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 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 T cell receptor signaling pathway. 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.
-
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
- Monarch Initiative
- Search for MALT1 at DataMed
- Search for MALT1 at HumanCyc
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
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MALT1 gene promoter:
-
- Pax-4a
- GATA-1
- MEF-2A
- MEF-2
- aMEF-2
- c-Ets-1
- POU2F1
- POU2F1a
- Olf-1
- ATF-2
Regulatory Element Products
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)
- 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 Entrez Gene
- 18q21.32 by HGNC
- 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
- R&D Systems Antibodies for MALT1 (MALT1)
-
Custom Antibody ServicesOriGene Antibodies for MALT1
- Novus Biologicals Antibodies for MALT1
-
Abcam antibodies for MALT1
- Invitrogen Antibodies for MALT1 (AFLGC-MALT1)
- antibodies-online: Search results for 194 available MALT1 Antibodies ranked by validation data
- Compare Top MALT1 Antibodies
-
Recommended
- 134 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 5 IHC Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 1 Func Antibody (anti-human)
- 1 IF Antibody (anti-human)
- 26 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 25 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- GeneTex MALT1 Antibody for MALT1
-
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
- Search GeneTex for Proteins for MALT1
-
Abcam proteins for MALT1
Assay Products
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MALT1 Gene
- GenScript: Design optimal peptide antigens:
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.
- 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:0004871 | obsolete signal transducer activity | HMP | -- |
| GO:0005515 | protein binding | IPI | 14695475 |
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
- Cyagen custom Knockout/knockin (KOKI) mouse models for MALT1
-
CRISPR Products
-
OriGene CRISPR knockouts for MALT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MALT1
- genomics-online: gRNA clones - Search results for 82 available MALT1 gene related products
- Overview of 82 available MALT1 gene related products
- Applied Biological Materials CRISPR for MALT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MALT1
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 82 available MALT1 gene related products
- Overview of 82 available MALT1 gene related products
Clone Products
- 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
- Applied Biological Materials Clones for MALT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Nucleoli (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IDA,IEA | 16123224 |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 16123224 |
| GO:0005829 | cytosol | TAS,IDA | -- |
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
1 R&D Systems pathway for MALT1 Gene
5 Qiagen pathways for MALT1 Gene
2 Cell Signaling Technology pathways for MALT1 Gene
Interacting Proteins for MALT1 Gene
Selected Interacting proteins:
Q9UDY8-MALT1_HUMAN
ENSP00000319279
for MALT1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MALT1
| 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 |
Transcripts for MALT1 Gene
mRNA/cDNA for MALT1 Gene
- (3) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (132) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000348428 9368 bps (uc002lhm.3)
- ENST00000345724 2866 bps (uc002lhn.3)
- ENST00000591792 565 bps (uc060ppl.1)
- ENST00000589873 2246 bps (uc060ppo.1)
- ENST00000587438 869 bps (uc060ppp.1)
Unigene Clusters for MALT1 Gene
- Mucosa associated lymphoid tissue lymphoma translocation gene 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MALT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MALT1
- genomics-online: gRNA clones - Search results for 82 available MALT1 gene related products
- Overview of 82 available MALT1 gene related products
- Applied Biological Materials CRISPR for MALT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MALT1
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 82 available MALT1 gene related products
- Overview of 82 available MALT1 gene related products
Clone Products
- 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
- Applied Biological Materials Clones for MALT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of MALT1 Gene:
MALT1SOURCE 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(4.2)
- 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
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
- genomics-online: primer clones - Search results for 82 available MALT1 gene related products
- Overview of 82 available MALT1 gene related products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MALT1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MALT1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Malt1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Malt1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | MALT1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LOC426852 33 |
|
||
| MALT1 34 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | MALT1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | malt1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | malt1b 34 33 |
|
OneToOne | |
| malt1 33 |
|
||||
| worm (Caenorhabditis elegans) |
Secernentea | F22D3.6 34 35 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.1584 34 |
|
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)
- 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
| 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 |
| 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
(19) MalaCards diseases for MALT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 12 |
|
|
| lymphoma, mucosa-associated lymphoid type |
|
|
| lymphoma |
|
|
| marginal zone b-cell lymphoma |
|
|
| primary cutaneous 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
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 22 58
- 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
- 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
- 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
- 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
- R&D Systems Antibodies for MALT1 (MALT1)
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- Custom Antibody ServicesOriGene Antibodies for MALT1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for MALT1
- Origene Custom Protein Services for MALT1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MALT1
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- OriGene qPCR primer pairs for MALT1
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- Browse OriGene miRNA Products For MALT1
- GenScript: Next-day shipping of latest version cDNA ORF clones for MALT1 in any vector
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- GenScript Custom overexpressing Cell Line Services for MALT1
- GenScript: Design CRISPR guide RNA sequences for MALT1
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- Sino Biological Human cDNA Clone for MALT1
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for MALT1
- Novus Biologicals proteins and lysates for MALT1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Taconic Biosciences Mouse Models for MALT1
- Find your next knockout model in the Taconic Knockout Repository
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- Humanized Mice
- Invitrogen Antibodies for MALT1 (AFLGC-MALT1)
- Cyagen custom Knockout/knockin (KOKI) mouse models for MALT1
- Addgene plasmids for MALT1
- antibodies-online: Search results for 194 available MALT1 Antibodies ranked by validation data
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- 134 WB Antibodies (anti-human)
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- 5 IHC Antibodies (anti-human)
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- 2 FACS Antibodies (anti-human)
- 1 Func Antibody (anti-human)
- 1 IF Antibody (anti-human)
- 26 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 25 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- antibodies-online: Search results for available MALT1 related products ranked by validation data
- antibodies-online: Search results for 6 available MALT1 Proteins ranked by validation data
- Compare Top MALT1 Proteins
- GeneTex MALT1 Antibody for MALT1
- Search GeneTex for Proteins for MALT1
- Santa Cruz Biotechnology (SCBT) Antibodies for MALT1
- Search Santa Cruz Biotechnology (SCBT) for MALT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MALT1
- Horizon Cell Lines for MALT1
- genomics-online: cdna clones - Search results for 82 available MALT1 gene related products
- Overview of 82 available MALT1 gene related products
- orf clones - Search results for 82 available MALT1 gene related products
- Overview of 82 available MALT1 gene related products
- genomics-online: gRNA clones - Search results for 82 available MALT1 gene related products
- Overview of 82 available MALT1 gene related products
- genomics-online: primer clones - Search results for 82 available MALT1 gene related products
- Overview of 82 available MALT1 gene related products
- genomics-online: shRNA clones - Search results for 82 available MALT1 gene related products
- Overview of 82 available MALT1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MALT1
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- GeneCopoeia miRNA 3'UTR Target clone products for MALT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MALT1
Sources for MALT1 Gene
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- (68) Cloud-Clone Corp.
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- (74) GeneGo (Thomson Reuters)
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