mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for GOT1
Gene summary
Basic gene Info.Gene symbolGOT1
Gene nameglutamic-oxaloacetic transaminase 1, soluble
SynonymsASTQTL1|GIG18|cAspAT|cCAT
CytomapUCSC genome browser: 10q24.1-q25.1
Type of geneprotein-coding
RefGenesNM_002079.2,
Descriptionaspartate aminotransferase 1aspartate aminotransferase, cytoplasmicaspartate transaminase 1cysteine aminotransferase, cytoplasmiccysteine transaminase, cytoplasmicglutamate oxaloacetate transaminase 1growth-inhibiting protein 18transaminase A
Modification date20141207
dbXrefs MIM : 138180
HGNC : HGNC
Ensembl : ENSG00000120053
HPRD : 00687
Vega : OTTHUMG00000018882
ProteinUniProt: P17174
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GOT1
BioGPS: 2805
PathwayNCI Pathway Interaction Database: GOT1
KEGG: GOT1
REACTOME: GOT1
Pathway Commons: GOT1
ContextiHOP: GOT1
ligand binding site mutation search in PubMed: GOT1
UCL Cancer Institute: GOT1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006533aspartate catabolic process2241899


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Ligand binding site mutations for GOT1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R267G269WLUAD1
Y226Q227ELUAD1
R267R267KUCEC1
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 GOT1
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

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.
LBSAAchange of nsSNVRelative stability change
R267G269W0.23666067
R267R267K-1.6761071
Y226Q227E-0.030223331
(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 GOT1 from PDB

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Differential gene expression and gene-gene network for GOT1
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)
* Left PPI network was created from samples with mutations in the LBS of GOT1 and the right PPI network was created from samples without mutations in the LBS of GOT1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for GOT1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0023893Liver Cirrhosis, Experimental1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for GOT1
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
NutraceuticalDB00114Pyridoxal PhosphateSmall molecule
Approved|nutraceuticalDB00128L-Aspartic AcidSmall molecule
NutraceuticalDB00142L-Glutamic AcidSmall molecule
Approved|nutraceuticalDB00151L-CysteineSmall molecule
ExperimentalDB04299Maleic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GOT1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
PLPPYRIDOXAL 5'-PHOSPHATE3ii0AY226 R267
PLPPYRIDOXAL 5'-PHOSPHATE3ii0BY226 R267
PLPPYRIDOXAL 5'-PHOSPHATE3ii0CY226 R267
PLPPYRIDOXAL 5'-PHOSPHATE3ii0DY226 R267


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Conservation information for LBS of GOT1
Multiple alignments for P17174 in multiple species
LBSAA sequence# speciesSpecies
A225PFFDSAYQGFA8Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
A225ALFDTAYQGFA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A225VVFDIAYQGFA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A225TFFDIAYQGFA1Caenorhabditis elegans
D223LFPFFDSAYQG6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
D223HIALFDTAYQG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D223HLVVFDIAYQG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D223LMPFFDSAYQG1Arabidopsis thaliana
D223LLPFFDSAYQG1Oryza sativa subsp. japonica
D223LFTFFDIAYQG1Caenorhabditis elegans
G108GVQSLGGTGAL4Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes
G108SVQSLSGTGAL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G108SMQSVSGTGAN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G108TVECLSGTGSL1Arabidopsis thaliana
G108TVQCLSGTGSL1Oryza sativa subsp. japonica
G108GVQCLSGTGAL1Caenorhabditis elegans
G108SVQGLGGTGAL1Gallus gallus
G108GVQCLGGTGAL1Bos taurus
G109VQSLGGTGALR4Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes
G109VQSLSGTGALH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G109MQSVSGTGANF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G109VECLSGTGSLR1Arabidopsis thaliana
G109VQCLSGTGSLR1Oryza sativa subsp. japonica
G109VQCLSGTGALR1Caenorhabditis elegans
G109VQGLGGTGALR1Gallus gallus
G109VQCLGGTGALR1Bos taurus
K259AQSFSKNFGLY6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
K259AQSYAKNMGLY2Arabidopsis thaliana, Oryza sativa subsp. japonica
K259CQSFAKNAGMY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K259CQSFAKNMGLY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K259SQSFAKNFGLY1Caenorhabditis elegans
N195HACAHNPTGTD4Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
N195HACAHNPTGID3Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Pan troglodytes
N195HACAHNPTGVD2Arabidopsis thaliana, Oryza sativa subsp. japonica
N195HSCAHNPTGLD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N195HGCAHNPTGMD1Caenorhabditis elegans
R267GLYNERVGNLT6Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
R267GLYGERVGALS2Arabidopsis thaliana, Oryza sativa subsp. japonica
R267GMYGERVGCFH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R267GLYGERTGCMH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R267GLYNERVGNLS1Gallus gallus
S256LFCAQSFSKNF4Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
S256FFCAQSFSKNF2Homo sapiens, Pan troglodytes
S256VFVCQSFAKNA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S256FFVCQSFAKNM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S256CLVAQSYAKNM1Arabidopsis thaliana
S256LLMAQSYAKNM1Oryza sativa subsp. japonica
S256MVVSQSFAKNF1Caenorhabditis elegans
S258CAQSFSKNFGL6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
S258VCQSFAKNAGM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S258VCQSFAKNMGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S258VAQSYAKNMGL1Arabidopsis thaliana
S258MAQSYAKNMGL1Oryza sativa subsp. japonica
S258VSQSFAKNFGL1Caenorhabditis elegans
T110QSLGGTGALRI4Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes
T110QSLSGTGALHI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T110QSVSGTGANFL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T110ECLSGTGSLRV1Arabidopsis thaliana
T110QCLSGTGSLRV1Oryza sativa subsp. japonica
T110QCLSGTGALRA1Caenorhabditis elegans
T110QGLGGTGALRI1Gallus gallus
T110QCLGGTGALRI1Bos taurus
W141VSSPTWENHNA3Homo sapiens, Mus musculus, Pan troglodytes
W141VSSPTWENHNG2Rattus norvegicus, Bos taurus
W141LSKPTWANHMA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W141ISNPTWPVHRT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W141ITQPTWGNHPK1Arabidopsis thaliana
W141IPQPTWGNHPK1Oryza sativa subsp. japonica
W141VSNPTWGNHKL1Caenorhabditis elegans
W141VSSPTWENHNS1Gallus gallus
Y226FFDSAYQGFAS8Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
Y226LFDTAYQGFAT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y226VFDIAYQGFAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y226FFDIAYQGFAS1Caenorhabditis elegans


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