Human Gene MALT1 (ENST00000649217.2_9) from GENCODE V47lift37
  Description: MALT1 paracaspase, transcript variant 1 (from RefSeq NM_006785.4)
Gencode Transcript: ENST00000649217.2_9
Gencode Gene: ENSG00000172175.16_18
Transcript (Including UTRs)
   Position: hg19 chr18:56,338,697-56,421,709 Size: 83,013 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr18:56,338,876-56,415,074 Size: 76,199 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:56,338,697-56,421,709)mRNA (may differ from genome)Protein (824 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MALT1_HUMAN
DESCRIPTION: RecName: Full=Mucosa-associated lymphoid tissue lymphoma translocation protein 1; EC=3.4.22.-; AltName: Full=MALT lymphoma-associated translocation; AltName: Full=Paracaspase;
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.
SUBUNIT: Binds through its Ig-like domains to BCL10. Forms oligomers which bind to TRAF6.
INTERACTION: Q14790:CASP8; NbExp=8; IntAct=EBI-1047372, EBI-78060;
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Nucleus. Note=Shuttles between the nucleus and cytoplasm. Found in perinuclear structures together with BCL10.
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.
DISEASE: 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.
SIMILARITY: Belongs to the peptidase C14B family.
SIMILARITY: Contains 1 death domain.
SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MALT1ID240.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MALT1
Diseases sorted by gene-association score: immunodeficiency 12* (1678), lymphoma, malt, somatic* (269), b-cell lymphoma of mucosa-associated lymphoid tissue* (129), lymphoma (39), b-cell lymphomas (33), marginal zone b-cell lymphoma (20), primary cutaneous marginal zone b-cell lymphoma (19), mastoiditis (18), lung lymphoma (16), prostate lymphoma (11), nodal marginal zone b-cell lymphoma (11), duodenitis (11), orofaciodigital syndrome viii (8), splenic marginal zone lymphoma (8), diffuse large b-cell lymphoma (7), cd3gamma deficiency (7), central nervous system lymphoma (7), cheilitis (6), lymphoma, non-hodgkin (6), gastric lymphoma (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C023514 2,6-dinitrotoluene
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • C085911 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D015127 9,10-Dimethyl-1,2-benzanthracene
  • D016604 Aflatoxin B1
  • D001151 Arsenic
  • D001205 Ascorbic Acid
  • D001564 Benzo(a)pyrene
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -97.50179-0.545 Picture PostScript Text
3' UTR -1844.306635-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011029 - DEATH-like
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub
IPR003598 - Ig_sub2
IPR011600 - Pept_C14_cat
IPR001309 - Pept_C14_ICE_p20

Pfam Domains:
PF00047 - Immunoglobulin domain
PF00656 - Caspase domain
PF07679 - Immunoglobulin I-set domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain
PF18703 - MALT1 Ig-like domain

SCOP Domains:
47986 - DEATH domain
48726 - Immunoglobulin
52129 - Caspase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2G7R - X-ray MuPIT 3BFO - X-ray MuPIT 3K0W - X-ray MuPIT 3UO8 - X-ray MuPIT 3UOA - X-ray MuPIT 3V4O - X-ray MuPIT 3V55 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UDY8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0004197 cysteine-type endopeptidase activity
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0016787 hydrolase activity
GO:0042802 identical protein binding
GO:0043621 protein self-association
GO:0019209 kinase activator activity

Biological Process:
GO:0001923 B-1 B cell differentiation
GO:0002223 stimulatory C-type lectin receptor signaling pathway
GO:0002237 response to molecule of bacterial origin
GO:0002726 positive regulation of T cell cytokine production
GO:0006508 proteolysis
GO:0006952 defense response
GO:0007250 activation of NF-kappaB-inducing kinase activity
GO:0009620 response to fungus
GO:0016567 protein ubiquitination
GO:0031398 positive regulation of protein ubiquitination
GO:0032743 positive regulation of interleukin-2 production
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0042098 T cell proliferation
GO:0042113 B cell activation
GO:0042981 regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045087 innate immune response
GO:0050852 T cell receptor signaling pathway
GO:0050856 regulation of T cell receptor signaling pathway
GO:0050870 positive regulation of T cell activation
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051168 nuclear export
GO:0051259 protein oligomerization
GO:2000321 positive regulation of T-helper 17 cell differentiation

