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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]
MALT1 (MALT1 Paracaspase) is a Protein Coding gene. Diseases associated with MALT1 include Immunodeficiency 12 and Lymphoma, Mucosa-Associated Lymphoid Type. Among its related pathways are B cell receptor signaling pathway (KEGG) and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and peptidase activity.
Aminopeptidases catalyze the removal of amino acids from the amino terminus of proteins and peptides. They express different substrate specificities - for example, leucyl aminopeptidase preferentially cleaves leucine residues.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IEA | -- |
GO:0004197 | cysteine-type endopeptidase activity | IEA,NAS | 11090634 |
GO:0004842 | ubiquitin-protein transferase activity | IDA | 14695475 |
GO:0005515 | protein binding | IPI | 15125833 |
GO:0008233 | peptidase activity | IDA | 18223652 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001650 | fibrillar center | IDA | -- |
GO:0002096 | polkadots | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 16123224 |
GO:0005737 | cytoplasm | IEA,IDA | 16123224 |
GO:0005829 | cytosol | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | B cell receptor signaling pathway (KEGG) | ||
2 | T cell receptor signaling pathway | ||
3 | CLEC7A (Dectin-1) signaling | ||
4 | C-type lectin receptor signaling pathway | ||
5 | B Cell Receptor Signaling Pathway (sino) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001923 | B-1 B cell differentiation | IEA | -- |
GO:0002223 | stimulatory C-type lectin receptor signaling pathway | TAS | -- |
GO:0002726 | positive regulation of T cell cytokine production | IMP | 15125833 |
GO:0006508 | proteolysis | IEA,IDA | 18223652 |
GO:0006952 | defense response | NAS | 10523859 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MALT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MALT1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MALT1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Malt1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Malt1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | MALT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC426852 30 |
|
||
MALT1 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | MALT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | malt1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | malt1b 30 31 |
|
OneToOne | |
malt1 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | F22D3.6 30 31 32 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1584 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636343 | Pathogenic/Likely Pathogenic: Immunodeficiency 12; not provided | 58,700,513(+) | C/T | NONSENSE | |
636467 | Uncertain Significance: Immunodeficiency 12; not provided | 58,747,802(+) | C/T | MISSENSE_VARIANT | |
636845 | Uncertain Significance: Immunodeficiency 12; not provided | 58,671,749(+) | C/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
641152 | Uncertain Significance: Immunodeficiency 12 | 58,747,716(+) | A/AGATGCATTTATTT | INFRAME_INSERTION | |
643896 | Uncertain Significance: Immunodeficiency 12 | 58,747,452(+) | G/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2447858 | CNV | deletion | 19546169 |
esv3583096 | CNV | loss | 25503493 |
esv3583097 | CNV | loss | 25503493 |
nsv1126485 | CNV | deletion | 24896259 |
nsv519742 | CNV | loss | 19592680 |
nsv524760 | CNV | loss | 19592680 |
nsv577050 | CNV | loss | 21841781 |
nsv819829 | CNV | loss | 19587683 |
nsv820257 | CNV | loss | 19587683 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency 12 |
|
|
lymphoma, mucosa-associated lymphoid type |
|
|
lymphoma |
|
|
mastoiditis |
|
|
marginal zone b-cell lymphoma |
|
|