MALT1 MALT1 paracaspase [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Blood MALT1 reflects acute exacerbation risk and inflammation in elderly chronic obstructive pulmonary disease patients.
Title: Blood MALT1 reflects acute exacerbation risk and inflammation in elderly chronic obstructive pulmonary disease patients.
The paracaspase MALT1 in psoriasis.
Title: The paracaspase MALT1 in psoriasis.
Profiling the activity of the para-caspase MALT1 in B-cell acute lymphoblastic leukemia for potential targeted therapeutic application.
Title: Profiling the activity of the para-caspase MALT1 in B-cell acute lymphoblastic leukemia for potential targeted therapeutic application.
Inhibition of the MALT1-LPCAT3 axis protects cartilage degeneration and osteoarthritis.
Title: Inhibition of the MALT1-LPCAT3 axis protects cartilage degeneration and osteoarthritis.
Long-term monitoring of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene.
Title: Long-term monitoring of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene.
The paracaspase MALT1 controls cholesterol homeostasis in glioblastoma stem-like cells through lysosome proteome shaping.
Title: The paracaspase MALT1 controls cholesterol homeostasis in glioblastoma stem-like cells through lysosome proteome shaping.
Oncogene-induced MALT1 protease activity drives posttranscriptional gene expression in malignant lymphomas.
Title: Oncogene-induced MALT1 protease activity drives posttranscriptional gene expression in malignant lymphomas.
Regulatory roles of CARD9-BCL10-Rac1 (CBR) signalome in islet beta-cell function in health and metabolic stress: Is there room for MALT1?
Title: Regulatory roles of CARD9-BCL10-Rac1 (CBR) signalome in islet β-cell function in health and metabolic stress: Is there room for MALT1?
Linkage of Blood MALT1 with CD4+ T Cell Subset, Inflammation, Lipid, and Its Potency as a Biomarker for Predicting Major Adverse Cardiovascular Events in Coronary Heart Disease Patients.
Title: Linkage of Blood MALT1 with CD4+ T Cell Subset, Inflammation, Lipid, and Its Potency as a Biomarker for Predicting Major Adverse Cardiovascular Events in Coronary Heart Disease Patients.
Function and targeting of MALT1 paracaspase in cancer.
Title: Function and targeting of MALT1 paracaspase in cancer.

Submit: New GeneRIF Correction See all GeneRIFs (163)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-84595 (e-PCR)
- UniSTS:102923

RH93611 (e-PCR)
- UniSTS:87424

RH68024 (e-PCR)
- UniSTS:57263

RH79985 (e-PCR)
- UniSTS:84699

MALT1_3779 (e-PCR)
- UniSTS:462327

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 more info	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

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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

EC 3.4.22.-

NP_776216.1

EC 3.4.22.-

XP_011524096.1

EC 3.4.22.-

XP_054174133.1

EC 3.4.22.-

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

NG_033893.2 RefSeqGene

Range

5080..88092

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1221

mRNA and Protein(s)

NM_006785.4 → NP_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:133 → 201

IG_like; Immunoglobulin like

pfam07679
Location:233 → 308

I-set; Immunoglobulin I-set domain

cd08783
Location:42 → 126

Death_MALT1; Death domain similar to that found in Mucosa-associated lymphoid tissue-lymphoma-translocation gene 1

pfam00656
Location:343 → 560

Peptidase_C14; Caspase domain

pfam13895
Location:232 → 308

Ig_2; Immunoglobulin domain
NM_173844.3 → NP_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:133 → 201

IG_like; Immunoglobulin like

pfam07679
Location:233 → 308

I-set; Immunoglobulin I-set domain

cd08783
Location:42 → 126

Death_MALT1; Death domain similar to that found in Mucosa-associated lymphoid tissue-lymphoma-translocation gene 1

pfam00656
Location:332 → 549

Peptidase_C14; Caspase domain

pfam13895
Location:232 → 308

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

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

58671465..58754477

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011525794.2 → XP_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:133 → 201

IG_like; Immunoglobulin like

pfam07679
Location:233 → 308

I-set; Immunoglobulin I-set domain

cd08783
Location:42 → 126

Death_MALT1; Death domain similar to that found in Mucosa-associated lymphoid tissue-lymphoma-translocation gene 1

pfam00656
Location:343 → 412

Peptidase_C14; Caspase domain

pfam13895
Location:232 → 308

Ig_2; Immunoglobulin domain