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032449 CBM complex
GO:0032991 macromolecular complex
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF316597 - Homo sapiens paracaspase (MALT1) mRNA, complete cds.
AK291386 - Homo sapiens cDNA FLJ78650 complete cds, highly similar to Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.
AF130356 - Homo sapiens MALT lymphoma associated translocation (MLT) mRNA, complete cds.
BC030143 - Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1, mRNA (cDNA clone MGC:20650 IMAGE:4765195), complete cds.
AB026118 - Homo sapiens mRNA for MALT1, complete cds.
AB528440 - Synthetic construct DNA, clone: pF1KB5775, Homo sapiens MALT1 gene for mucosa associated lymphoid tissue lymphoma translocation gene 1, without stop codon, in Flexi system.
DQ892319 - Synthetic construct clone IMAGE:100004949; FLH185225.01X; RZPDo839G09146D mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1) gene, encodes complete protein.
DQ895521 - Synthetic construct Homo sapiens clone IMAGE:100009981; FLH185221.01L; RZPDo839G09145D mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1) gene, encodes complete protein.
JD217704 - Sequence 198728 from Patent EP1572962.
JD443966 - Sequence 424990 from Patent EP1572962.
JD150618 - Sequence 131642 from Patent EP1572962.
JD369744 - Sequence 350768 from Patent EP1572962.
JD138864 - Sequence 119888 from Patent EP1572962.
JD408121 - Sequence 389145 from Patent EP1572962.
AF123094 - Homo sapiens API2-MLT fusion protein (API2-MLT) mRNA, complete cds.
AK092004 - Homo sapiens cDNA FLJ34685 fis, clone LIVER2009110, highly similar to Homo sapiens API2-MLT fusion protein (API2-MLT) mRNA.
AK024859 - Homo sapiens cDNA: FLJ21206 fis, clone COL00346, highly similar to AB026118 Homo sapiens mRNA for MALT1.
AL137399 - Homo sapiens mRNA; cDNA DKFZp434L132 (from clone DKFZp434L132).
JD548695 - Sequence 529719 from Patent EP1572962.
JD541096 - Sequence 522120 from Patent EP1572962.
JD288662 - Sequence 269686 from Patent EP1572962.
JD171236 - Sequence 152260 from Patent EP1572962.
JD493103 - Sequence 474127 from Patent EP1572962.
JD491316 - Sequence 472340 from Patent EP1572962.
AF070528 - Homo sapiens clone 24631 mRNA sequence.
JD248843 - Sequence 229867 from Patent EP1572962.
JD557833 - Sequence 538857 from Patent EP1572962.
JD181999 - Sequence 163023 from Patent EP1572962.
JD438525 - Sequence 419549 from Patent EP1572962.
JD521389 - Sequence 502413 from Patent EP1572962.
JD145755 - Sequence 126779 from Patent EP1572962.
JD315226 - Sequence 296250 from Patent EP1572962.
JD191576 - Sequence 172600 from Patent EP1572962.
JD270241 - Sequence 251265 from Patent EP1572962.
JD044727 - Sequence 25751 from Patent EP1572962.
JD284876 - Sequence 265900 from Patent EP1572962.
JD181927 - Sequence 162951 from Patent EP1572962.
JD509781 - Sequence 490805 from Patent EP1572962.
JD481537 - Sequence 462561 from Patent EP1572962.
AK026459 - Homo sapiens cDNA: FLJ22806 fis, clone KAIA2845.
JD389002 - Sequence 370026 from Patent EP1572962.
JD457563 - Sequence 438587 from Patent EP1572962.
JD054083 - Sequence 35107 from Patent EP1572962.
JD389003 - Sequence 370027 from Patent EP1572962.
JD312047 - Sequence 293071 from Patent EP1572962.
JD346539 - Sequence 327563 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UDY8 (Reactome details) participates in the following event(s):

R-HSA-1168644 CARMA1 recruits MALT1 and BCL10 forming CBM Complex
R-HSA-5607744 MALT1 binds BCL10
R-HSA-5660665 Caspase-8 binds MALT
R-HSA-202478 Interaction and oligomerization of MALT1 to Bcl10
R-HSA-2730836 Interaction of BCL10:MALT1 with CARMA1 to form CBM complex
R-HSA-5660662 ASC binds Caspase-8 complex
R-HSA-202472 Translocation of TRAF6 to CBM complex
R-HSA-1168641 TAK1 associated with the CBM complex phosphorylates IKKbeta
R-HSA-202510 Activation of TAK1-TAB2 complex
R-HSA-202453 Auto-ubiquitination of TRAF6
R-HSA-5660663 Caspase-8 cleaves IL1B precursor
R-HSA-202500 Activation of IKK complex
R-HSA-1169091 Activation of NF-kappaB in B cells
R-HSA-2871837 FCERI mediated NF-kB activation
R-HSA-5607764 CLEC7A (Dectin-1) signaling
R-HSA-5660668 CLEC7A/inflammasome pathway
R-HSA-202424 Downstream TCR signaling
R-HSA-1168372 Downstream signaling events of B Cell Receptor (BCR)
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-5621481 C-type lectin receptors (CLRs)
R-HSA-202403 TCR signaling
R-HSA-983705 Signaling by the B Cell Receptor (BCR)
R-HSA-168249 Innate Immune System
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000649217.1, MALT1 , MALT1_HUMAN, MLT , NM_006785, Q9NTB7, Q9UDY8, Q9ULX4, uc328pwt.1, uc328pwt.2
UCSC ID: ENST00000649217.2_9
RefSeq Accession: NM_006785.4
Protein: Q9UDY8 (aka MALT1_HUMAN or MLT1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.