MALT1
entrez
10892
canonical
uniprot
Q9UDY8
canonical
ensembl
ENSG00000172175
resolver
ensp
ENSP00000304161
resolver
ensp
ENSP00000497997
resolver
ensp
ENSP00000666686
resolver
genesymbol
MALT1
resolver
genesymbol_syn
MLT
resolver
hgnc
HGNC:6819
resolver
uniprot
A8K5S1
resolver
uniprot
Q9NTB7
resolver
uniprot
Q9ULX4
resolver
uniprot_entry
A8K5S1_HUMAN
resolver
uniprot_entry
MALT1_HUMAN
resolver
uniprot_sec
Q9NTB7
resolver
uniprot_sec
Q9ULX4
resolver
amino_acid_sequence
MSLLGDPLQALPPSAAPTGPLLAPPAGATLNRLREPLLRRLSELLDQAPEGRGWRRLAELAGSRGRLRLSCLDLEQCSLKVLEPEGSPSLCLLKLMGEKGCTVTELSDFLQAMEHTEVLQLLSPPGIKITVNPESKAVLAGQFVKLCCRATGHPFVQYQWFKMNKEIPNGNTSELIFNAVHVKDAGFYVCRVNNNFTFEFSQWSQLDVCDIPESFQRSVDGVSESKLQICVEPTSQKLMPGSTLVLQCVAVGSPIPHYQWFKNELPLTHETKKLYMVPYVDLEHQGTYWCHVYNDRDSQDSKKVEIIIGRTDEAVECTEDELNNLGHPDNKEQTTDQPLAKDKVALLIGNMNYREHPKLKAPLVDVYELTNLLRQLDFKVVSLLDLTEYEMRNAVDEFLLLLDKGVYGLLYYAGHGYENFGNSFMVPVDAPNPYRSENCLCVQNILKLMQEKETGLNVFLLDMCRKRNDYDDTIPILDALKVTANIVFGYATCQGAEAFEIQHSGLANGIFMKFLKDRLLEDKKITVLLDEVAEDMGKCHLTKGKQALEIRSSLSEKRALTDPIQGTEYSAESLVRNLQWAKAHELPESMCLKFDCGVQIQLGFAAEFSNVMIIYTSIVYKPPEIIMCDAYVTDFPLDLDIDPKDANKGTPEETGSYLVSKDLPKHCLYTRLSSLQKLKEHLVFTVCLSYQYSGLEDTVEDKQEVNVGKPLIAKLDMHRGLGRKTCFQTCLMSNGPYQSSAATSGGAGHYHSLQDPFHGVYHSHPGNPSNVTPADSCHCSRTPDAFISSFAHHASCHFSRSNVPVETTDEIPFSFSDRLRISEK
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 12 (IMD12) [MIM:615468]: A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens. {ECO:0000269|PubMed:23727036}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving MALT1 is recurrent in low-grade mucosa-associated lymphoid tissue (MALT lymphoma). Translocation t(11;18)(q21;q21) with BIRC2. This translocation is found in approximately 50% of cytogenetically abnormal low-grade MALT lymphoma. {ECO:0000269|PubMed:10339464, ECO:0000269|PubMed:10523859, ECO:0000269|PubMed:10702396, ECO:0000269|PubMed:11090634}.
uniprot
proteins
ec_number
3.4.22.-
uniprot
proteins
function
FUNCTION: Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signaling downstream of CARD domain-containing proteins (CARD9, CARD11 and CARD14) to activate NF-kappa-B and MAP kinase p38 pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (PubMed:11262391, PubMed:18264101, PubMed:24074955). Mediates BCL10 cleavage: MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion (PubMed:11262391, PubMed:18264101). Involved in the induction of T helper 17 cells (Th17) differentiation (PubMed:11262391, PubMed:18264101). Cleaves RC3H1 and ZC3H12A in response to T-cell receptor (TCR) stimulation which releases their cooperatively repressed targets to promote Th17 cell differentiation (By similarity). Also mediates cleavage of N4BP1 in T-cells following TCR-mediated activation, leading to N4BP1 inactivation (PubMed:31133753). May also have ubiquitin ligase activity: binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity (PubMed:14695475). {ECO:0000250|UniProtKB:Q2TBA3, ECO:0000269|PubMed:11262391, ECO:0000269|PubMed:14695475, ECO:0000269|PubMed:18264101, ECO:0000269|PubMed:24074955, ECO:0000269|PubMed:31133753}.
uniprot
proteins
mass_dalton
92272
uniprot
proteins
mutagenesis
MUTAGEN 464; /note="C->A: Slight decrease in NF-kappa-B activation."; /evidence="ECO:0000269|PubMed:11262391"; MUTAGEN 653; /note="E->A: Abolishes binding to TRAF6."; /evidence="ECO:0000269|PubMed:15125833"; MUTAGEN 806; /note="E->A: Abolishes binding to TRAF6."; /evidence="ECO:0000269|PubMed:15125833
uniprot
proteins
protein_family
Peptidase C14B family
uniprot
proteins
pubmed
10339464
uniprot
proteins
pubmed
10523859
uniprot
proteins
pubmed
10610122
uniprot
proteins
pubmed
10702396
uniprot
proteins
pubmed
11090634
uniprot
proteins
pubmed
11262391
uniprot
proteins
pubmed
14695475
uniprot
proteins
pubmed
15125833
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16123224
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18264101
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23727036
uniprot
proteins
pubmed
24074955
uniprot
proteins
pubmed
27113748
uniprot
proteins
pubmed
28628108
uniprot
proteins
pubmed
31133753
uniprot
proteins
sequence_length
824
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:16123224}. Nucleus {ECO:0000269|PubMed:16123224}. Note=Shuttles between the nucleus and cytoplasm. Found in perinuclear structures together with BCL10. {ECO:0000269|PubMed:16123224}.
uniprot
proteins