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mutLBSgeneDB |
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| Gene summary for BCAT1 |
 Gene summary |
| Basic gene Info. | Gene symbol | BCAT1 |
| Gene name | branched chain amino-acid transaminase 1, cytosolic | |
| Synonyms | BCATC|BCT1|ECA39|MECA39|PNAS121|PP18 | |
| Cytomap | UCSC genome browser: 12p12.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001178091.1, NM_001178092.1,NM_001178093.1,NM_001178094.1,NM_005504.6, | |
| Description | branched chain aminotransferase 1, cytosolicbranched-chain-amino-acid aminotransferase, cytosolicplacental protein 18 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 113520 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000060982 | ||
| HPRD : 00216 | ||
| Vega : OTTHUMG00000169053 | ||
| Protein | UniProt: P54687 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BCAT1 | |
| BioGPS: 586 | ||
| Pathway | NCI Pathway Interaction Database: BCAT1 | |
| KEGG: BCAT1 | ||
| REACTOME: BCAT1 | ||
| Pathway Commons: BCAT1 | ||
| Context | iHOP: BCAT1 | |
| ligand binding site mutation search in PubMed: BCAT1 | ||
| UCL Cancer Institute: BCAT1 | ||
| 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 BCAT1 |
| 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 | K222 | K222N | COAD | 1 | Q243 | G241W | LUSC | 1 | C335 | C335R | LUSC | 1 | Y193 | S195L | SKCM | 1 | R163 | R163C | SKCM | 1 | N262 | N262H | STAD | 1 | V175 | K176R | STAD | 1 | R163 | R163C | 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 BCAT1 |
| 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 | K222 | K222N | -1.4935434 | R163 | R163C | -1.2789723 | C335 | C335R | -1.0391648 | N262 | N262H | -0.66128074 | Q243 | G241W | -0.61377337 | Y193 | S195L | -0.46108521 | V175 | K176R | -0.20728142 |
| (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 BCAT1 from PDB |
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| Differential gene expression and gene-gene network for BCAT1 |
| 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 BCAT1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| umls:C0043094 | Weight Gain | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BCAT1 |
| 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 |  |
| Nutraceutical | DB00142 | L-Glutamic Acid | Small molecule |  |
| Approved|nutraceutical | DB00149 | L-Leucine | Small molecule |  |
| Approved|nutraceutical | DB00161 | L-Valine | Small molecule |  |
| Approved|nutraceutical | DB00167 | L-Isoleucine | Small molecule |  |
| Experimental | DB07544 | N'-(5-CHLOROBENZOFURAN-2-CARBONYL)-2-(TRIFLUOROMETHYL)BENZENESULFONOHYDRAZIDE | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of BCAT1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PLP | PYRIDOXAL 5'-PHOSPHATE | 2cog | A | K222 N262 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2cog | B | K222 N262 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2coi | A | K222 N262 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2coi | B | K222 N262 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2coj | A | K222 N262 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2coj | B | K222 N262 | GBN | GABAPENTIN | 2coj | B | R163 | 4MV | 4-METHYL VALERIC ACID | 2cog | A | R163 Y193 | GBN | GABAPENTIN | 2coi | A | R163 Y193 | GBN | GABAPENTIN | 2coi | B | R163 Y193 | GBN | GABAPENTIN | 2coj | A | R163 Y193 | 4MV | 4-METHYL VALERIC ACID | 2cog | A | V175 | 4MV | 4-METHYL VALERIC ACID | 2cog | B | V175 | GBN | GABAPENTIN | 2coi | A | V175 | GBN | GABAPENTIN | 2coi | B | V175 | GBN | GABAPENTIN | 2coj | A | V175 | GBN | GABAPENTIN | 2coj | B | V175 | 4MV | 4-METHYL VALERIC ACID | 2cog | B | Y193 |
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| Conservation information for LBS of BCAT1 |
