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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 re... See more...
Aliases for MALT1 Gene
Aliases for MALT1 Gene
External Ids for MALT1 Gene
- HGNC: 6819
- Entrez Gene: 10892
- Ensembl: ENSG00000172175
- OMIM: 604860
- UniProtKB: Q9UDY8
Previous HGNC Symbols for MALT1 Gene
- MLT
Previous GeneCards Identifiers for MALT1 Gene
- GC18P056267
- GC18P056123
- GC18P054487
- GC18P054489
- GC18P056339
- GC18P053046
Summaries for MALT1 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]
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 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.
UniProtKB/Swiss-Prot Summary 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. Involved in the induction of T helper 17 cells (Th17) differentiation. 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).
-
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.
Additional gene information for MALT1 Gene
- HGNC(6819)
- Entrez Gene(10892)
- Ensembl(ENSG00000172175)
- OMIM(604860)
- UniProtKB(Q9UDY8)
- Open Targets Platform(ENSG00000172175)
- Monarch Initiative
- Search for MALT1 at DataMed
- Search for MALT1 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MALT1 Gene
Genomics for MALT1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MALT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MALT1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MALT1
- Top Transcription factor binding sites by QIAGEN in the MALT1 gene promoter:
-
- aMEF-2
- ATF-2
- c-Ets-1
- GATA-1
- MEF-2
- MEF-2A
- Olf-1
- Pax-4a
- POU2F1
- POU2F1a
Genomic Locations for MALT1 Gene
Genomic Locations for MALT1 Gene
- chr18:58,671,420-58,754,477
- (GRCh38/hg38)
- Size:
- 83,058 bases
- Orientation:
- Plus strand
- chr18:56,338,618-56,417,371
- (GRCh37/hg19)
- Size:
- 78,754 bases
- Orientation:
- Plus strand
Genomic View for MALT1 Gene
Genes around MALT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q21.32 by HGNC
- 18q21.32 by Entrez Gene
- 18q21.32 by Ensembl
MALT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for MALT1 Gene
Post-translational modifications for MALT1 Gene
Other Protein References for MALT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ MALT1 Antibody
- NSJ Bioreagents MALT1 Antibody (Mouse Monoclonal)
-
Custom Antibody ServicesOriGene Antibodies for MALT1
- AM50100PU-S
- AM50100PU-T
- AP08456PU-N
- AP20552PU-N
- CF807308
- CF807310
- CF807311
- CF807320
- CF807321
- CF807322
- CF807326
- CF807327
- CF807328
- TA308644
- TA320420
- TA321789
- TA349149
- TA807308
- TA807308S
- TA807310
- TA807310S
- TA807311
- TA807311S
- TA807320
- TA807320S
- TA807321
- TA807321S
- TA807322
- TA807322S
- TA807326
- TA807326S
- TA807327
- TA807327S
- TA807328
- TA807328S
- Novus Biologicals Antibodies for MALT1
-
Abcam antibodies for MALT1
- Invitrogen Antibodies for MALT1 (AFLGC-MALT1)
- antibodies-online: Show 28 available MALT1 Antibodies ranked by validation data
- Compare Top MALT1 Antibodies
-
Recommended
- 155 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 10 IHC (p) Antibodies (anti-human)
- 7 IHC Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 1 Func Antibody (anti-human)
- 1 IF Antibody (anti-human)
- 36 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 30 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for MALT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for MALT1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for MALT1
- Origene Custom Protein Services for MALT1
-
Abcam proteins for MALT1
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
Protein Domains for MALT1 Gene
- InterPro:
- Blocks:
-
- Immunoglobulin C-2 type
- Caspase-1, p20
- ProtoNet:
Suggested Antigen Peptide Sequences for MALT1 Gene
- GenScript: Design optimal peptide antigens:
-
- Paracaspase (MALT1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UDY8- Family:
-
- Belongs to the peptidase C14B family.
Function for MALT1 Gene
Molecular function for MALT1 Gene
- 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. Involved in the induction of T helper 17 cells (Th17) differentiation. 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).
