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mutLBSgeneDB |
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| Gene summary for MAT1A |
 Gene summary |
| Basic gene Info. | Gene symbol | MAT1A |
| Gene name | methionine adenosyltransferase I, alpha | |
| Synonyms | MAT|MATA1|SAMS|SAMS1 | |
| Cytomap | UCSC genome browser: 10q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000429.2, | |
| Description | MAT 1MAT-I/IIIS-adenosylmethionine synthase isoform type-1S-adenosylmethionine synthetase isoform type-1adoMet synthase 1adoMet synthetase 1methionine adenosyltransferase 1methionine adenosyltransferase I/III | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610550 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000151224 | ||
| HPRD : 02013 | ||
| Vega : OTTHUMG00000018613 | ||
| Protein | UniProt: Q00266 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MAT1A | |
| BioGPS: 4143 | ||
| Pathway | NCI Pathway Interaction Database: MAT1A | |
| KEGG: MAT1A | ||
| REACTOME: MAT1A | ||
| Pathway Commons: MAT1A | ||
| Context | iHOP: MAT1A | |
| ligand binding site mutation search in PubMed: MAT1A | ||
| UCL Cancer Institute: MAT1A | ||
| 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 MAT1A |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S206 | V204I | COAD | 1 | S247 | Q245H | COAD | 1 | S206 | Q208H | LUAD | 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 MAT1A |
| 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 | S206 | V204I | -0.9524862 | S206 | Q208H | -0.9250496 | S247 | Q245H | -0.79792601 |
| (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 MAT1A from PDB |
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| Differential gene expression and gene-gene network for MAT1A |
| 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 MAT1A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2239176 | Carcinoma, Hepatocellular | 22 | Biomarker |
| umls:C0268621 | Methionine Adenosyltransferase Deficiency | 9 | Biomarker, GeneticVariation |
| umls:C0002514 | Amino Acid Metabolism, Inborn Errors | 2 | Biomarker |
| umls:C0006111 | Brain Diseases | 1 | Biomarker |
| umls:C0011303 | Demyelinating Diseases | 1 | Biomarker |
| umls:C0011860 | Diabetes Mellitus, Type 2 | 1 | Biomarker |
| umls:C0015695 | Fatty Liver | 1 | Biomarker |
| umls:C0020507 | Hyperplasia | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MAT1A |
| 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 | DB00118 | S-Adenosylmethionine | Small molecule |  |
| Experimental | DB03191 | 3-Oxiran-2ylalanine | Small molecule |  |
| Experimental | DB03611 | L-2-Amino-4-Methoxy-Cis-but-3-Enoic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MAT1A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SAM | S-ADENOSYL-L-METHIONINE | 2obv | A | S206 S247 |
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| Conservation information for LBS of MAT1A |
| Multiple alignments for Q00266 in multiple species |
| LBS | AA sequence | # species | Species | D179 | PWLRPDSKTQV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D179 | AWLRPDGKTQV | 3 | Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | D179 | PWLQPDSKTQV | 1 | Bos taurus | D179 | RWLRPDGKTQV | 1 | Arabidopsis thaliana | D258 | GGPQGDAGVTG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D258 | GGPHGDAGLTG | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | F250 | QPSGRFVIGGP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F250 | NPSGRFVIGGP | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | H29 | SVGEGHPDKIC | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H29 | SVNEGHPDKLC | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | K181 | LRPDGKTQVTV | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | K181 | LRPDSKTQVTV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K181 | LQPDSKTQVTV | 1 | Bos taurus | P30 | VGEGHPDKICD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | P30 | VNEGHPDKLCD | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | R249 | LQPSGRFVIGG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R249 | LNPSGRFVIGG | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | S206 | HTVLISTQHDE | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | S206 | HTIVISVQHNE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S206 | HTVVISVQHNE | 1 | Bos taurus | S247 | YHLQPSGRFVI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S247 | FHLNPSGRFVI | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica |
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