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Aliases for MALT1 Gene

Aliases for MALT1 Gene

  • MALT1 Paracaspase 2 3 5
  • Mucosa Associated Lymphoid Tissue Lymphoma Translocation Gene 1 2 3
  • MALT Lymphoma-Associated Translocation 3 4
  • MALT1 Protease 2 3
  • Paracaspase 3 4
  • MLT 3 4
  • Mucosa-Associated Lymphoid Tissue Lymphoma Translocation Protein 1 3
  • Caspase-Like Protein 3
  • Paracaspase 1 2
  • Paracaspase-1 3
  • EC 3.4.22.- 4
  • PCASP1 3
  • IMD12 3
  • Mlt1 3

External Ids for MALT1 Gene

Previous HGNC Symbols for MALT1 Gene

  • MLT

Previous GeneCards Identifiers for MALT1 Gene

  • GC18P056267
  • GC18P056123
  • GC18P054487
  • GC18P054489
  • GC18P056339
  • GC18P053046

Summaries for MALT1 Gene

Entrez Gene Summary for MALT1 Gene

  • This gene has been found to be recurrently rearranged in chromosomal translocation with two other genes - baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) and immunoglobulin heavy chain locus - in mucosa-associated lymphoid tissue lymphomas. The protein encoded by this gene may play a role in NF-kappaB activation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MALT1 Gene

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 CLEC7A (Dectin-1) signaling and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and peptidase activity.

UniProtKB/Swiss-Prot for MALT1 Gene

  • Enhances BCL10-induced activation of NF-kappa-B. Involved in nuclear export of BCL10. Binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity. Has ubiquitin ligase activity. MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion.

Tocris Summary for MALT1 Gene

  • 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.

Gene Wiki entry for MALT1 Gene

Additional gene information for MALT1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MALT1 Gene

Genomics for MALT1 Gene

GeneHancer (GH) Regulatory Elements for MALT1 Gene

Promoters and enhancers for MALT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I058667 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 578.1 -1.1 -1149 5.8 FOXA2 ZFP64 ARID4B SIN3A YY1 GLIS2 ZNF207 RUNX3 SP3 RXRA MALT1 LOC101927322 SNORA108 LOC102724745 ENSG00000267476 LOC105372146
GH18I058575 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.7 -92.5 -92517 6.7 FOXA2 ZNF133 SIN3A FEZF1 RAD21 RARA ETS1 YY1 ZNF335 FOS MALT1 SNORA108 ALPK2 LOC105372145
GH18I058614 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.1 -55.8 -55808 2.4 PKNOX1 EBF1 BATF IRF4 RELA ZNF121 NFATC1 ATF7 ETV6 BCLAF1 ALPK2 MALT1 SNORA108
GH18I058524 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.1 -144.0 -144020 4.8 ELF3 FOXA2 ARID4B SIN3A IRF4 ZNF48 ZSCAN9 RAD21 SLC30A9 ETV6 MALT1 SNORA108 MIR122 MIR3591 ENSG00000199713 ENSG00000267257 NEDD4L ENSG00000274354 ALPK2
GH18I058564 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 21.3 -106.0 -106020 0.9 ZNF687 BACH1 EBF1 ELF1 DPF2 ATF2 IRF4 ZNF592 ZNF217 ZNF366 MALT1 SNORA108 LOC105372145 ALPK2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MALT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MALT1 gene promoter:

Genomic Locations for MALT1 Gene

Genomic Locations for MALT1 Gene
chr18:58,671,386-58,754,477
(GRCh38/hg38)
Size:
83,092 bases
Orientation:
Plus strand
chr18:56,338,618-56,417,371
(GRCh37/hg19)

Genomic View for MALT1 Gene

Genes around MALT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MALT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MALT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MALT1 Gene

Proteins for MALT1 Gene

  • Protein details for MALT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UDY8-MALT1_HUMAN
    Recommended name:
    Mucosa-associated lymphoid tissue lymphoma translocation protein 1
    Protein Accession:
    Q9UDY8
    Secondary Accessions:
    • Q9NTB7
    • Q9ULX4

    Protein attributes for MALT1 Gene

    Size:
    824 amino acids
    Molecular mass:
    92272 Da
    Quaternary structure:
    • Binds through its Ig-like domains to BCL10. Forms oligomers which bind to TRAF6 (PubMed:15125833). Forms a complex with CARD14 and BCL10; resulting in the formation of a CBM (CARD14-BCL10-MALT1) complex (PubMed:27113748). Interacts with BCL10; as part of a CBM (CARD11-BCL10-MALT1) complex involved in NF-kappa-B activation (PubMed:28628108).

