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MALT1 MALT1 paracaspase [ Homo sapiens (human) ]

Gene ID: 10892, updated on 8-Jul-2019

Summary

Official Symbol
MALT1provided by HGNC
Official Full Name
MALT1 paracaspaseprovided by HGNC
Primary source
HGNC:HGNC:6819
See related
Ensembl:ENSG00000172175 MIM:604860
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MLT; MLT1; IMD12; PCASP1
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]
Expression
Ubiquitous expression in lymph node (RPKM 9.6), appendix (RPKM 6.9) and 25 other tissues See more
Orthologs

Genomic context

See MALT1 in Genome Data Viewer
Location:
18q21.32
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (58671420..58754477)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (56338618..56417371)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L9 pseudogene 31 Neighboring gene uncharacterized LOC102724745 Neighboring gene uncharacterized LOC101927322 Neighboring gene uncharacterized LOC105372146 Neighboring gene mitochondrial ribosomal protein L37 pseudogene 1 Neighboring gene VISTA enhancer hs1397 Neighboring gene RNA, U6 small nuclear 219, pseudogene Neighboring gene long intergenic non-protein coding RNA 1926

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Immunodeficiency 12
MedGen: C3809583 OMIM: 615468 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog

Pathways from BioSystems

  • Activation of NF-kappaB in B cells, organism-specific biosystem (from REACTOME)
    Activation of NF-kappaB in B cells, organism-specific biosystemDAG and calcium activate protein kinase C beta (PKC-beta, Kochs et al. 1991) which phosphorylates CARMA1 and other proteins (Sommer et al. 2005). Phosphorylated CARMA1 recruits BCL10 and MALT1 to for...
  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
    B Cell Receptor Signaling Pathway, organism-specific biosystemThe functional B-cell receptor is a multi-protein complex consisting of an antigen binding subunit and a signaling subunit. The antigen binding subunit is the membrane bound immunoglobulin and the si...
  • B cell receptor signaling pathway, organism-specific biosystem (from KEGG)
    B cell receptor signaling pathway, organism-specific biosystemB cells are an important component of adaptive immunity. They produce and secrete millions of different antibody molecules, each of which recognizes a different (foreign) antigen. The B cell receptor...
  • B cell receptor signaling pathway, conserved biosystem (from KEGG)
    B cell receptor signaling pathway, conserved biosystemB cells are an important component of adaptive immunity. They produce and secrete millions of different antibody molecules, each of which recognizes a different (foreign) antigen. The B cell receptor...
  • BCR signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    BCR signaling pathway, organism-specific biosystem
    BCR signaling pathway
  • C-type lectin receptors (CLRs), organism-specific biosystem (from REACTOME)
    C-type lectin receptors (CLRs), organism-specific biosystemPathogen recognition is central to the induction of T cell differentiation. Groups of pathogens share similar structures known as pathogen-associated molecular patterns (PAMPs), which are recognised ...
  • CLEC7A (Dectin-1) signaling, organism-specific biosystem (from REACTOME)
    CLEC7A (Dectin-1) signaling, organism-specific biosystemCLEC7A (also known as Dectin-1) is a pattern-recognition receptor (PRR) expressed by myeloid cells (macrophages, dendritic cells and neutrophils) that detects pathogens by binding to beta-1,3-glucans...
  • CLEC7A/inflammasome pathway, organism-specific biosystem (from REACTOME)
    CLEC7A/inflammasome pathway, organism-specific biosystemAntifungal immunity through the induction of T-helper 17 cells (TH17) responses requires the production of mature, active interleukin-1beta (IL1B). CLEC7A (dectin-1) through the SYK route induces act...
  • Canonical NF-kappaB pathway, organism-specific biosystem (from Pathway Interaction Database)
    Canonical NF-kappaB pathway, organism-specific biosystem
    Canonical NF-kappaB pathway
  • Downstream TCR signaling, organism-specific biosystem (from REACTOME)
    Downstream TCR signaling, organism-specific biosystemChanges in gene expression are required for the T cell to gain full proliferative competence and to produce effector cytokines. Three transcription factors in particular have been found to play a key...
  • Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
  • FCERI mediated NF-kB activation, organism-specific biosystem (from REACTOME)
    FCERI mediated NF-kB activation, organism-specific biosystemThe increase in intracellular Ca+2 in conjunction with DAG also activates PKC and RasGRP, which inturn contributes to cytokine production by mast cells (Kambayashi et al. 2007). Activation of the FCE...
  • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • NF-kappa B signaling pathway, organism-specific biosystem (from KEGG)
    NF-kappa B signaling pathway, organism-specific biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
  • NF-kappa B signaling pathway, conserved biosystem (from KEGG)
    NF-kappa B signaling pathway, conserved biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
  • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
  • T cell receptor signaling pathway, organism-specific biosystem (from KEGG)
    T cell receptor signaling pathway, organism-specific biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
  • T cell receptor signaling pathway, conserved biosystem (from KEGG)
    T cell receptor signaling pathway, conserved biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
  • T-Cell antigen Receptor (TCR) Signaling Pathway, organism-specific biosystem (from WikiPathways)
    T-Cell antigen Receptor (TCR) Signaling Pathway, organism-specific biosystemThe T-cell antigen receptor (TCR) complex is composed of a ligand-binding subunit, the ? and ? chains, and a signaling subunit, namely the CD3?, ? and ? chains and the TCR? chain. This complex partic...
  • T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection, organism-specific biosystem (from WikiPathways)
    T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection, organism-specific biosystemThis pathway is based on Figure 4 of "A Model of an Integrated Immune System Pathway in Homo sapiens and Its Interaction with Superantigen Producing Expression Regulatory Pathway in Staphylococcus au...
  • TCR signaling, organism-specific biosystem (from REACTOME)
    TCR signaling, organism-specific biosystemThe TCR is a multisubunit complex that consists of clonotypic alpha/beta chains noncovalently associated with the invariant CD3 delta/epsilon/gamma and TCR zeta chains. T cell activation by antigen p...
  • TCR signaling in naive CD4+ T cells, organism-specific biosystem (from Pathway Interaction Database)
    TCR signaling in naive CD4+ T cells, organism-specific biosystem
    TCR signaling in naive CD4+ T cells
  • TCR signaling in naive CD8+ T cells, organism-specific biosystem (from Pathway Interaction Database)
    TCR signaling in naive CD8+ T cells, organism-specific biosystem
    TCR signaling in naive CD8+ T cells
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434L132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to kinase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protease binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein self-association IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
B cell activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
B-1 B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
T cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
T cell receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of NF-kappaB-inducing kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response NAS
Non-traceable Author Statement
more info
PubMed 
innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipopolysaccharide-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
nuclear export IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling HMP PubMed 
positive regulation of NF-kappaB transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of T cell cytokine production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of T-helper 17 cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-2 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein ubiquitination NAS
Non-traceable Author Statement
more info
PubMed 
protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
response to fungus IEA
Inferred from Electronic Annotation
more info
 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
CBM complex IDA
Inferred from Direct Assay
more info
PubMed 
CBM complex NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
mucosa-associated lymphoid tissue lymphoma translocation protein 1
Names
MALT1 protease
caspase-like protein
mucosa associated lymphoid tissue lymphoma translocation gene 1
paracaspase-1
NP_006776.1
NP_776216.1
XP_011524096.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033893.2 RefSeqGene

