MALT1

Protein identityUniProt · HPA

UniProt accession

Q9UDY8

Gene

MALT1

Ensembl

ENSG00000172175

Chromosome

18

Canonical length

824 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoli fibrillar center,Cytosol

Quaternary structure

Homooligomer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

824 residues, UniProt reviewed canonical sequence.

>Q9UDY8|MALT1
     1  MSLLGDPLQA LPPSAAPTGP LLAPPAGATL NRLREPLLRR LSELLDQAPE GRGWRRLAEL
    61  AGSRGRLRLS CLDLEQCSLK VLEPEGSPSL CLLKLMGEKG CTVTELSDFL QAMEHTEVLQ
   121  LLSPPGIKIT VNPESKAVLA GQFVKLCCRA TGHPFVQYQW FKMNKEIPNG NTSELIFNAV
   181  HVKDAGFYVC RVNNNFTFEF SQWSQLDVCD IPESFQRSVD GVSESKLQIC VEPTSQKLMP
   241  GSTLVLQCVA VGSPIPHYQW FKNELPLTHE TKKLYMVPYV DLEHQGTYWC HVYNDRDSQD
   301  SKKVEIIIGR TDEAVECTED ELNNLGHPDN KEQTTDQPLA KDKVALLIGN MNYREHPKLK
   361  APLVDVYELT NLLRQLDFKV VSLLDLTEYE MRNAVDEFLL LLDKGVYGLL YYAGHGYENF
   421  GNSFMVPVDA PNPYRSENCL CVQNILKLMQ EKETGLNVFL LDMCRKRNDY DDTIPILDAL
   481  KVTANIVFGY ATCQGAEAFE IQHSGLANGI FMKFLKDRLL EDKKITVLLD EVAEDMGKCH
   541  LTKGKQALEI RSSLSEKRAL TDPIQGTEYS AESLVRNLQW AKAHELPESM CLKFDCGVQI
   601  QLGFAAEFSN VMIIYTSIVY KPPEIIMCDA YVTDFPLDLD IDPKDANKGT PEETGSYLVS
   661  KDLPKHCLYT RLSSLQKLKE HLVFTVCLSY QYSGLEDTVE DKQEVNVGKP LIAKLDMHRG
   721  LGRKTCFQTC LMSNGPYQSS AATSGGAGHY HSLQDPFHGV YHSHPGNPSN VTPADSCHCS
   781  RTPDAFISSF AHHASCHFSR SNVPVETTDE IPFSFSDRLR ISEK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MALT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

19 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MALT1.

Disease | AllUniProt

Conditions MALT1 is implicated in, by any mechanism.

• Immunodeficiency 12 (IMD12) MIM:615468

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 498 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined immunodeficiency due to MALT1 deficiency
• Severe combined immunodeficiency disease
• Hepatocellular carcinoma
• Uterine corpus endometrial carcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.3

gnomAD pLI

0.99

gnomAD missense Z

2.84

DepMap mean gene effect

0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• B cell activation
• B-1 B cell differentiation
• defense response
• innate immune response
• lipopolysaccharide-mediated signaling pathway
• negative regulation of apoptotic process
• nuclear export
• positive regulation of canonical NF-kappaB signal transduction
• positive regulation of interleukin-1 beta production
• positive regulation of interleukin-2 production
• positive regulation of protein ubiquitination
• positive regulation of T cell cytokine production
• positive regulation of T-helper 17 cell differentiation
• proteolysis
• proteolysis involved in protein catabolic process
• regulation of apoptotic process
• regulation of T cell receptor signaling pathway
• response to fungus
• T cell proliferation
• T cell receptor signaling pathway

Molecular functions

• cysteine-type endopeptidase activity
• endopeptidase activator activity
• endopeptidase activity
• identical protein binding
• peptidase activity
• protease binding
• small molecule binding
• ubiquitin-protein transferase activity

Cellular components

• CBM complex
• cytoplasm
• cytosol
• fibrillar center
• nucleus
• perinuclear region of cytoplasm
• polkadots
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Peptidase C14, p20 domain
• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Immunoglobulin-like domain
• Death-like domain superfamily
• Peptidase C14, caspase domain
• Immunoglobulin-like fold
• Caspase-like domain superfamily
• Immunoglobulin-like domain superfamily
• Caspase domain
• Immunoglobulin domain
• Immunoglobulin domain
• MALT1, immunoglobulin-like domain superfamily
• MALT1, death domain
• MALT1 immunoglobulin-like domain
• Caspase-related proteases and regulators
• MALT1 Ig-like domain

KeywordsUniProt

• Acetylation
• Chromosomal rearrangement
• Cytoplasm
• Disulfide bond
• Hydrolase
• Immunity
• Immunoglobulin domain
• Nucleus
• Phosphoprotein
• Protease
• Repeat
• Ubl conjugation pathway

InteractionsUniProt · HPA

Protein binding partners of MALT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BCL10
• CARD11
• CSNK1A1
• IKBKG
• SQSTM1
• TRAF6