- 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
Enzyme Numbers (IUBMB) for MALT1 Gene
Phenotypes From GWAS Catalog 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:0005515 | protein binding | IPI | 15125833 |
| GO:0008233 | peptidase activity | IDA | 18223652 |
Phenotypes for MALT1 Gene
- MGI mutant phenotypes for MALT1:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for MALT1:
Animal Model Products
-
Taconic Biosciences Mouse Models for MALT1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MALT1 - Select products 50% OFF >
- * MALT1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MALT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MALT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MALT1
miRNA for MALT1 Gene
- miRTarBase miRNAs that target MALT1
-
- hsa-miR-21-5p (MIRT030793)
- hsa-miR-142-3p (MIRT488793)
- hsa-miR-6073 (MIRT488794)
- hsa-miR-548au-3p (MIRT488795)
- hsa-miR-3148 (MIRT488796)
- hsa-miR-6124 (MIRT488797)
- hsa-miR-605-3p (MIRT488798)
- hsa-miR-6849-5p (MIRT488799)
- hsa-miR-3681-5p (MIRT488800)
- hsa-miR-449c-5p (MIRT488801)
- hsa-miR-34b-5p (MIRT488802)
- hsa-miR-2682-5p (MIRT488803)
- hsa-miR-429 (MIRT488804)
- hsa-miR-200c-3p (MIRT488805)
- hsa-miR-200b-3p (MIRT488806)
- hsa-miR-3714 (MIRT488807)
- hsa-miR-4762-3p (MIRT529413)
- hsa-miR-3192-3p (MIRT529414)
- hsa-miR-4777-3p (MIRT529415)
- hsa-miR-668-3p (MIRT529416)
- hsa-miR-875-5p (MIRT529417)
- hsa-miR-200a-3p (MIRT529418)
- hsa-miR-141-3p (MIRT529419)
- hsa-miR-96-5p (MIRT529420)
- hsa-miR-1271-5p (MIRT529421)
- hsa-miR-182-5p (MIRT529422)
- hsa-miR-7150 (MIRT529423)
- hsa-miR-548aw (MIRT529424)
- hsa-miR-4473 (MIRT529425)
- hsa-miR-4671-3p (MIRT529426)
- hsa-miR-4775 (MIRT529427)
- hsa-miR-6740-5p (MIRT529428)
- hsa-miR-19b-3p (MIRT529429)
- hsa-miR-19a-3p (MIRT529430)
- hsa-miR-1468-3p (MIRT529431)
- hsa-miR-548x-5p (MIRT529432)
- hsa-miR-548g-5p (MIRT529433)
- hsa-miR-548f-5p (MIRT529434)
- hsa-miR-548aj-5p (MIRT529435)
- hsa-miR-4735-5p (MIRT529436)
- hsa-miR-3613-3p (MIRT529437)
- hsa-miR-648 (MIRT529438)
- hsa-miR-520f-3p (MIRT529439)
- hsa-miR-302c-3p (MIRT529440)
- hsa-miR-512-3p (MIRT529441)
- hsa-miR-590-3p (MIRT529442)
- hsa-miR-33a-3p (MIRT529443)
- hsa-miR-409-3p (MIRT529444)
- hsa-miR-26a-5p (MIRT732676)
- hsa-miR-181d-5p (MIRT734325)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MALT1
- Browse OriGene Inhibitory RNA Products For MALT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MALT1
Clone Products
- Applied Biological Materials (abm): Clones for MALT1 - Select products 50% OFF >
- * MALT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MALT1
- Addgene plasmids for MALT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MALT1
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| lysosome | 2 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Cytosol (2)
- Nucleoli fibrillar center (2)
| 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 | -- |
Pathways & Interactions for MALT1 Gene
| 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) | ||
Pathways by source for MALT1 Gene
3 Sino Biological pathways for MALT1 Gene
7 BioSystems pathways for MALT1 Gene
13 Reactome pathways for MALT1 Gene
1 GeneGo (Thomson Reuters) pathway for MALT1 Gene
- Immune response T cell receptor signaling pathway
1 R&D Systems pathway for MALT1 Gene
5 Qiagen pathways for MALT1 Gene
- CD28 Signaling in T-Helper Cell
- NF-KappaB Family Pathway
- PI3K Signaling in B-Lymphocyte
- PKC-Theta Pathway
- TCR Signaling
2 Cell Signaling Technology pathways 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:0002726 | positive regulation of T cell cytokine production | IMP | 15125833 |
| GO:0006508 | proteolysis | IEA,IDA | 18223652 |
| GO:0006952 | defense response | NAS | 10523859 |
Transcripts for MALT1 Gene
mRNA/cDNA for MALT1 Gene
- 2 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000345724 2866 nts (view in UCSC)
- ENST00000587438 869 nts (view in UCSC)
- ENST00000589873 2246 nts (view in UCSC)
- ENST00000591792 565 nts (view in UCSC)
- ENST00000648670 2185 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MALT1 - Select products 50% OFF >
- * MALT1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MALT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MALT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MALT1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MALT1
- Browse OriGene Inhibitory RNA Products For MALT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MALT1
Clone Products
- Applied Biological Materials (abm): Clones for MALT1 - Select products 50% OFF >
- * MALT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MALT1
- Addgene plasmids for MALT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MALT1
Relevant External Links for MALT1 Gene
- GeneLoc Exon Structure for
- MALT1
Expression for MALT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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, MaxQB, and MOPED for MALT1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MALT1
SOURCE GeneReport for Unigene cluster for MALT1 Gene:
Hs.601217mRNA 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(4.5)
- Blood(3.1)
- Lymph node(3)
- Spleen(2.8)
- Intestine(2.6)
- Stomach(2.6)
- Bone marrow(2.5)
- Skin(2.4)
- Liver(2.1)
- Lung(2.1)
- Thyroid gland(2.1)
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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for MALT1
Gene Expression Assay Products
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.
| 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 |
- Species where no ortholog for MALT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for MALT1: view image
Paralogs for MALT1 Gene
No data available for Paralogs for MALT1 Gene
Variants for MALT1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MALT1 Gene
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MALT1 Gene
Disorders for MALT1 Gene
(30) MalaCards diseases for MALT1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 12 |
|
|
| lymphoma, mucosa-associated lymphoid type |
|
|
| lymphoma |
|
|
| mastoiditis |
|
|
| marginal zone b-cell lymphoma |
|
|
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
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No data available for Genatlas for MALT1 Gene
Publications for MALT1 Gene
- 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 23
- 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 23
- 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 23
- 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 23 41
- MALT1 contains nuclear export signals and regulates cytoplasmic localization of BCL10. (PMID: 16123224) Nakagawa M … Seto M (Blood 2005) 3 4 23
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