    Range
    5080..88092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1221

mRNA and Protein(s)

  1. NM_006785.4NP_006776.1  mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform a

    See identical proteins and their annotated locations for NP_006776.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC104365, AF316597, AK026459
    Consensus CDS
    CCDS11967.1
    UniProtKB/Swiss-Prot
    Q9UDY8
    UniProtKB/TrEMBL
    A8K5S1
    Related
    ENSP00000497997.1, ENST00000649217.2
    Conserved Domains (5) summary
    smart00410
    Location:133201
    IG_like; Immunoglobulin like
    pfam07679
    Location:233308
    I-set; Immunoglobulin I-set domain
    cd08783
    Location:42126
    Death_MALT1; Death domain similar to that found in Mucosa-associated lymphoid tissue-lymphoma-translocation gene 1
    pfam00656
    Location:343560
    Peptidase_C14; Caspase domain
    pfam13895
    Location:232308
    Ig_2; Immunoglobulin domain
  2. NM_173844.3NP_776216.1  mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform b

    See identical proteins and their annotated locations for NP_776216.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (b) lacks an internal segment, compared to isoform a.
    Source sequence(s)
    AC104365, AK291386, AL137399, BC030143
    Consensus CDS
    CCDS11968.1
    UniProtKB/Swiss-Prot
    Q9UDY8
    UniProtKB/TrEMBL
    A8K5S1
    Related
    ENSP00000304161.3, ENST00000345724.7
    Conserved Domains (5) summary
    smart00410
    Location:133201
    IG_like; Immunoglobulin like
    pfam07679
    Location:233308
    I-set; Immunoglobulin I-set domain
    cd08783
    Location:42126
    Death_MALT1; Death domain similar to that found in Mucosa-associated lymphoid tissue-lymphoma-translocation gene 1
    pfam00656
    Location:332549
    Peptidase_C14; Caspase domain
    pfam13895
    Location:232308
    Ig_2; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    58671420..58754477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525794.1XP_011524096.1  mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform X1

    Related
    ENSP00000497036.1, ENST00000650045.1
    Conserved Domains (5) summary
    smart00410
    Location:133201
    IG_like; Immunoglobulin like
    pfam07679
    Location:233308
    I-set; Immunoglobulin I-set domain
    cd08783
    Location:42126
    Death_MALT1; Death domain similar to that found in Mucosa-associated lymphoid tissue-lymphoma-translocation gene 1
    pfam00656
    Location:343412
    Peptidase_C14; Caspase domain
    pfam13895
    Location:232308
    Ig_2; Immunoglobulin domain

RNA

  1. XR_001753136.1 RNA Sequence

  2. XR_001753134.1 RNA Sequence

  3. XR_001753135.1 RNA Sequence

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