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    MALT1 MALT1 paracaspase [ Homo sapiens (human) ]

    Gene ID: 10892, updated on 3-Dec-2024

    Summary

    Official Symbol
    MALT1provided by HGNC
    Official Full Name
    MALT1 paracaspaseprovided by HGNC
    Primary source
    HGNC:HGNC:6819
    See related
    Ensembl:ENSG00000172175 MIM:604860; AllianceGenome:HGNC:6819
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MALT1 in Genome Data Viewer
    Location:
    18q21.32
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (58671465..58754477)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (58872604..58955588)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (56338697..56421709)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13399 Neighboring gene ribosomal protein L9 pseudogene 31 Neighboring gene long intergenic non-protein coding RNA 3110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9487 Neighboring gene uncharacterized LOC105372146 Neighboring gene MALT1 antisense RNA 1 Neighboring gene mitochondrial ribosomal protein L37 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13403 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:56442191-56442692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:56449282-56450044 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:56450045-56450806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:56456348-56457153 Neighboring gene VISTA enhancer hs1397 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:56475059-56476049 Neighboring gene RNA, U6 small nuclear 219, pseudogene Neighboring gene U8 small nucleolar RNA 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Combined immunodeficiency due to MALT1 deficiency
    MedGen: C3809583 OMIM: 615468 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 small molecule binding EXP
    Inferred from Experiment
    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
     
    involved_in B-1 B cell differentiation IEA
    Inferred from Electronic Annotation
    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
     
    involved_in T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    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
     
    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 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 canonical NF-kappaB signal transduction HMP PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    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 proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis involved in 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
     
    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
    XP_054174133.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Q9NTB7, Q9UDY8, Q9ULX4
      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/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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      58671465..58754477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525794.2XP_011524096.1  mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IS32
      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_007066087.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      58872604..58955588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318158.1XP_054174133.1  mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IS32

    RNA

    1. XR_008484983.1 RNA Sequence