MALT1
MALT1 Gene Summary
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]
Details
| Type | Protein Coding |
| Official Symbol | MALT1 |
| Official Name | MALT1 paracaspase [Source:HGNC Symbol;Acc:HGNC:6819] |
| Ensembl ID | ENSG00000172175 |
| Bio databases IDs | |
| Aliases | MALT1 paracaspase, MALT1 protease, paracaspase 1 |
| Synonyms | A630046N12,D430033E09Rik,IMD12,LYMPHOID TISSUE LYMPHOMA TRANSLOCATION GENE 1,MALT1 paracaspase,MLT,MLT1,PARACASPASE,PCASP1 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MALT1 Ig-like domain
- protease binding
- immunoglobulin domain
- peptidase
- Immunoglobulin I-set domain
- caspase homology domain
- enzyme regulator activity
- protein binding
- protease activator
- identical protein binding
- TRAF6 binding domain
- paracaspase domain
- CASc
- Raptor N-terminal CASPase like domain
- endopeptidase
- cysteine endopeptidase
- binding protein
- Immunoglobulin like
- ubiquitin-protein transferase activity
- active site
- immunoglobulin-like protein domain
- kinase activator
- Death Domain Superfamily of protein-protein interaction domains
Pathways
Biological processes and signaling networks where the MALT1 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- UBC
- CARD11
- VHL
- MALT1
- BRD1
- RELB
- SHARPIN
- STUB1
- FYB1
- BCL10
disease
- neoplasia
- weight loss
- epithelial cancer
- epithelial neoplasia
- cancer
- lung cancer
- combined immunodeficiency
- experimental autoimmune encephalomyelitis
- multiple sclerosis
- glioma
regulated by
- NR3C1
- lipopolysaccharide
- tetradecanoylphorbol acetate
- NFAT5
- CD3E
- SH3BP2
- MALT1
- PLCG1
- FOXA1
- PKC (β,θ)
regulates
- AKT
- IL1B
- NFkB (complex)
- CASP3
- TNF
- IL10
- p38 MAPK
- CD44
- RBCK1
- FOXP3
role in cell
- proliferation
- migration
- survival
- quantity
- growth
- production in
- activation in
- molecular cleavage in
- number
- apoptosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- fibrillar center
- perinuclear region
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the MALT1 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- response to fungus
- regulation of apoptotic process
- B cell activation
- defense response
- positive regulation of NF-kappaB transcription factor activity
- positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
- nuclear export
- innate immune response
- negative regulation of apoptotic process
- T cell proliferation
- positive regulation of T cell cytokine production
- B-1 B cell differentiation
- proteolysis
- positive regulation of protein ubiquitination
- lipopolysaccharide-mediated signaling pathway
- positive regulation of T-helper 17 cell differentiation
- regulation of T cell receptor signaling pathway
- proteolysis involved in cellular protein catabolic process
- positive regulation of interleukin-1 beta production
- T cell receptor signaling pathway
- positive regulation of interleukin-2 production
CELLULAR COMPONENT
Where in the cell the gene product is active
- nucleus
- CBM complex
- perinuclear region of cytoplasm
- cytoplasm
- polkadots
- cytosol
- macromolecular complex
- fibrillar center
MOLECULAR FUNCTION
What the gene product does at the molecular level
- kinase activator activity
- ubiquitin-protein ligase activity
- identical protein binding
- protein binding
- cysteine-type endopeptidase activity
- endopeptidase activity
- small molecule binding
- protease binding
- peptidase activity