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MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1)

Identity

Other namesMLT
huParacaspase
HGNC (Hugo) MALT1
LocusID (NCBI) 10892
Location 18q21.32
Location_base_pair Starts at 56338618 and ends at 56417371 bp from pter ( according to hg19-Feb_2009)  [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 Ćin 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

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131 t1119ELLID1029 t0812q24q22ID2057

External links

Nomenclature
HGNC (Hugo)MALT1   6819
Cards
AtlasMALT1ID240
Entrez_Gene (NCBI)MALT1  10892  mucosa associated lymphoid tissue lymphoma translocation gene 1
GeneCards (Weizmann)MALT1
Ensembl (Hinxton)ENSG00000172175 [Gene_View]  chr18:56338618-56417371 [Contig_View]  MALT1 [Vega]
ICGC DataPortalENSG00000172175
cBioPortalMALT1
AceView (NCBI)MALT1
Genatlas (Paris)MALT1
WikiGenes10892
SOURCE (Princeton)NM_006785 NM_173844
Genomic and cartography
GoldenPath (UCSC)MALT1  -  18q21.32   chr18:56338618-56417371 +  18q21   [Description]    (hg19-Feb_2009)
EnsemblMALT1 - 18q21 [CytoView]
Mapping of homologs : NCBIMALT1 [Mapview]
OMIM604860   615468   
Gene and transcription
Genbank (Entrez)AB026118 AF070528 AF130356 AF316597 AK024859
RefSeq transcript (Entrez)NM_006785 NM_173844
RefSeq genomic (Entrez)AC_000150 NC_000018 NC_018929 NG_033893 NT_010966 NW_001838469 NW_004929411
Consensus coding sequences : CCDS (NCBI)MALT1
Cluster EST : UnigeneHs.601217 [ NCBI ]
CGAP (NCI)Hs.601217
Alternative Splicing : Fast-db (Paris)GSHG0014077
Alternative Splicing GalleryENSG00000172175
Gene ExpressionMALT1 [ NCBI-GEO ]     MALT1 [ SEEK ]   MALT1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UDY8 (Uniprot)
NextProtQ9UDY8  [Medical]
With graphics : InterProQ9UDY8
Splice isoforms : SwissVarQ9UDY8 (Swissvar)
Catalytic activity : Enzyme3.4.22.- [ Enzyme-Expasy ]   3.4.22.-3.4.22.- [ IntEnz-EBI ]   3.4.22.- [ BRENDA ]   3.4.22.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CASPASE_P20 (PS50208)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)Caspase-like_dom [organisation]   DEATH-like_dom [organisation]   Ig-like_dom [organisation]   Ig-like_fold [organisation]   Ig_sub [organisation]   Ig_sub2 [organisation]   Pept_C14_caspase [organisation]   Pept_C14_ICE_p20 [organisation]  
Related proteins : CluSTrQ9UDY8
Domain families : Pfam (Sanger)Peptidase_C14 (PF00656)   
Domain families : Pfam (NCBI)pfam00656   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
DMDM Disease mutations10892
Blocks (Seattle)Q9UDY8
PDB (SRS)2G7R    3BFO    3K0W    3UO8    3UOA    3V4O    3V55    4I1R   
PDB (PDBSum)2G7R    3BFO    3K0W    3UO8    3UOA    3V4O    3V55    4I1R   
PDB (IMB)2G7R    3BFO    3K0W    3UO8    3UOA    3V4O    3V55    4I1R   
PDB (RSDB)2G7R    3BFO    3K0W    3UO8    3UOA    3V4O    3V55    4I1R   
Human Protein AtlasENSG00000172175 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9UDY8
HPRD06892
IPIIPI00009540   IPI00183015   
Protein Interaction databases
DIP (DOE-UCLA)Q9UDY8
IntAct (EBI)Q9UDY8
FunCoupENSG00000172175
BioGRIDMALT1
InParanoidQ9UDY8
Interologous Interaction database Q9UDY8
IntegromeDBMALT1
STRING (EMBL)MALT1
Ontologies - Pathways
Ontology : AmiGOB-1 B cell differentiation  protease binding  response to molecule of bacterial origin  positive regulation of T cell cytokine production  cysteine-type endopeptidase activity  ubiquitin-protein transferase activity  signal transducer activity  protein binding  nucleus  nucleolus  cytoplasm  cytosol  plasma membrane  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  CBM complex  positive regulation of interleukin-2 production  Fc-epsilon receptor signaling pathway  T cell proliferation  regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  protein self-association  innate immune response  perinuclear region of cytoplasm  T cell receptor signaling pathway  T cell receptor signaling pathway  regulation of T cell receptor signaling pathway  positive regulation of T cell activation  positive regulation of NF-kappaB transcription factor activity  nuclear export  protein oligomerization  
Ontology : EGO-EBIB-1 B cell differentiation  protease binding  response to molecule of bacterial origin  positive regulation of T cell cytokine production  cysteine-type endopeptidase activity  ubiquitin-protein transferase activity  signal transducer activity  protein binding  nucleus  nucleolus  cytoplasm  cytosol  plasma membrane  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  CBM complex  positive regulation of interleukin-2 production  Fc-epsilon receptor signaling pathway  T cell proliferation  regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  protein self-association  innate immune response  perinuclear region of cytoplasm  T cell receptor signaling pathway  T cell receptor signaling pathway  regulation of T cell receptor signaling pathway  positive regulation of T cell activation  positive regulation of NF-kappaB transcription factor activity  nuclear export  protein oligomerization  
Pathways : KEGGNF-kappa B signaling pathway    T cell receptor signaling pathway    B cell receptor signaling pathway    Tuberculosis   
Protein Interaction DatabaseMALT1
Wikipedia pathwaysMALT1
Gene fusion - rearrangments
Rearrangement : TICdbMALT1 [18q21.32]  -  MAP4 [3q25.32]
Rearrangement : TICdbBIRC3 [11q22.2]  -  MALT1 [Xp11.23]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MALT1
snp3D : Map Gene to Disease10892
SNP (GeneSNP Utah)MALT1
SNP : HGBaseMALT1
Genetic variants : HAPMAPMALT1
Exome VariantMALT1
1000_GenomesMALT1 
ICGC programENSG00000172175 
Cancer Gene: CensusMALT1 
Somatic Mutations in Cancer : COSMICMALT1 
CONAN: Copy Number AnalysisMALT1 
Mutations and Diseases : HGMDMALT1
Mutations and Diseases : intOGenMALT1
Genomic VariantsMALT1  MALT1 [DGVbeta]
dbVarMALT1
ClinVarMALT1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM604860    615468   
MedgenMALT1
GENETestsMALT1
Disease Genetic AssociationMALT1
Huge Navigator MALT1 [HugePedia]  MALT1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneMALT1
Homology/Alignments : Family Browser (UCSC)MALT1
Phylogenetic Trees/Animal Genes : TreeFamMALT1
Chemical/Protein Interactions : CTD10892
Chemical/Pharm GKB GenePA30568
Clinical trialMALT1
Cancer Resource (Charite)ENSG00000172175
Other databases
Probes
Litterature
PubMed105 Pubmed reference(s) in Entrez
CoreMineMALT1
iHOPMALT1
OncoSearchMALT1

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 (mucosa associated lymphoid tissue lymphoma translocation gene 1)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(1):10-12.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/MALT1ID240.html

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indexed on : Tue Aug 26 15:23:48 CEST 2014

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