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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes Human disease related genes Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
18
Cytoband
q21.32
Chromosome location (bp)
58671465 - 58754477
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1,2,3. Mediates BCL10 cleavage: MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion 4,5. Involved in the induction of T helper 17 cells (Th17) differentiation 6,7. 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 8. May also have ubiquitin ligase activity: binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity 9....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Protease
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Immunity, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q9UDY8 [Direct mapping] Mucosa-associated lymphoid tissue lymphoma translocation protein 1
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Enzymes Peptidases Cysteine-type peptidases SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001650[fibrillar center] GO:0002376[immune system process] GO:0002726[positive regulation of T cell cytokine production] GO:0004175[endopeptidase activity] GO:0004197[cysteine-type endopeptidase activity] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006952[defense response] GO:0007250[activation of NF-kappaB-inducing kinase activity] GO:0008233[peptidase activity] GO:0016567[protein ubiquitination] GO:0016787[hydrolase activity] GO:0019209[kinase activator activity] GO:0031398[positive regulation of protein ubiquitination] GO:0032449[CBM complex] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032743[positive regulation of interleukin-2 production] GO:0032991[protein-containing complex] GO:0036094[small molecule binding] GO:0042113[B cell activation] GO:0042802[identical protein binding] 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:0043621[protein self-association] GO:0045087[innate immune response] GO:0048471[perinuclear region of cytoplasm] GO:0050852[T cell receptor signaling pathway] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051168[nuclear export] GO:0051603[proteolysis involved in protein catabolic process] GO:2000321[positive regulation of T-helper 17 cell differentiation]
K7EP42 [Direct mapping] Mucosa-associated lymphoid tissue lymphoma translocation protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Q9UDY8 [Direct mapping] Mucosa-associated lymphoid tissue lymphoma translocation protein 1
Show all
Enzymes Peptidases Cysteine-type peptidases SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001650[fibrillar center] GO:0001923[B-1 B cell differentiation] GO:0002020[protease binding] GO:0002096[polkadots] GO:0002376[immune system process] GO:0002726[positive regulation of T cell cytokine production] GO:0004175[endopeptidase activity] GO:0004197[cysteine-type endopeptidase activity] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006952[defense response] GO:0007250[activation of NF-kappaB-inducing kinase activity] GO:0008233[peptidase activity] GO:0009620[response to fungus] GO:0016567[protein ubiquitination] GO:0016787[hydrolase activity] GO:0019209[kinase activator activity] GO:0031398[positive regulation of protein ubiquitination] GO:0031663[lipopolysaccharide-mediated signaling pathway] GO:0032449[CBM complex] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032743[positive regulation of interleukin-2 production] GO:0032991[protein-containing complex] GO:0036094[small molecule binding] GO:0042098[T cell proliferation] GO:0042113[B cell activation] GO:0042802[identical protein binding] 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:0043621[protein self-association] GO:0045087[innate immune response] GO:0048471[perinuclear region of cytoplasm] 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:0051603[proteolysis involved in protein catabolic process] GO:0071222[cellular response to lipopolysaccharide] GO:2000321[positive regulation of T-helper 17 cell differentiation]
The Human Protein Atlas project is funded
