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MALT1 MALT1 paracaspase [ Homo sapiens (human) ]

Gene ID: 10892, updated on 8-Feb-2015
Official Symbol
MALT1provided by HGNC
Official Full Name
MALT1 paracaspaseprovided by HGNC
Primary source
HGNC:HGNC:6819
See related
Ensembl:ENSG00000172175; HPRD:06892; MIM:604860; Vega:OTTHUMG00000132761
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
Summary
This gene has been found to be recurrently rearranged in chromosomal translocation with two other genes - baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) and immunoglobulin heavy chain locus - in mucosa-associated lymphoid tissue lymphomas. The protein encoded by this gene may play a role in NF-kappaB activation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Orthologs
See MALT1 in MapViewer
Location:
18q21
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 18 NC_000018.10 (58671386..58750139)
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 uncharacterized LOC102724745 Neighboring gene ribosomal protein L9 pseudogene 31 Neighboring gene uncharacterized LOC101927322 Neighboring gene mitochondrial ribosomal protein L37 pseudogene 1 Neighboring gene zinc finger protein 532 Neighboring gene O-acyltransferase like, pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Immunodeficiency 12
MedGen: CN180192 OMIM: 615468 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
  • 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 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
  • 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...
  • 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...
  • TCR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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 
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 
signal transducer activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
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 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 TAS
Traceable Author Statement
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of T cell activation IC
Inferred by Curator
more info
PubMed 
positive regulation of T cell cytokine 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 oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
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
 
response to molecule of bacterial origin IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
CBM complex NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
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
 
plasma membrane TAS
Traceable Author Statement
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
mucosa-associated lymphoid tissue lymphoma translocation protein 1
Names
mucosa-associated lymphoid tissue lymphoma translocation protein 1
MALT lymphoma-associated translocation
MALT1 protease
caspase-like protein
mucosa associated lymphoid tissue lymphoma translocation gene 1
paracaspase
NP_006776.1
NP_776216.1

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_033893.1 RefSeqGene

    Range
    5001..83754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006785.3NP_006776.1  mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform a

    See proteins identical to NP_006776.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AF130356, AF316597, AK291386, AL137399
    Consensus CDS
    CCDS11967.1
    UniProtKB/TrEMBL
    A8K5S1
    UniProtKB/Swiss-Prot
    Q9UDY8
    Related
    ENSP00000319279, OTTHUMP00000163647, ENST00000348428, OTTHUMT00000256132
    Conserved Domains (5) summary
    cd00096
    Location:144195
    Ig; Immunoglobulin domain
    smart00408
    Location:240294
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:133201
    IG_like; Immunoglobulin like
    pfam00656
    Location:343560
    Peptidase_C14; Caspase domain
    cd08783
    Location:42126
    Death_MALT1; Death domain similar to that found in Mucosa-associated lymphoid tissue-lymphoma-translocation gene 1
  2. NM_173844.2NP_776216.1  mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform b

    See proteins identical to 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)
    AF316597, AK291386, AL137399, BC030143
    Consensus CDS
    CCDS11968.1
    UniProtKB/TrEMBL
    A8K5S1
    UniProtKB/Swiss-Prot
    Q9UDY8
    Conserved Domains (5) summary
    cd00096
    Location:144195
    Ig; Immunoglobulin domain
    smart00408
    Location:240294
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:133201
    IG_like; Immunoglobulin like
    pfam00656
    Location:332549
    Peptidase_C14; Caspase domain
    cd08783
    Location:42126
    Death_MALT1; Death domain similar to that found in Mucosa-associated lymphoid tissue-lymphoma-translocation gene 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38 Primary Assembly

    Range
    58671386..58750139
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266644.1XP_005266701.1  

    Conserved Domains (5) summary
    cd00096
    Location:144195
    Ig; Immunoglobulin domain
    smart00408
    Location:240294
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:133201
    IG_like; Immunoglobulin like
    pfam00656
    Location:343465
    Peptidase_C14; Caspase domain
    cd08783
    Location:42126
    Death_MALT1; Death domain similar to that found in Mucosa-associated lymphoid tissue-lymphoma-translocation gene 1

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 Alternate CHM1_1.1

    Range
    56333855..56412584
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000150.1 Alternate HuRef

    Range
    53046774..53125499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)