Official symbol | MALT1 |
Gene id | 10892 |
Organism | Homo sapiens |
Official full symbol | MALT1 paracaspase |
Gene type | protein-coding |
Also known as | IMD12, MLT, MLT1, PCASP1 |
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 , 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. |
Genomic regions | Chromosome 18 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
MALT1-208 | ENST00000649217.2 | 9289 | 824aa | Protein coding | CCDS11967 | Q9UDY8-1 | NM_006785.4 | GENCODE basic, APPRIS P3, MANE Select v0.92, |
MALT1-201 | ENST00000345724.7 | 2866 | 813aa | Protein coding | CCDS11968 | Q9UDY8-2 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
MALT1-204 | ENST00000591792.1 | 565 | 119aa | Protein coding | - | K7EP42 | - | CDS 3' incomplete, TSL:4, |
MALT1-210 | ENST00000650045.1 | 3312 | 468aa | Nonsense mediated decay | - | A0A3B3IS32 | - | - |
MALT1-205 | ENST00000648670.1 | 2185 | 163aa | Nonsense mediated decay | - | A0A3B3IS82 | - | CDS 5' incomplete, |
MALT1-209 | ENST00000649756.1 | 500 | No protein | Processed transcript | - | - | - | - |
MALT1-207 | ENST00000649202.1 | 2374 | No protein | Retained intron | - | - | - | - |
MALT1-206 | ENST00000649125.1 | 2277 | No protein | Retained intron | - | - | - | - |
MALT1-203 | ENST00000589873.5 | 2246 | No protein | Retained intron | - | - | - | TSL:2, |
MALT1-211 | ENST00000650355.1 | 1519 | No protein | Retained intron | - | - | - | - |
MALT1-202 | ENST00000587438.1 | 869 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | MALT1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene MALT1 had been KO in hela cell line. |
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