| Multiple alignments for P54687 in multiple species |
| LBS | AA sequence | # species | Species | A334 | FGSGTACVVCP | 2 | Homo sapiens, Rattus norvegicus | A334 | FCTGTAVVLSP | 1 | Arabidopsis thaliana | A334 | FCTGTAVVVSP | 1 | Arabidopsis thaliana | A334 | FGSGTAAIVSP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A334 | FGSGTACVVSP | 1 | Caenorhabditis elegans | C335 | GSGTACVVCPV | 2 | Homo sapiens, Rattus norvegicus | C335 | CTGTAVVLSPV | 1 | Arabidopsis thaliana | C335 | CTGTAVVVSPV | 1 | Arabidopsis thaliana | C335 | GSGTAAIVSPI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | C335 | GSGTACVVSPV | 1 | Caenorhabditis elegans | C338 | TACVVCPVSDI | 1 | Homo sapiens | C338 | TAVVLSPVGSI | 1 | Arabidopsis thaliana | C338 | TAVVVSPVGSV | 1 | Arabidopsis thaliana | C338 | TAAIVSPIKEI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | C338 | TACVVSPVGKI | 1 | Caenorhabditis elegans | C338 | TACVVCPVASI | 1 | Rattus norvegicus | E257 | KRYLEEVSSCN | 2 | Arabidopsis thaliana, Arabidopsis thaliana | E257 | HQ-ITEVGTMN | 1 | Homo sapiens | E257 | NN-ITEVGTMN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E257 | ED-LTEVGTMN | 1 | Caenorhabditis elegans | E257 | NR-ITEVGTMN | 1 | Rattus norvegicus | F49 | PNNLVFGTVFT | 1 | Homo sapiens | F49 | WDKIDFGLKPT | 1 | Arabidopsis thaliana | F49 | WDTVGFGLKPA | 1 | Arabidopsis thaliana | F49 | NSELVFGKSFT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F49 | PTKLKFGHTYA | 1 | Caenorhabditis elegans | F49 | PSSLVFGASFT | 1 | Rattus norvegicus | F95 | YAVELFEGLKA | 2 | Homo sapiens, Rattus norvegicus | F95 | YGQGLFEGLKA | 2 | Arabidopsis thaliana, Arabidopsis thaliana | F95 | YAFELFEGMKA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F95 | YASELFEGMKA | 1 | Caenorhabditis elegans | G288 | GTILPGITRKS | 2 | Arabidopsis thaliana, Arabidopsis thaliana | G288 | GIILPGVTRRC | 1 | Homo sapiens | G288 | GTILEGVTRDS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G288 | GLILPGVTRDS | 1 | Caenorhabditis elegans | G288 | GVILPGVTRQS | 1 | Rattus norvegicus | G332 | EMFGSGTACVV | 3 | Homo sapiens, Caenorhabditis elegans, Rattus norvegicus | G332 | EVFCTGTAVVL | 1 | Arabidopsis thaliana | G332 | EVFCTGTAVVV | 1 | Arabidopsis thaliana | G332 | EAFGSGTAAIV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K222 | GTGGVKTIGNY | 2 | Arabidopsis thaliana, Arabidopsis thaliana | K222 | GTGDCKMGGNY | 1 | Homo sapiens | K222 | GCGDKKLGANY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K222 | GVGAYKMGCNY | 1 | Caenorhabditis elegans | K222 | GTGDFKMGCNY | 1 | Rattus norvegicus | L173 | GTGAVLGLAPA | 2 | Arabidopsis thaliana, Arabidopsis thaliana | L173 | GTEPSLGVKKP | 1 | Homo sapiens | L173 | GTTAGLGVSTP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L173 | GTDPTLGVGCA | 1 | Caenorhabditis elegans | L173 | GIEPSLGVKKP | 1 | Rattus norvegicus | L286 | K-GTILPGITR | 2 | Arabidopsis thaliana, Arabidopsis thaliana | L286 | D-GIILPGVTR | 1 | Homo sapiens | L286 | D-GTILEGVTR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L286 | HRGLILPGVTR | 1 | Caenorhabditis elegans | L286 | D-GVILPGVTR | 1 | Rattus norvegicus | M261 | TEVGTMN-LFL | 2 | Homo sapiens, Rattus norvegicus | M261 | EEVSSCN-IFI | 2 | Arabidopsis thaliana, Arabidopsis thaliana | M261 | TEVGTMNAFFV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M261 | TEVGTMN-IFL | 1 | Caenorhabditis elegans | N262 | EVGTMN-LFLY | 2 | Homo sapiens, Rattus norvegicus | N262 | EVSSCN-IFIV | 2 | Arabidopsis thaliana, Arabidopsis thaliana | N262 | EVGTMNAFFVF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N262 | EVGTMN-IFLF | 1 | Caenorhabditis elegans | Q243 | KAKGYSDVLYL | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Q243 | VDNGCQQVLWL | 1 | Homo sapiens | Q243 | ASRGYQQNLWL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q243 | ASKNCQQVLWL | 1 | Caenorhabditis elegans | Q243 | AENGCHQVLWL | 1 | Rattus norvegicus | Q244 | AKGYSDVLYLD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Q244 | DNGCQQVLWLY | 1 | Homo sapiens | Q244 | SRGYQQNLWLF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q244 | SKNCQQVLWLY | 1 | Caenorhabditis elegans | Q244 | ENGCHQVLWLY | 1 | Rattus norvegicus | R119 | NLNMDRMYRSA | 1 | Homo sapiens | R119 | EENAIRMRNGA | 1 | Arabidopsis thaliana | R119 | EENAKRMRNGA | 1 | Arabidopsis thaliana | R119 | DMNMKRMNKSA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R119 | EMNMARMKRTA | 1 | Caenorhabditis elegans | R119 | DLNMKRMCRSA | 1 | Rattus norvegicus | R163 | ASLYIRPTFIG | 2 | Homo sapiens, Rattus norvegicus | R163 | GSLYIRPLLMG | 1 | Arabidopsis thaliana | R163 | GSLYVRPLLMG | 1 | Arabidopsis thaliana | R163 | YSLYIRPTLIG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R163 | CSLYLRPTLIG | 1 | Caenorhabditis elegans | R212 | NPKYVRAWKGG | 1 | Homo sapiens | R212 | ETEFHRATPGG | 1 | Arabidopsis thaliana | R212 | ENEFHRATPGG | 1 | Arabidopsis thaliana | R212 | TDYATRAWPGG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R212 | DSRFIRAFPGG | 1 | Caenorhabditis elegans | R212 | NPKFVRSWKGG | 1 | Rattus norvegicus | T260 | ITEVGTMN-LF | 2 | Homo sapiens, Rattus norvegicus | T260 | LEEVSSCN-IF | 2 | Arabidopsis thaliana, Arabidopsis thaliana | T260 | ITEVGTMNAFF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T260 | LTEVGTMN-IF | 1 | Caenorhabditis elegans | T290 | ILPGVTRRCIL | 1 | Homo sapiens | T290 | ILPGITRKSII | 1 | Arabidopsis thaliana | T290 | ILPGITRKSMI | 1 | Arabidopsis thaliana | T290 | ILEGVTRDSIL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T290 | ILPGVTRDSLL | 1 | Caenorhabditis elegans | T290 | ILPGVTRQSIL | 1 | Rattus norvegicus | T333 | MFGSGTACVVC | 2 | Homo sapiens, Rattus norvegicus | T333 | VFCTGTAVVLS | 1 | Arabidopsis thaliana | T333 | VFCTGTAVVVS | 1 | Arabidopsis thaliana | T333 | AFGSGTAAIVS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T333 | MFGSGTACVVS | 1 | Caenorhabditis elegans | V175 | GAVLGLAPAPE | 2 | Arabidopsis thaliana, Arabidopsis thaliana | V175 | EPSLGVKKPTK | 1 | Homo sapiens | V175 | TAGLGVSTPDR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V175 | DPTLGVGCATE | 1 | Caenorhabditis elegans | V175 | EPSLGVKKPSK | 1 | Rattus norvegicus | V289 | IILPGVTRRCI | 1 | Homo sapiens | V289 | TILPGITRKSI | 1 | Arabidopsis thaliana | V289 | TILPGITRKSM | 1 | Arabidopsis thaliana | V289 | TILEGVTRDSI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V289 | LILPGVTRDSL | 1 | Caenorhabditis elegans | V289 | VILPGVTRQSI | 1 | Rattus norvegicus | Y161 | TSASLYIRPTF | 2 | Homo sapiens, Rattus norvegicus | Y161 | GKGSLYIRPLL | 1 | Arabidopsis thaliana | Y161 | GKGSLYVRPLL | 1 | Arabidopsis thaliana | Y161 | KGYSLYIRPTL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y161 | DVCSLYLRPTL | 1 | Caenorhabditis elegans | Y193 | SPVGNYFKEG- | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Y193 | SPVGPYFSSGT | 1 | Homo sapiens | Y193 | CPVGPYYKTG- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y193 | GPVGAYYSTG- | 1 | Caenorhabditis elegans | Y193 | SPVGSYFSNGT | 1 | Rattus norvegicus | Y227 | KTIGNYAAVLK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Y227 | KMGGNYGSSLF | 1 | Homo sapiens | Y227 | KLGANYAPCVL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y227 | KMGCNYAPTIW | 1 | Caenorhabditis elegans | Y227 | KMGCNYGSSLL | 1 | Rattus norvegicus | Y90 | AGVLNYGQGLF | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Y90 | SSALHYAVELF | 1 | Homo sapiens | Y90 | AVVFHYAFELF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y90 | AKVLHYASELF | 1 | Caenorhabditis elegans | Y90 | ASVLHYAVELF | 1 | Rattus norvegicus |
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