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mutLBSgeneDB |
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| Gene summary for MTRR |
 Gene summary |
| Basic gene Info. | Gene symbol | MTRR |
| Gene name | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase | |
| Synonyms | MSR|cblE | |
| Cytomap | UCSC genome browser: 5p15.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002454.2, NM_024010.2, | |
| Description | [methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing)methionine synthase reductasemethionine synthase reductase, mitochondrial | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 602568 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000124275 | ||
| HPRD : 03979 | ||
| Vega : OTTHUMG00000090477 | ||
| Protein | UniProt: Q9UBK8 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MTRR | |
| BioGPS: 4552 | ||
| Pathway | NCI Pathway Interaction Database: MTRR | |
| KEGG: MTRR | ||
| REACTOME: MTRR | ||
| Pathway Commons: MTRR | ||
| Context | iHOP: MTRR | |
| ligand binding site mutation search in PubMed: MTRR | ||
| UCL Cancer Institute: MTRR | ||
| 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 |
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| Ligand binding site mutations for MTRR |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | W724 | I723T | COAD | 1 | W724 | D722N | LUAD | 1 | V500,F502 | E501G | LUAD | 1 | T517 | W519C | LUAD | 1 | S637 | S635F | SKCM | 1 | S481 | S481L | SKCM | 1 | G514 | R512Q | STAD | 1 | M683 | M683I | UCEC | 1 | R552 | R552Q | UCEC | 1 | P572 | T574P | UCEC | 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 MTRR |
| 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 | W724 | I723T | -1.5651504 | G514 | R512Q | -1.5272386 | R552 | R552Q | -1.0866174 | W724 | D722N | -1.0783905 | T517 | W519C | -1.049433 | F502 | E501G | -0.80109837 | V500 | E501G | -0.80109837 | M683 | M683I | -0.78671685 | P572 | T574P | -0.45800395 | S637 | S635F | -0.36183354 | S481 | S481L | -0.32433356 |
| (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 MTRR from PDB |
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| Differential gene expression and gene-gene network for MTRR |
| 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 MTRR |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0598608 | Hyperhomocysteinemia | 14 | Biomarker, GeneticVariation |
| umls:C1961102 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | 6 | Biomarker, GeneticVariation |
| umls:C0019880 | Homocystinuria | 5 | Biomarker |
| umls:C0021364 | Infertility, Male | 3 | Biomarker, GeneticVariation |
| umls:C0009404 | Colorectal Neoplasms | 3 | Biomarker, GeneticVariation |
| umls:C1856057 | Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type | 1 | Biomarker, GeneticVariation |
| umls:C0001430 | Adenoma | 1 | Biomarker |
| umls:C3658338 | Drug-Related Side Effects and Adverse Reactions | 1 | Biomarker |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| umls:C0027765 | 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 MTRR |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00115 | Cyanocobalamin | Small molecule |  |
| Approved|nutraceutical | DB00134 | L-Methionine | Small molecule |  |
| Approved | DB00200 | Hydroxocobalamin | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MTRR go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of MTRR |
| Multiple alignments for Q9UBK8 in multiple species |
