MALT1
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:604860 Ensembl IDEnsembl:ENSG00000172175 HGNC IDHGNC:HGNC:6819 PHARMGKB IDPA30568 Map Location18q21.32 | |||||
GO terms in MALT1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0001650 | fibrillar center |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
Gene expression in normal tissue: MALT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MALT1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1168372 | Downstream signaling events of B Cell Receptor (BCR) |
| reactome | R-HSA-1168372 | Downstream signaling events of B Cell Receptor (BCR) |
| reactome | R-HSA-1169091 | Activation of NF-kappaB in B cells |
| reactome | R-HSA-1169091 | Activation of NF-kappaB in B cells |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-1280218 | Adaptive Immune System |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MALT1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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