    Three dimensional structures from OCA and Proteopedia for MALT1 Gene

    Alternative splice isoforms for MALT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MALT1 Gene

Post-translational modifications for MALT1 Gene

No Post-translational modifications

Other Protein References for MALT1 Gene

No data available for DME Specific Peptides for MALT1 Gene

Domains & Families for MALT1 Gene

Gene Families for MALT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MALT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UDY8

UniProtKB/Swiss-Prot:

MALT1_HUMAN :
  • Belongs to the peptidase C14B family.
Family:
  • Belongs to the peptidase C14B family.
genes like me logo Genes that share domains with MALT1: view

Function for MALT1 Gene

Molecular function for MALT1 Gene

GENATLAS Biochemistry:
mucosa associated lymphoid tissue rearranged with API2 in the t(11;18)(q21;q21) in extranodal marginal zone B-cell lymphomas,in low-grade B cell lymphoma of mucosa associated lymphoid tissue
UniProtKB/Swiss-Prot Function:
Enhances BCL10-induced activation of NF-kappa-B. Involved in nuclear export of BCL10. Binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity. Has ubiquitin ligase activity. MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion.

Enzyme Numbers (IUBMB) for MALT1 Gene

Phenotypes From GWAS Catalog for MALT1 Gene

Gene Ontology (GO) - Molecular Function for MALT1 Gene

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:0004871 signal transducer activity IMP,HMP 12761501
GO:0005515 protein binding IPI 14695475
genes like me logo Genes that share ontologies with MALT1: view
genes like me logo Genes that share phenotypes with MALT1: view

Human Phenotype Ontology for MALT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MALT1 Gene

MGI Knock Outs for MALT1:

Clone Products

  • Addgene plasmids for MALT1

No data available for Transcription Factor Targets and HOMER Transcription for MALT1 Gene

Localization for MALT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MALT1 Gene

Cytoplasm, perinuclear region. Nucleus. Note=Shuttles between the nucleus and cytoplasm. Found in perinuclear structures together with BCL10.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MALT1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 1
mitochondrion 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA,IDA 16123224
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA,IEA 16123224
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with MALT1: view

Pathways & Interactions for MALT1 Gene

genes like me logo Genes that share pathways with MALT1: view

SIGNOR curated interactions for MALT1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MALT1 Gene

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:0002237 response to molecule of bacterial origin IEA --
GO:0002726 positive regulation of T cell cytokine production IMP 15125833
GO:0006508 proteolysis IDA,IEA 18223652
genes like me logo Genes that share ontologies with MALT1: view

Drugs & Compounds for MALT1 Gene

(1) Drugs for MALT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for MALT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MALT1: view

Transcripts for MALT1 Gene

Unigene Clusters for MALT1 Gene

Mucosa associated lymphoid tissue lymphoma translocation gene 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for MALT1

Alternative Splicing Database (ASD) splice patterns (SP) for MALT1 Gene

No ASD Table

Relevant External Links for MALT1 Gene

GeneLoc Exon Structure for
MALT1
ECgene alternative splicing isoforms for
MALT1

Expression for MALT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MALT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MALT1 Gene

This gene is overexpressed in Lymph node (15.8), Breast (14.1), Blymphocyte (8.2), Peripheral blood mononuclear cells (7.6), and Lung (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MALT1 Gene



Protein tissue co-expression partners for MALT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MALT1 Gene:

MALT1

SOURCE GeneReport for Unigene cluster for MALT1 Gene:

Hs.601217

mRNA Expression by UniProt/SwissProt for MALT1 Gene:

Q9UDY8-MALT1_HUMAN
Tissue specificity: Highly expressed in peripheral blood mononuclear cells. Detected at lower levels in bone marrow, thymus and lymph node, and at very low levels in colon and lung.