| LBS | AA sequence | # species | Species | C448 | FIRDASVCLLD | 2 | Mus musculus, Rattus norvegicus | C448 | FVRDACACLLD | 1 | Homo sapiens | C448 | FVRTPGLSLAD | 1 | Caenorhabditis elegans | C448 | FVREAGACLSD | 1 | Bos taurus | C516 | LRKGVCTGWLA | 2 | Homo sapiens, Rattus norvegicus | C516 | SRKGLATDWLN | 1 | Caenorhabditis elegans | C516 | PRKGVCTGWLA | 1 | Mus musculus | C516 | LRRGVCTGWLA | 1 | Bos taurus | C607 | WLFFGCRHKDR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C607 | VLFFGCRDSSV | 1 | Caenorhabditis elegans | C607 | WLFFGCRHKER | 1 | Bos taurus | D679 | IYVCGDAKNMA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D679 | IFICGDAKGMS | 1 | Caenorhabditis elegans | D679 | VYVCGDAKNMA | 1 | Bos taurus | D686 | KNMAKDVHDAL | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | D686 | KGMSKDVWQCF | 1 | Caenorhabditis elegans | D686 | KNMAKDVNDTL | 1 | Mus musculus | F497 | KLHFVFNIVEF | 2 | Homo sapiens, Mus musculus | F497 | KARLIYSEMEF | 1 | Caenorhabditis elegans | F497 | KLHFVFNIVEL | 1 | Rattus norvegicus | F497 | KLHFIFNIVEF | 1 | Bos taurus | F502 | FNIVEFLSTAT | 1 | Homo sapiens | F502 | YSEMEFPATDG | 1 | Caenorhabditis elegans | F502 | FNIVEFPPSTT | 1 | Mus musculus | F502 | FNIVELPSNTT | 1 | Rattus norvegicus | F502 | FNIVEFLSNTT | 1 | Bos taurus | G514 | EVLRKGVCTGW | 1 | Homo sapiens | G514 | RHSRKGLATDW | 1 | Caenorhabditis elegans | G514 | ASPRKGVCTGW | 1 | Mus musculus | G514 | ASLRKGVCTGW | 1 | Rattus norvegicus | G514 | VILRRGVCTGW | 1 | Bos taurus | K318 | -NDAIKTTLLV | 1 | Homo sapiens | K318 | FSKKIKTKRMI | 1 | Caenorhabditis elegans | K318 | -NDAVKSTLLL | 1 | Mus musculus | K318 | -NDAIKTTLLL | 1 | Rattus norvegicus | K318 | -NDAIKTTLLI | 1 | Bos taurus | M683 | GDAKNMAKDVH | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | M683 | GDAKGMSKDVW | 1 | Caenorhabditis elegans | M683 | GDAKNMAKDVN | 1 | Mus musculus | P479 | KLQPRPYSCAS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P479 | RLIPRPYSMSS | 1 | Caenorhabditis elegans | P572 | IIMVGPGTGVA | 2 | Mus musculus, Rattus norvegicus | P572 | IIMVGPGTGIA | 1 | Homo sapiens | P572 | LLMVGPGTGVS | 1 | Caenorhabditis elegans | P572 | IIMVGPGAGVA | 1 | Bos taurus | Q653 | PAKYVQDNIQL | 1 | Homo sapiens | Q653 | KGERVQDGLRK | 1 | Caenorhabditis elegans | Q653 | PAKYVQDNLQR | 1 | Mus musculus | Q653 | PAKYVQDNLQH | 1 | Rattus norvegicus | Q653 | PAKYVQDSLQR | 1 | Bos taurus | R478 | PKLQPRPYSCA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R478 | PRLIPRPYSMS | 1 | Caenorhabditis elegans | R552 | ISISPRTTNSF | 2 | Homo sapiens, Bos taurus | R552 | LGMTKNSAGKL | 1 | Caenorhabditis elegans | R552 | IRISPRATNAF | 1 | Mus musculus | R552 | ILISPRATNSF | 1 | Rattus norvegicus | R608 | LFFGCRHKDRD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R608 | LFFGCRDSSVD | 1 | Caenorhabditis elegans | R608 | LFFGCRHKERD | 1 | Bos taurus | S481 | QPRPYSCASSS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S481 | IPRPYSMSS-- | 1 | Caenorhabditis elegans | S637 | LKVSFSRDAAP | 2 | Mus musculus, Rattus norvegicus | S637 | LKVSFSRDAPV | 1 | Homo sapiens | S637 | LII-------- | 1 | Caenorhabditis elegans | S637 | LEVSFSRDVAV | 1 | Bos taurus | T517 | RKGVCTGWLAT | 2 | Mus musculus, Rattus norvegicus | T517 | RKGVCTGWLAL | 1 | Homo sapiens | T517 | RKGLATDWLNS | 1 | Caenorhabditis elegans | T517 | RRGVCTGWLAT | 1 | Bos taurus | V496 | DKLHFVFNIVE | 2 | Mus musculus, Rattus norvegicus | V496 | GKLHFVFNIVE | 1 | Homo sapiens | V496 | RKARLIYSEME | 1 | Caenorhabditis elegans | V496 | GKLHFIFNIVE | 1 | Bos taurus | V500 | FVFNIVEFLST | 1 | Homo sapiens | V500 | LIYSEMEFPAT | 1 | Caenorhabditis elegans | V500 | FVFNIVEFPPS | 1 | Mus musculus | V500 | FVFNIVELPSN | 1 | Rattus norvegicus | V500 | FIFNIVEFLSN | 1 | Bos taurus | V515 | VLRKGVCTGWL | 1 | Homo sapiens | V515 | HSRKGLATDWL | 1 | Caenorhabditis elegans | V515 | SPRKGVCTGWL | 1 | Mus musculus | V515 | SLRKGVCTGWL | 1 | Rattus norvegicus | V515 | ILRRGVCTGWL | 1 | Bos taurus | W724 | YLQDIWS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W724 | YIEDVWG | 1 | Caenorhabditis elegans | W724 | YLQDIW- | 1 | Bos taurus | Y480 | LQPRPYSCASS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y480 | LIPRPYSMSS- | 1 | Caenorhabditis elegans | Y651 | EAPAKYVQDNL | 2 | Mus musculus, Rattus norvegicus | Y651 | EAPAKYVQDNI | 1 | Homo sapiens | Y651 | EQKGERVQDGL | 1 | Caenorhabditis elegans | Y651 | EGPAKYVQDSL | 1 | Bos taurus |
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