mutLBSgeneDB |
Gene summary for MALT1 |
Gene summary |
Basic gene Info. | Gene symbol | MALT1 |
Gene name | MALT1 paracaspase | |
Synonyms | IMD12|MLT|MLT1 | |
Cytomap | UCSC genome browser: 18q21 | |
Type of gene | protein-coding | |
RefGenes | NM_006785.3, NM_173844.2, | |
Description | MALT lymphoma-associated translocationMALT1 proteasecaspase-like proteinmucosa associated lymphoid tissue lymphoma translocation gene 1mucosa-associated lymphoid tissue lymphoma translocation protein 1paracaspase | |
Modification date | 20141207 | |
dbXrefs | MIM : 604860 | |
HGNC : HGNC | ||
Ensembl : ENSG00000172175 | ||
HPRD : 06892 | ||
Vega : OTTHUMG00000132761 | ||
Protein | UniProt: Q9UDY8 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MALT1 | |
BioGPS: 10892 | ||
Pathway | NCI Pathway Interaction Database: MALT1 | |
KEGG: MALT1 | ||
REACTOME: MALT1 | ||
Pathway Commons: MALT1 | ||
Context | iHOP: MALT1 | |
ligand binding site mutation search in PubMed: MALT1 | ||
UCL Cancer Institute: MALT1 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0006508 | proteolysis | 18223652 | GO:0016567 | protein ubiquitination | 14695475 | GO:0042981 | regulation of apoptotic process | 12819136 | GO:0050852 | T cell receptor signaling pathway | 15125833 | GO:0051168 | nuclear export | 16123224 | GO:0051259 | protein oligomerization | 15125833 |
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Ligand binding site mutations for MALT1 |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | E497 | E497V | BLCA | 1 | V381 | S382L | BLCA | 1 | A394 | R392C | COAD | 1 | E497 | G495A | HNSC | 1 | V381 | S382L | LUAD | 1 | K358 | H356Y | LUAD | 1 | E500 | E500D | SKCM | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for MALT1 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | V381 | S382L | 0.21838124 | K358 | H356Y | -0.93170645 | A394 | R392C | -0.70248884 | E500 | E500D | -0.5959327 | E497 | E497V | -0.57559432 | E497 | G495A | -0.55319047 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for MALT1 from PDB |
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Differential gene expression and gene-gene network for MALT1 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for MALT1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0079744 | Lymphoma, Large B-Cell, Diffuse | 12 | Biomarker, GeneticVariation |
umls:C3809583 | IMMUNODEFICIENCY 12 | 1 | GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for MALT1 |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of MALT1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (LEU,ARG,SER) | 4i1p | A | E497 E500 | III | Peptide ligand (VAL,ARG,PRO,ARG) | 3uo8 | B | K358 E497 E500 | III | Peptide ligand (VAL,ARG,PRO,ARG) | 3uo8 | C | K358 E497 E500 | III | Peptide ligand (VAL,ARG,PRO,ARG) | 3uoa | B | K358 E497 E500 | III | Peptide ligand (VAL,ARG,PRO,ARG) | 3uoa | C | K358 E497 E500 | III | Peptide ligand (PHQ,VAL,ARG,PRO,ARG,CF0) | 3v4o | A | K358 E497 E500 | III | Peptide ligand (LEU,ARG,SER) | 4i1p | C | K358 E497 E500 | LZU | THIORIDAZINE | 10-{2-[(2S)-1-METHYLPIPERIDIN-2-YL]ETHYL}-2- (METHYLSULFANYL)-10H-PHENOTHIAZINE | 4i1r | A | V381 A394 |
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Conservation information for LBS of MALT1 |
Multiple alignments for Q9UDY8 in multiple species |
LBS | AA sequence | # species | Species |
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