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mutLBSgeneDB |
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| Gene summary for AGXT |
 Gene summary |
| Basic gene Info. | Gene symbol | AGXT |
| Gene name | alanine-glyoxylate aminotransferase | |
| Synonyms | AGT|AGT1|AGXT1|PH1|SPAT|SPT|TLH6 | |
| Cytomap | UCSC genome browser: 2q37.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000030.2, | |
| Description | L-alanine: glyoxylate aminotransferase 1alanine--glyoxylate aminotransferasehepatic peroxisomal alanine:glyoxylate aminotransferaseserine--pyruvate aminotransferaseserine-pyruvate aminotransferaseserine:pyruvate aminotransferase | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 604285 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000172482 | ||
| HPRD : 05048 | ||
| Vega : OTTHUMG00000133354 | ||
| Protein | UniProt: P21549 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AGXT | |
| BioGPS: 189 | ||
| Pathway | NCI Pathway Interaction Database: AGXT | |
| KEGG: AGXT | ||
| REACTOME: AGXT | ||
| Pathway Commons: AGXT | ||
| Context | iHOP: AGXT | |
| ligand binding site mutation search in PubMed: AGXT | ||
| UCL Cancer Institute: AGXT | ||
| 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:0009436 | glyoxylate catabolic process | 22198249 | GO:0019265 | glycine biosynthetic process, by transamination of glyoxylate | 22198249 | GO:0019448 | L-cysteine catabolic process | 18492492 | GO:0042853 | L-alanine catabolic process | 17696873 |
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| Ligand binding site mutations for AGXT |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Q208 | Q208H | LUSC | 1 | G29 | P30L | SKCM | 1 | Y260 | M259I | 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 AGXT |
| 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 | Y260 | M259I | -1.1200128 | G29 | P30L | -0.4888661 | Q208 | Q208H | -0.25480153 |
| (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 AGXT from PDB |
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| Differential gene expression and gene-gene network for AGXT |
| 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 AGXT |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0268164 | Primary hyperoxaluria type 1 | 69 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for AGXT |
| 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 |
| Nutraceutical | DB00114 | Pyridoxal Phosphate | Small molecule |  |
| Approved|nutraceutical | DB00133 | L-Serine | Small molecule |  |
| Approved|nutraceutical|vet_approved | DB00145 | Glycine | Small molecule |  |
| Approved|nutraceutical | DB00160 | L-Alanine | Small molecule |  |
| Experimental | DB02079 | Aminooxyacetic acid | Small molecule |  |
| Experimental | DB04083 | N'-Pyridoxyl-Lysine-5'-Monophosphate | Small molecule |  |
| Experimental | DB08060 | 4-(2-AMINOPHENYL)-4-OXOBUTANOIC ACID | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of AGXT go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | AOA | (AMINOOXY)ACETIC ACID | 1h0c | A | G29 | AOA | (AMINOOXY)ACETIC ACID | 1j04 | A | G29 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1h0c | A | Q208 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2yob | A | Q208 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2yob | B | Q208 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4cbr | A | Q208 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4cbs | A | Q208 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2yob | A | Y260 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2yob | B | Y260 |
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| Conservation information for LBS of AGXT |
| Multiple alignments for P21549 in multiple species |
