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MALT1 Gene

protein-coding   GIFtS: 69
GCID: GC18P056339

Mucosa Associated Lymphoid Tissue Lymphoma Translocation...


(Previous symbol: MLT)
  See MALT1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mucosa Associated Lymphoid Tissue Lymphoma Translocation Gene 11 2     MLT12
MLT1 2 3 5     Caspase-Like Protein2
paracaspase1 2     Mucosa-Associated Lymphoid Tissue Lymphoma Translocation Protein 12
MALT Lymphoma-Associated Translocation2 3     EC 3.4.22.-3
IMD122 5     Paracaspase3

External Ids:    HGNC: 68191   Entrez Gene: 108922   Ensembl: ENSG000001721757   OMIM: 6048605   UniProtKB: Q9UDY83   

Export aliases for MALT1 gene to outside databases

Previous GC identifers: GC18P056267 GC18P056123 GC18P054487 GC18P054489 GC18P053046


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MALT1 Gene:
This gene has been found to be recurrently rearranged in chromosomal translocation with two other genes -
baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) and immunoglobulin heavy chain
locus - in mucosa-associated lymphoid tissue lymphomas. The protein encoded by this gene may play a role in
NF-kappaB activation. Two alternatively spliced transcript variants encoding different isoforms have been
described for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for MALT1 Gene:
MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1) is a protein-coding gene. Diseases associated with MALT1 include immunodeficiency 12, and malt lymphoma. GO annotations related to this gene include ubiquitin-protein ligase activity and peptidase activity.

UniProtKB/Swiss-Prot: MALT1_HUMAN, Q9UDY8
Function: Enhances BCL10-induced activation of NF-kappa-B. Involved in nuclear export of BCL10. Binds to TRAF6,
inducing TRAF6 oligomerization and activation of its ligase activity. Has ubiquitin ligase activity.
MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion

Gene Wiki entry for MALT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MALT1 gene promoter:
         ATF-2   MEF-2   Olf-1   c-Ets-1   GATA-1   MEF-2A   POU2F1   POU2F1a   aMEF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMALT1 promoter sequence
   Search Chromatin IP Primers for MALT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MALT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21   Ensembl cytogenetic band:  18q21.32   HGNC cytogenetic band: 18q21

MALT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MALT1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P056339:  view genomic region     (about GC identifiers)

Start:
56,338,618 bp from pter      End:
56,417,371 bp from pter
Size:
78,754 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MALT1_HUMAN, Q9UDY8 (See protein sequence)
Recommended Name: Mucosa-associated lymphoid tissue lymphoma translocation protein 1  
Size: 824 amino acids; 92272 Da
Subunit: Binds through its Ig-like domains to BCL10. Forms oligomers which bind to TRAF6
Selected PDB 3D structures from and Proteopedia for MALT1 (see all 8):
2G7R (3D)        3BFO (3D)        3K0W (3D)        3UO8 (3D)        3UOA (3D)        3V4O (3D)    
Secondary accessions: Q9NTB7 Q9ULX4
Alternative splicing: 2 isoforms:  Q9UDY8-1   Q9UDY8-2   

Explore the universe of human proteins at neXtProt for MALT1: NX_Q9UDY8

Explore proteomics data for MALT1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MALT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_006776.1  NP_776216.1  

    ENSEMBL proteins: 
     ENSP00000319279   ENSP00000304161   ENSP00000467222  
    Reactome Protein details: Q9UDY8

    MALT1 Human Recombinant Protein Products:

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    antibodies-online proteins for MALT1 (4 products) 

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    Selected InterPro protein domains (see all 7):
     IPR003598 Ig_sub2
     IPR001309 Pept_C14_ICE_p20
     IPR011029 DEATH-like_dom
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9UDY8

