MALT1

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]

Description

MALT1 paracaspase

Tissue specificity

Low tissue specificity

Subcell location

Nucleoli fibrillar center, Cytosol

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

18 (58671465 - 58754477)

Ensembl ID

ENSG00000172175  (ver. 103.38)

Orthologs

Mouse Malt1: ENSMUSG00000032688

UniProt

Q9UDY8

neXtProt

NX_Q9UDY8

Human splice variants
Mouse splice variants

Protein structure