Human Gene MALT1 (ENST00000649217.2_7) from GENCODE V45lift37
Description: Homo sapiens MALT1 paracaspase (MALT1), transcript variant 1, mRNA. (from RefSeq NM_006785) RefSeq Summary (NM_006785): This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018]. Gencode Transcript: ENST00000649217.2_7 Gencode Gene: ENSG00000172175.16_16 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
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: Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signaling downstream of CARD domain-containing proteins (CARD9, CARD11 and CARD14) to activate NF-kappa-B and MAP kinase p38 pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (PubMed:11262391, PubMed:18264101, PubMed:24074955). Mediates BCL10 cleavage: MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion (PubMed:11262391, PubMed:18264101). Involved in the induction of T helper 17 cells (Th17) differentiation (PubMed:11262391, PubMed:18264101). Cleaves RC3H1 and ZC3H12A in response to T-cell receptor (TCR) stimulation which releases their cooperatively repressed targets to promote Th17 cell differentiation (By similarity). Also mediates cleavage of N4BP1 in T-cells following TCR-mediated activation, leading to N4BP1 inactivation (PubMed:31133753). May also have ubiquitin ligase activity: binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity (PubMed:14695475). SUBUNIT: Homooligomer; forms oligomers which bind to TRAF6 (PubMed:15125833). Forms a complex with CARD14 and MALT1; resulting in the formation of a CBM (CARD14-BCL10-MALT1) complex (PubMed:27113748). Forms a complex with CARD11 and MALT1; resulting in the formation of a CBM (CARD11-BCL10-MALT1) complex (PubMed:28628108, PubMed:24074955). Forms a complex with CARD9 and MALT1; resulting in the formation of a CBM (CARD9-BCL10-MALT1) complex (By similarity). INTERACTION: Q9UDY8; O95999: BCL10; NbExp=19; IntAct=EBI-1047372, EBI-958922; Q9UDY8; Q9BXL7: CARD11; NbExp=2; IntAct=EBI-1047372, EBI-7006141; Q9UDY8; Q14790: CASP8; NbExp=10; IntAct=EBI-1047372, EBI-78060; Q9UDY8; P48729: CSNK1A1; NbExp=7; IntAct=EBI-1047372, EBI-1383726; Q9UDY8; Q9Y6K9: IKBKG; NbExp=4; IntAct=EBI-1047372, EBI-81279; Q9UDY8; Q9UDY8: MALT1; NbExp=2; IntAct=EBI-1047372, EBI-1047372; Q9UDY8; Q96PU8: QKI; NbExp=2; IntAct=EBI-1047372, EBI-945792; Q9UDY8; Q9H0F6: SHARPIN; NbExp=2; IntAct=EBI-1047372, EBI-3942966; Q9UDY8; Q13501: SQSTM1; NbExp=2; IntAct=EBI-1047372, EBI-307104; Q9UDY8; Q9Y4K3: TRAF6; NbExp=5; IntAct=EBI-1047372, EBI-359276; Q9UDY8; P0CG48: UBC; NbExp=4; IntAct=EBI-1047372, EBI-3390054; Q9UDY8-2; P54252: ATXN3; NbExp=3; IntAct=EBI-12056869, EBI-946046; Q9UDY8-2; P46379-2: BAG6; NbExp=3; IntAct=EBI-12056869, EBI-10988864; Q9UDY8-2; G5E9A7: DMWD; NbExp=3; IntAct=EBI-12056869, EBI-10976677; Q9UDY8-2; P50570-2: DNM2; NbExp=3; IntAct=EBI-12056869, EBI-10968534; Q9UDY8-2; Q9BSK4: FEM1A; NbExp=3; IntAct=EBI-12056869, EBI-2515349; Q9UDY8-2; Q96JP0: FEM1C; NbExp=3; IntAct=EBI-12056869, EBI-2515330; Q9UDY8-2; P28799: GRN; NbExp=3; IntAct=EBI-12056869, EBI-747754; Q9UDY8-2; P04792: HSPB1; NbExp=3; IntAct=EBI-12056869, EBI-352682; Q9UDY8-2; O60333-2: KIF1B; NbExp=3; IntAct=EBI-12056869, EBI-10975473; Q9UDY8-2; O14901: KLF11; NbExp=3; IntAct=EBI-12056869, EBI-948266; Q9UDY8-2; O14832: PHYH; NbExp=3; IntAct=EBI-12056869, EBI-721853; Q9UDY8-2; P60891: PRPS1; NbExp=3; IntAct=EBI-12056869, EBI-749195; Q9UDY8-2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-12056869, EBI-5235340; Q9UDY8-2; O76024: WFS1; NbExp=3; IntAct=EBI-12056869, EBI-720609; 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: Immunodeficiency 12 (IMD12) [MIM:615468]: A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens. Note=The disease is caused by variants affecting the gene represented in this entry. 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. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/240/MALT1";
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.
ModBase Predicted Comparative 3D Structure on Q9UDY8
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Gene Ontology (GO) Annotations with Structured Vocabulary
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:0031663 lipopolysaccharide-mediated signaling pathway GO:0032731 positive regulation of interleukin-1 beta production 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:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process 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
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