    ProtoNet protein and cluster: Q9UDY8

    2 Blocks protein domains:
    IPB001309 Caspase-1
    IPB003598 Immunoglobulin C-2 type


    UniProtKB/Swiss-Prot: MALT1_HUMAN, Q9UDY8
    Similarity: Belongs to the peptidase C14B family
    Similarity: Contains 1 death domain
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains


    Find genes that share domains with MALT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MALT1_HUMAN, Q9UDY8
    Function: Enhances BCL10-induced activation of NF-kappa-B. Involved in nuclear export of BCL10. Binds to TRAF6,
    inducing TRAF6 oligomerization and activation of its ligase activity. Has ubiquitin ligase activity.
    MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion

         Genatlas biochemistry entry for MALT1:
    mucosa associated lymphoid tissue rearranged with API2 in the t(11;18)(q21;q21) in extranodal marginal zone B-cell
    lymphomas,in low-grade B cell lymphoma of mucosa associated lymphoid tissue

         Enzyme Number (IUBMB): EC 3.4.22.-1

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IEA--
    GO:0004197cysteine-type endopeptidase activity NAS11090634
    GO:0004842ubiquitin-protein ligase activity IDA14695475
    GO:0004871signal transducer activity IMP12761501
    GO:0005515protein binding IPI14695475
         
    Find genes that share ontologies with MALT1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MALT1:
     Decreased telomerase activity 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Malt1):
     hematopoietic system  immune system 

    Find genes that share phenotypes with MALT1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MALT1: Malt1tm1Jrld Malt1tm1Vmd

       genOway: Develop your customized and physiologically relevant rodent model for MALT1

    miRNA
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    miRTarBase miRNAs that target MALT1:
    hsa-mir-21-5p (MIRT030793)

    Block miRNA regulation of human, mouse, rat MALT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MALT1 (see all 20):
    hsa-miR-142-3p hsa-miR-607 hsa-miR-300 hsa-miR-578 hsa-miR-759 hsa-miR-371-5p hsa-miR-373* hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidMALT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MALT1

    Gene Editing
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    Addgene plasmids for MALT1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MALT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MALT1_HUMAN, Q9UDY8: Cytoplasm, perinuclear region. Nucleus. Note=Shuttles between the nucleus and cytoplasm.
    Found in perinuclear structures together with BCL10
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    plasma membrane4
    extracellular1
    golgi apparatus1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16123224
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with MALT1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MALT1 About   (see all 21)  
    See pathways by source

    SuperPathContained pathways About
    1B cell receptor signaling pathway (KEGG)
    B cell receptor signaling pathway0.42
    T cell receptor signaling pathway0.38
    BCR signaling pathway0.42
    TCR Signaling Pathway0.36
    2Downstream Signaling Events Of B Cell Receptor (BCR)
    Downstream Signaling Events Of B Cell Receptor (BCR)0.79
    Signaling by the B Cell Receptor (BCR)0.79
    3TCR signaling (REACTOME)
    Downstream TCR signaling0.73
    TCR signaling0.73
    4TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    TCR Signaling0.68
    5TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells0.64
    TCR signaling in naive CD4+ T cells0.64


    Find genes that share SuperPaths with MALT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for MALT1
        Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MALT1
        PI3K Signaling in B-Lymphocyte
    PKC-Theta Pathway
    TCR Signaling
    CD28 Signaling in T-Helper Cell
    NF-KappaB Family Pathway

    3 Cell Signaling Technology (CST) Pathways for MALT1
        Apoptosis and Autophagy
    Lymphocyte Signaling
    NF-kappaB Signaling

    1 GeneGo (Thomson Reuters) Pathway for MALT1
        Immune response T cell receptor signaling pathway

    5 BioSystems Pathways for MALT1
        TCR Signaling Pathway
    TCR signaling in naive CD4+ T cells
    Canonical NF-kappaB pathway
    TCR signaling in naive CD8+ T cells
    BCR signaling pathway

    1 Sino Biological Pathway for MALT1
        NF-kB (NFkB) Pathway

    3 Reactome Pathways for MALT1
        Downstream TCR signaling
    FCERI mediated NF-kB activation
    Activation of NF-kappaB in B cells


