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mutLBSgeneDB |
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| Gene summary for MRE11A |
 Gene summary |
| Basic gene Info. | Gene symbol | MRE11A |
| Gene name | MRE11 meiotic recombination 11 homolog A (S. cerevisiae) | |
| Synonyms | ATLD|HNGS1|MRE11|MRE11B | |
| Cytomap | UCSC genome browser: 11q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005590.3, NM_005591.3, | |
| Description | AT-like diseaseDNA recombination and repair proteinMRE11 homolog 1MRE11 homolog Adouble-strand break repair protein MRE11Aendo/exonuclease Mre11meiotic recombination 11 homolog 1meiotic recombination 11 homolog A | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 600814 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000020922 | ||
| HPRD : 02889 | ||
| Vega : OTTHUMG00000167780 | ||
| Protein | UniProt: P49959 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRE11A | |
| BioGPS: 4361 | ||
| Pathway | NCI Pathway Interaction Database: MRE11A | |
| KEGG: MRE11A | ||
| REACTOME: MRE11A | ||
| Pathway Commons: MRE11A | ||
| Context | iHOP: MRE11A | |
| ligand binding site mutation search in PubMed: MRE11A | ||
| UCL Cancer Institute: MRE11A | ||
| 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:0006974 | cellular response to DNA damage stimulus | 17500065 | GO:0031954 | positive regulation of protein autophosphorylation | 15790808 | GO:0033674 | positive regulation of kinase activity | 15790808 |
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| Ligand binding site mutations for MRE11A |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H217 | Q218K | BRCA | 1 | D20 | D20Y | COAD | 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 MRE11A |
| 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 |
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| 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 | D20 | D20Y | 0.12962609 | H217 | Q218K | -0.60801429 |
| (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 MRE11A from PDB |
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| Differential gene expression and gene-gene network for MRE11A |
| 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 MRE11A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1858391 | Ataxia Telangiectasia Like Disorder | 17 | Biomarker, GeneticVariation |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MRE11A |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MRE11A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MN | MANGANESE(2+) | 3t1i | A | D20 | MN | MANGANESE(2+) | 3t1i | B | D20 | MN | MANGANESE(2+) | 3t1i | C | D20 | MN | MANGANESE(2+) | 3t1i | D | D20 | MN | MANGANESE(2+) | 3t1i | D | D20 H217 | MN | MANGANESE(2+) | 3t1i | A | H217 | MN | MANGANESE(2+) | 3t1i | B | H217 | MN | MANGANESE(2+) | 3t1i | C | H217 |
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| Conservation information for LBS of MRE11A |
| Multiple alignments for P49959 in multiple species |
| LBS | AA sequence | # species | Species | D20 | ILVATDIHLGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D20 | VLVATDCHLGY | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | D20 | ILVATDIHCGY | 1 | Caenorhabditis elegans | D20 | ILIATDIHLGY | 1 | Gallus gallus | D20 | ILITTDNHVGY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D20 | ILISSDPHVGY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D20 | ILVSTDNHVGY | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | D60 | ILLGGDLFHEN | 5 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Mus musculus, Rattus norvegicus | D60 | VLLGGDLFHEN | 2 | Oryza sativa subsp. japonica, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | D60 | LLLGGDLFHEN | 1 | Arabidopsis thaliana | D60 | VVQSGDLFHVN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D60 | ILLGGDIFHDN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H217 | NLFVIHQNRSK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H217 | NLFVLHQNRPR | 1 | Caenorhabditis elegans | H217 | NILVLHQNRVK | 1 | Arabidopsis thaliana | H217 | NILVLHQNRIK | 1 | Oryza sativa subsp. japonica | H217 | NMFVIHQNRSK | 1 | Gallus gallus | H217 | NLMCVHQNHTG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H217 | NLLTVHQNHSA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H217 | NLLALHQNHYA | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | H22 | VATDIHLGFME | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H22 | VATDCHLGYME | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | H22 | VATDIHCGYGE | 1 | Caenorhabditis elegans | H22 | IATDIHLGYLE | 1 | Gallus gallus | H22 | ITTDNHVGYNE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H22 | ISSDPHVGYGE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H22 | VSTDNHVGYAE | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | H245 | LVIWGHEHECK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H245 | FIVWGHEHECL | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | H245 | LLIWGHEHECK | 1 | Caenorhabditis elegans | H245 | LAVWGHEHECK | 1 | Gallus gallus | H245 | MVIWGHEHECI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H245 | FVLWGHEHECL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H245 | LVIWGHEHECL | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | H247 | VWGHEHECLID | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | H247 | IWGHEHECKIG | 2 | Mus musculus, Rattus norvegicus | H247 | IWGHEHECKIA | 1 | Homo sapiens | H247 | IWGHEHECKPD | 1 | Caenorhabditis elegans | H247 | VWGHEHECKIT | 1 | Gallus gallus | H247 | IWGHEHECIPN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H247 | LWGHEHECLID | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H247 | IWGHEHECLID | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | N128 | FSIHGNHDDPT | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | N128 | FSIHGNHDDPS | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | N128 | FTIHGNHDDLS | 1 | Caenorhabditis elegans | N128 | FSIHGNHDDPA | 1 | Arabidopsis thaliana | N128 | FTIHGNHDDPA | 1 | Oryza sativa subsp. japonica | N128 | FGISGNHDDAS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) |
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