Evidence on tissue expression from TISSUES for MALT1 Gene

  • Kidney(4.2)
  • Blood(2.7)
  • Lymph node(2.4)
  • Stomach(2.4)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MALT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
Organs:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
  • lung
Abdomen:
  • intestine
  • large intestine
  • stomach
Pelvis:
  • rectum
General:
  • blood
  • bone marrow
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with MALT1: view

No data available for mRNA differential expression in normal tissues for MALT1 Gene

Orthologs for MALT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MALT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MALT1 33 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia MALT1 33 34
  • 88.43 (n)
cow
(Bos Taurus)
Mammalia MALT1 33 34
  • 86.37 (n)
mouse
(Mus musculus)
Mammalia Malt1 33 16 34
  • 86.15 (n)
rat
(Rattus norvegicus)
Mammalia Malt1 33
  • 84.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MALT1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC426852 33
  • 71.73 (n)
MALT1 34
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MALT1 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia malt1 33
  • 64.1 (n)
zebrafish
(Danio rerio)
Actinopterygii malt1b 33 34
  • 61.1 (n)
malt1 33
worm
(Caenorhabditis elegans)
Secernentea F22D3.6 35 33 34
  • 46.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1584 34
  • 24 (a)
OneToOne
Species where no ortholog for MALT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MALT1 Gene

ENSEMBL:
Gene Tree for MALT1 (if available)
TreeFam:
Gene Tree for MALT1 (if available)

Paralogs for MALT1 Gene

No data available for Paralogs for MALT1 Gene

Variants for MALT1 Gene

Sequence variations from dbSNP and Humsavar for MALT1 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs149988025 uncertain-significance, Immunodeficiency 12 58,709,405(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs200919386 likely-benign, Immunodeficiency 12 58,700,600(+) C/T intron_variant
rs35533328 likely-benign, Immunodeficiency 12 58,745,675(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs35575273 benign, Immunodeficiency 12 58,733,473(+) A/T 3_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs398123058 pathogenic, Immunodeficiency 12, Immunodeficiency 12 (IMD12) [MIM:615468] 58,681,226(+) G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MALT1 Gene

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

Variation tolerance for MALT1 Gene

Residual Variation Intolerance Score: 42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 40.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MALT1 Gene

Human Gene Mutation Database (HGMD)
MALT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MALT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MALT1 Gene

Disorders for MALT1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for MALT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 12
  • imd12
lymphoma, mucosa-associated lymphoid type
  • malt lymphoma
lymphoma
  • lymphoid cancer
b-cell lymphomas
  • b-cell lymphoma
marginal zone b-cell lymphoma
  • marginal zone lymphoma
- elite association - COSMIC cancer census association via MalaCards
Search MALT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MALT1_HUMAN
  • 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 mutations affecting the gene represented in this entry.
  • 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}.

Additional Disease Information for MALT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MALT1: view

No data available for Genatlas for MALT1 Gene

Publications for MALT1 Gene

  1. Identification of paracaspases and metacaspases: two ancient families of caspase-like proteins, one of which plays a key role in MALT lymphoma. (PMID: 11090634) Uren AG … Dixit VM (Molecular cell 2000) 2 3 4 22 58
  2. The apoptosis inhibitor gene API2 and a novel 18q gene, MLT, are recurrently rearranged in the t(11;18)(q21;q21) associated with mucosa-associated lymphoid tissue lymphomas. (PMID: 10339464) Dierlamm J … Marynen P (Blood 1999) 2 3 4 22 58
  3. A novel gene, MALT1 at 18q21, is involved in t(11;18) (q21;q21) found in low-grade B-cell lymphoma of mucosa-associated lymphoid tissue. (PMID: 10523859) Akagi T … Seto M (Oncogene 1999) 2 3 4 22 58
  4. Germline variations of the MALT1 gene as risk factors in the development of primary gastric B-cell lymphoma. (PMID: 19394813) Hellmig S … Schreiber S (European journal of cancer (Oxford, England : 1990) 2009) 3 22 44 58
  5. MALT1 contains nuclear export signals and regulates cytoplasmic localization of BCL10. (PMID: 16123224) Nakagawa M … Seto M (Blood 2005) 3 4 22 58

Products for MALT1 Gene

Sources for MALT1 Gene

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