    4 Kegg Pathways  (Kegg details for MALT1):
        NF-kappa B signaling pathway
    T cell receptor signaling pathway
    B cell receptor signaling pathway
    Tuberculosis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MALT1: 
              NFKB Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat
              Antifungal Response in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MALT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MALT1 (Q9UDY81, 2, 3 ENSP000003192794) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL10O959991, 2, 3EBI-1047372,EBI-958922 MINT-7228629 MINT-6177529 MINT-6177625 MINT-8143041 I2D: score=8 
    TRAF6Q9Y4K31, 2, 3EBI-1047372,EBI-359276 MINT-6177590 MINT-6177582 MINT-6177625 I2D: score=7 
    SQSTM1Q135011, 2, 3, ENSP000003744554EBI-1047372,EBI-307104 MINT-2844299 MINT-2844278 I2D: score=3 STRING: ENSP00000374455
    CARD11Q9BXL72, 3, ENSP000003801504MINT-6177529 MINT-6177640 MINT-8143041 I2D: score=1 STRING: ENSP00000380150
    MAP3K7O433182, 3, ENSP000003583354MINT-6177574 I2D: score=3 STRING: ENSP00000358335
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    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001923B-1 B cell differentiation IEA--
    GO:0002237response to molecule of bacterial origin IEA--
    GO:0002726positive regulation of T cell cytokine production IMP15125833
    GO:0006508proteolysis IDA18223652
    GO:0006952defense response NAS10523859

    Find genes that share ontologies with MALT1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for MALT1
      Browse compounds at ApexBio 

    Browse Tocris compounds for MALT1

    4 Novoseek inferred chemical compound relationships for MALT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 31.5 4 15598810 (1), 19714753 (1)
    paraffin 13.4 1 19094584 (1)
    lipid 0 6 14754896 (2), 15598810 (1), 15541657 (1)
    cysteine 0 1 17967946 (1)



    Find genes that share compounds with MALT1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MALT1 gene (2 alternative transcripts): 
    NM_006785.3  NM_173844.2  

    Unigene Cluster for MALT1:

    Mucosa associated lymphoid tissue lymphoma translocation gene 1
    Hs.601217  [show with all ESTs]
    Unigene Representative Sequence: NM_006785
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000348428(uc002lhm.1 uc002lhn.1) ENST00000345724 ENST00000591792
    ENST00000589873 ENST00000587438
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MALT1 (see all 20):
    hsa-miR-142-3p hsa-miR-607 hsa-miR-300 hsa-miR-578 hsa-miR-759 hsa-miR-371-5p hsa-miR-373* hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidMALT1 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 2): MALT1 (NM_006785)
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    Addgene plasmids for MALT1 
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      QuantiTect SYBR Green Assays in human, mouse, rat MALT1
      QuantiFast Probe-based Assays in human, mouse, rat MALT1

    Additional mRNA sequence: 

    AB026118.1 AF070528.1 AF130356.2 AF316597.1 AK024859.1 AK291386.1 AL137399.1 BC030143.2 

    8 DOTS entries:

    DT.95378868  DT.409881  DT.95378865  DT.100022175  DT.102830301  DT.408942  DT.455907  DT.99949626 

    Selected AceView cDNA sequences (see all 132):

    CA389837 BC030143 BX103691 AW500548 CA413217 AL137399 NM_006785 BU685883 
    BM055371 BQ130948 AA706088 AW292944 BM724275 AF316597 AK092004 AI139811 
    AA243288 AB026118 AA687848 AL599422 CB129946 AA767835 BM680409 BQ023987 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MALT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGATAGACT
    MALT1 Expression
    About this image


    MALT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    MALT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MALT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.601217

    UniProtKB/Swiss-Prot: MALT1_HUMAN, Q9UDY8
    Tissue specificity: Highly expressed in peripheral blood mononuclear cells. Detected at lower levels in bone
    marrow, thymus and lymph node, and at very low levels in colon and lung