| LBS | AA sequence | # species | Species | A186 | LVDSVASLGGV | 2 | Mus musculus, Rattus norvegicus | A186 | LVDSVASLGGT | 1 | Homo sapiens | A186 | VVDAVCSIGCE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A186 | LVDGVSSICAL | 1 | Arabidopsis thaliana | D183 | CLLLVDSVASL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D183 | TFFVVDAVCSI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D183 | ALLLVDGVSSI | 1 | Arabidopsis thaliana | G156 | LFLTHGESSTG | 2 | Homo sapiens, Rattus norvegicus | G156 | VTVTHVDTSTA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G156 | ICIVHNETATG | 1 | Arabidopsis thaliana | G156 | LFLVHGESSTG | 1 | Mus musculus | G29 | LLLGPGPSNLA | 2 | Mus musculus, Rattus norvegicus | G29 | LLLGPGPSNLP | 1 | Homo sapiens | G29 | ----PGPIILS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G29 | ----PGPVNIP | 1 | Arabidopsis thaliana | G82 | VVSGSGHCAME | 2 | Mus musculus, Rattus norvegicus | G82 | VISGSGHCALE | 1 | Homo sapiens | G82 | VLAGSGTLGWD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G82 | LFPTTGTGAWE | 1 | Arabidopsis thaliana | H83 | VSGSGHCAMET | 2 | Mus musculus, Rattus norvegicus | H83 | ISGSGHCALEA | 1 | Homo sapiens | H83 | LAGSGTLGWDI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H83 | FPTTGTGAWES | 1 | Arabidopsis thaliana | K209 | YSGSQKALNAP | 1 | Homo sapiens | K209 | LTASQKAIGAP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K209 | LTGSQKALSLP | 1 | Arabidopsis thaliana | K209 | YSSSQKVLNAP | 1 | Mus musculus | K209 | YSGSQKVLNAP | 1 | Rattus norvegicus | L351 | EIMGGLGPSTG | 1 | Homo sapiens | L351 | VIAGGIHKDIG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L351 | SLGLGLNKVAG | 1 | Arabidopsis thaliana | L351 | EISGGLGPTEE | 1 | Mus musculus | L351 | EISGGLGPSED | 1 | Rattus norvegicus | M348 | FDIEIMGGLGP | 1 | Homo sapiens | M348 | HGVVIAGGIHK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M348 | YNLSLGLGLNK | 1 | Arabidopsis thaliana | M348 | FSIEISGGLGP | 1 | Mus musculus | M348 | FNIEISGGLGP | 1 | Rattus norvegicus | P28 | RLLLGPGPSNL | 2 | Mus musculus, Rattus norvegicus | P28 | QLLLGPGPSNL | 1 | Homo sapiens | P28 | -----PGPIIL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P28 | -----PGPVNI | 1 | Arabidopsis thaliana | Q208 | LYSGSQKALNA | 1 | Homo sapiens | Q208 | ALTASQKAIGA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q208 | ALTGSQKALSL | 1 | Arabidopsis thaliana | Q208 | MYSSSQKVLNA | 1 | Mus musculus | Q208 | LYSGSQKVLNA | 1 | Rattus norvegicus | R360 | G-KVLRIGLLG | 1 | Homo sapiens | R360 | GPKYIRIGHMG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R360 | G-KVFRIGHLG | 1 | Arabidopsis thaliana | R360 | E-RVLRIGLLG | 1 | Mus musculus | R360 | D-KVLRIGLLG | 1 | Rattus norvegicus | S158 | LTHGESSTGVL | 2 | Homo sapiens, Rattus norvegicus | S158 | VTHVDTSTAVL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S158 | IVHNETATGVT | 1 | Arabidopsis thaliana | S158 | LVHGESSTGVV | 1 | Mus musculus | S81 | LVVSGSGHCAM | 2 | Mus musculus, Rattus norvegicus | S81 | LVISGSGHCAL | 1 | Homo sapiens | S81 | FVLAGSGTLGW | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S81 | FLFPTTGTGAW | 1 | Arabidopsis thaliana | T263 | RMYHHTIPVIS | 1 | Homo sapiens | T263 | GAYFATPPVQL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T263 | -YWPYTPSIQL | 1 | Arabidopsis thaliana | T263 | RVIHHTTPVTS | 1 | Mus musculus | T263 | RVIHHTLPVIS | 1 | Rattus norvegicus | V185 | LLVDSVASLGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V185 | FVVDAVCSIGC | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V185 | LLVDGVSSICA | 1 | Arabidopsis thaliana | W108 | GANGIWGQRAV | 1 | Homo sapiens | W108 | VSTGTFSDRFA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | W108 | FLIGQFSLLWI | 1 | Arabidopsis thaliana | W108 | GTNGIWGMRAA | 1 | Mus musculus | W108 | GTNGIWGIRAA | 1 | Rattus norvegicus | Y260 | DQPRMYHHTIP | 1 | Homo sapiens | Y260 | AGKGAYFATPP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y260 | LGT-YWPYTPS | 1 | Arabidopsis thaliana | Y260 | GETRVIHHTTP | 1 | Mus musculus | Y260 | GKTRVIHHTLP | 1 | Rattus norvegicus |
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