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mutLBSgeneDB |
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| Gene summary for TAT |
 Gene summary |
| Basic gene Info. | Gene symbol | TAT |
| Gene name | tyrosine aminotransferase | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 16q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000353.2, | |
| Description | L-tyrosine:2-oxoglutarate aminotransferasetyrosine aminotransferase, cytosolic | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 613018 | |
| HGNC : HGNC | ||
| HPRD : 11776 | ||
| Protein | UniProt: P17735 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TAT | |
| BioGPS: 6898 | ||
| Pathway | NCI Pathway Interaction Database: TAT | |
| KEGG: TAT | ||
| REACTOME: TAT | ||
| Pathway Commons: TAT | ||
| Context | iHOP: TAT | |
| ligand binding site mutation search in PubMed: TAT | ||
| UCL Cancer Institute: TAT | ||
| 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:0006103 | 2-oxoglutarate metabolic process | 7999802 | GO:0006536 | glutamate metabolic process | 7999802 | GO:0006572 | tyrosine catabolic process | 7999802 |
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| Ligand binding site mutations for TAT |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K280 | R281L | LUAD | 1 | R288 | G290C | LUAD | 1 | K280 | R281C | 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 TAT |
| 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 | K280 | R281C | -0.60280063 | R288 | G290C | -0.35547438 | K280 | R281L | -0.27879597 |
| (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 TAT from PDB |
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| Differential gene expression and gene-gene network for TAT |
| 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 TAT |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0268487 | Hypertyrosinemia, Richner-Hanhart type | 11 | Biomarker, GeneticVariation |
| umls:C0268483 | Tyrosinemias | 4 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for TAT |
| 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 | DB00120 | L-Phenylalanine | Small molecule |  |
| Approved|nutraceutical | DB00135 | L-Tyrosine | Small molecule |  |
| Nutraceutical | DB00142 | L-Glutamic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of TAT go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PLP | PYRIDOXAL 5'-PHOSPHATE | 3dyd | A | K280 R288 | PLP | PYRIDOXAL 5'-PHOSPHATE | 3dyd | B | K280 R288 |
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| Conservation information for LBS of TAT |
| Multiple alignments for P17735 in multiple species |
| LBS | AA sequence | # species | Species | A279 | SCGGLAKRWLV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | A279 | VLGAISKRWFV | 1 | Arabidopsis thaliana | C144 | ILTSGCSQAIE | 3 | Bos taurus, Mus musculus, Rattus norvegicus | C144 | ILTSGCSQAID | 1 | Homo sapiens | C144 | HITAGCVQAIE | 1 | Arabidopsis thaliana | D247 | VPILADEIYGD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D247 | ILVIADEVYDH | 1 | Arabidopsis thaliana | F169 | IPRPGFSLYRT | 2 | Mus musculus, Rattus norvegicus | F169 | VPRPGFSLYKT | 1 | Homo sapiens | F169 | LPRPTYPMYDS | 1 | Arabidopsis thaliana | F169 | VPRPGFSLYRT | 1 | Bos taurus | G143 | VILTSGCSQAI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G143 | VHITAGCVQAI | 1 | Arabidopsis thaliana | I148 | GCSQAIELCLA | 3 | Bos taurus, Mus musculus, Rattus norvegicus | I148 | GCSQAIDLCLA | 1 | Homo sapiens | I148 | GCVQAIEILIS | 1 | Arabidopsis thaliana | I249 | ILADEIYGDMV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I249 | VIADEVYDHFA | 1 | Arabidopsis thaliana | K280 | CGGLAKRWLVP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K280 | LGAISKRWFVP | 1 | Arabidopsis thaliana | N215 | ACLVVNNPSNP | 2 | Mus musculus, Rattus norvegicus | N215 | ACLIVNNPSNP | 1 | Homo sapiens | N215 | VAILVINPCNP | 1 | Arabidopsis thaliana | N215 | VCLIVNNPSNP | 1 | Bos taurus | N219 | VNNPSNPCGSV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N219 | VINPCNPCGNV | 1 | Arabidopsis thaliana | R288 | LVPGWRLGWIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R288 | FVPGWRLGWMV | 1 | Arabidopsis thaliana | R288 | LVPGWRMGWIL | 1 | Bos taurus | S145 | LTSGCSQAIEL | 3 | Bos taurus, Mus musculus, Rattus norvegicus | S145 | LTSGCSQAIDL | 1 | Homo sapiens | S145 | ITAGCVQAIEI | 1 | Arabidopsis thaliana | Y250 | LADEIYGDMVF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y250 | IADEVYDHFAF | 1 | Arabidopsis thaliana |
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