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MALT1: 
              NFKB Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat
              Antifungal Response in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat MALT1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MALT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MALT1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Malt11 , 5 mucosa associated lymphoid tissue lymphoma translocation more1, 5 86.15(n)1
    88.29(a)1
      18 (38.56 cM)5
    2403541  NM_172833.21  NP_766421.11 
     654309635 
    chicken
    (Gallus gallus)
    Aves LOC4268521 mucosa-associated lymphoid tissue lymphoma translocation more 71.73(n)
    70.62(a)
      426852  XM_004949002.1  XP_004949059.1 
    lizard
    (Anolis carolinensis)
    Reptilia MALT16
    mucosa associated lymphoid tissue lymphoma translo...
    65(a)
    1 ↔ 1
    GL343213.1(2788991-2832854)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia malt11 mucosa associated lymphoid tissue lymphoma translocation more 64.1(n)
    64.06(a)
      100493493  XM_004910398.1  XP_004910455.1 
    zebrafish
    (Danio rerio)
    Actinopterygii malt12 mucosa associated lymphoid tissue lymphoma translocation more 74.36(n)   259196  AF316598.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F22D3.61 , 3 F22D3.61 26(a)3
    46.9(n)1
    30.84(a)1
      II(6947908-6951232)3
    1741351  NM_063023.61  NP_495424.21 


    ENSEMBL Gene Tree for MALT1 (if available)
    TreeFam Gene Tree for MALT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MALT1 (see all 1530)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0708574
    Immunodeficiency 12 (IMD12)4--see VAR_0708572 S I mis40--------
    rs1117145661,2
    C,F--56336911(+) AAAAAG/TACCAG 2 -- us2k12Minor allele frequency- T:0.06CSA WA 120
    rs1830530041,2
    --56336926(+) AAAAGG/TTAATG 2 -- us2k10--------
    rs1131459911,2
    C,F--56336955(+) GGAGGG/ATGGCG 2 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1388347401,2
    --56337096(+) GAGCTA/GTATTG 2 -- us2k10--------
    rs1493746311,2
    --56337211(+) GAAGAC/TCTCTG 2 -- us2k10--------
    rs124585371,2
    C,F,H--56337296(+) ACAGAT/GCCTCA 2 -- us2k123Minor allele frequency- G:0.15NS EA NA WA CSA 2777
    rs129636571,2
    C,F,A--56337350(+) TGAAGC/TGGTTG 2 -- us2k14Minor allele frequency- T:0.04NA 126
    rs1447103991,2
    C--56337351(+) GAAGCA/GGTTGG 2 -- us2k10--------
    rs1120229921,2
    C--56337415(+) TAATAG/ACATTT 2 -- us2k11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for MALT1 (56338618 - 56417371 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MALT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2447858CNV Deletion19546169
    nsv820257CNV Loss19587683
    nsv519742CNV Loss19592680
    nsv524760CNV Loss19592680
    nsv819829CNV Loss19587683

    Human Gene Mutation Database (HGMD): MALT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MALT1
    DNA2.0 Custom Variant and Variant Library Synthesis for MALT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604860   
    OMIM disorders: 615468  
    UniProtKB/Swiss-Prot: MALT1_HUMAN, Q9UDY8
  • Note=A chromosomal aberration involving MALT1 is recurrent in low-grade mucosa-associated lymphoid tissue
    (MALT lymphoma). Translocation t(11;18)(q21;q21) with BIRC2. This translocation is found in approximately 50% of
    cytogenetically abnormal low-grade MALT lymphoma

  • 10 diseases for MALT1:    
    About MalaCards
    immunodeficiency 12    malt lymphoma    lung lymphoma    marginal zone b-cell lymphoma
    gallbladder lymphoma    primary cutaneous marginal zone b-cell lymphoma    diffuse large b-cell lymphoma    gastric lymphoma
    edwards syndrome    splenic marginal zone lymphoma

