sub2    Pept_C14_cat    Pept_C14_ICE_p20   
Domains : Interpro (EBI)Death    Ig    Ig-like    Ig-like_fold    Ig_sub    Ig_sub2    Pept_C14_cat    Pept_C14_ICE_p20   
Related proteins : CluSTrQ9UDY8
Domain families : Pfam SRSig (PF00047)    Peptidase_C14 (PF00656)   
Domain families : Pfam Sangerig (PF00047)    Peptidase_C14 (PF00656)   
Domain families : Pfam NCBIpfam00047    pfam00656   
Domain families : Smart EMBLIG (SM00409)IGc2 (SM00408)
Blocks (Seattle)Q9UDY8
Crystal structure of protein : PDB SRS2G7R   
Crystal structure of protein : PDBSum2G7R   
Crystal structure of protein : IMB2G7R   
Crystal structure of protein : PDB RSDB2G7R   
HPRD06892
Protein Interaction databases
DIP (DOE-UCLA)Q9UDY8
IntAct (EBI)Q9UDY8
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIMALT1
SNP : GeneSNP UtahMALT1
SNP : HGBaseMALT1
Genetic variants : HAPMAPMALT1
Somatic Mutations in Cancer : COSMICMALT1 
Translocation Breakpoints in Cancer : TICdbMALT1 
Mutations and Diseases : HGMDMALT1
Hereditary diseases : OMIM604860   
Hereditary diseases : GENETests604860   
Diseases : Genetic AssociationMALT1
General knowledge
Homologs : HomoloGeneMALT1
Homology/Alignments : Family Browser UCSCMALT1
Phylogenetic Trees/Animal Genes : TreeFamMALT1
Catalytic activity : Enzyme3.4.22.- [ Enzyme-Expasy ]   3.4.22.- [ Enzyme-SRS ]   3.4.22.- [ IntEnz-EBI ]   3.4.22.- [ BRENDA ]   3.4.22.- [ KEGG ]   
Chemical/Protein Interactions : CTD10892
Keywords Ontology : AmiGOpositive regulation of T cell cytokine production  cysteine-type endopeptidase activity  ubiquitin-protein ligase activity  signal transducer activity  nucleus  cytoplasm  cytosol  proteolysis  anti-apoptosis  defense response  activation of NF-kappaB-inducing kinase activity  peptidase activity  kinase activator activity  modification-dependent protein catabolic process  CBM complex  positive regulation of interleukin-2 production  regulation of apoptosis  positive regulation of I-kappaB kinase/NF-kappaB cascade  protein self-association  T cell receptor signaling pathway  positive regulation of T cell activation  nuclear export  protein oligomerization  
Keywords Ontology : EGO-EBIpositive regulation of T cell cytokine production  cysteine-type endopeptidase activity  ubiquitin-protein ligase activity  signal transducer activity  nucleus  cytoplasm  cytosol  proteolysis  anti-apoptosis  defense response  activation of NF-kappaB-inducing kinase activity  peptidase activity  kinase activator activity  modification-dependent protein catabolic process  CBM complex  positive regulation of interleukin-2 production  regulation of apoptosis  positive regulation of I-kappaB kinase/NF-kappaB cascade  protein self-association  T cell receptor signaling pathway  positive regulation of T cell activation  nuclear export  protein oligomerization  
Pathways : BIOCARTA
Pathways : KEGGT cell receptor signaling pathwayB cell receptor signaling pathway
Other databases
Probes
Probes : ImagenesMALT1 Related clones (RZPD - Berlin)
Literature
PubMed48 Pubmed reference(s) in Entrez
PubGeneMALT1

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

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indexed on : Sat Jun 27 16:36:59 CEST 2009

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