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MALT1 MALT1 paracaspase [ Homo sapiens (human) ]

Gene ID: 10892, updated on 11-Jun-2021

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
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Genomic context

See MALT1 in Genome Data Viewer
Location:
18q21.32
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (58671420..58754477)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (56338697..56421709)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L9 pseudogene 31 Neighboring gene uncharacterized LOC102724745 Neighboring gene uncharacterized LOC105372146 Neighboring gene MALT1 antisense RNA 1 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Immunodeficiency 12
MedGen: C3809583 OMIM: 615468 GeneReviews: Not available
Compare labs

Pathways from PubChem

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

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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 Updated Annotation Release 109.20210514

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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