    5 diseases from the University of Copenhagen DISEASES database for MALT1:
    Lymphoma     Edwards syndrome     Gallbladder lymphoma     Gastric lymphoma
    Lung lymphoma

    Find genes that share disorders with MALT1           About GenesLikeMe

    10 Novoseek inferred disease relationships for MALT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    malt lymphoma 93.9 98 15682443 (8), 14760068 (4), 10523859 (3), 11090634 (3) (see all 46)
    lymphoma b-cell 79.9 31 18367485 (4), 14652825 (3), 11066071 (2), 15377491 (2) (see all 19)
    lymphoma 71.9 15 19394813 (2), 11066071 (1), 12560219 (1), 10702396 (1) (see all 10)
    chromosomal aberrations 61.7 10 19080537 (2), 14760068 (2), 16194887 (1), 10702396 (1) (see all 7)
    trisomy 58.7 11 15047736 (3), 18974375 (1), 20305621 (1), 18234275 (1) (see all 6)
    lymphoma non-hodgkins 39.1 3 12560219 (2), 15598810 (1)
    tumors 15.9 9 19738055 (2), 12647364 (1), 14754896 (1), 19897720 (1) (see all 5)
    necrosis 0 1 14754896 (1)
    metastasis 0 1 15067352 (1)
    cancer 0 1 19841088 (1)

    Genetic Association Database (GAD): MALT1
    Human Genome Epidemiology (HuGE) Navigator: MALT1 (1 document)

    Export disorders for MALT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MALT1 gene, integrated from 10 sources (see all 188):
    (articles sorted by number of sources associating them with MALT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 10339464)1, 2, 3, 9 Dierlamm J.... Marynen P. (Blood 1999)
    2. 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. (PubMed id 10523859)1, 2, 3, 9 Akagi T.... Seto M. (Oncogene 1999)
    3. The TRAF6 ubiquitin ligase and TAK1 kinase mediate IKK activation by BCL10 and MALT1 in T lymphocytes. (PubMed id 15125833)1, 2, 9 Sun L.... Chen Z.J. (Mol. Cell 2004)
    4. Germline variations of the MALT1 gene as risk factors in the development of primary gastric B-cell lymphoma. (PubMed id 19394813)1, 4, 9 Hellmig S....Schreiber S. (Eur. J. Cancer 2009)
    5. MALT1 contains nuclear export signals and regulates cytoplasmic localization of BCL10. (PubMed id 16123224)1, 2, 9 Nakagawa M.... Seto M. (Blood 2005)
    6. Identification of paracaspases and metacaspases. Two ancient families of caspase-like proteins, one of which plays a key role in MALT lymphoma. (PubMed id 11090634)1, 2, 9 Uren A.G.... Dixit V.M. (Mol. Cell 2000)
    7. Bcl10 and MALT1, independent targets of chromosomal translocation in MALT lymphoma, cooperate in a novel NF-kappa B signaling pathway. (PubMed id 11262391)1, 2, 9 Lucas P.C.... Nunez G. (J. Biol. Chem. 2001)
    8. API2-MALT1 chimeric transcripts involved in mucosa-associated lymphoid tissue type lymphoma predict heterogeneous products. (PubMed id 10702396)1, 2, 9 Motegi M.... Seto M. (Am. J. Pathol. 2000)
    9. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PubMed id 21833088)1, 4  ....Compston A. (Nature 2011)
    10. Bcl10 activates the NF-kappaB pathway through ubiquitination of NEMO. (PubMed id 14695475)1, 2 Zhou H.... Dixit V.M. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10892 HGNC: 6819 AceView: MALT1 Ensembl:ENSG00000172175 euGenes: HUgn10892
    ECgene: MALT1 Kegg: 10892 H-InvDB: MALT1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MALT1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MALT1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MALT1 gene:
    Search GeneIP for patents involving MALT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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