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 PC
Gene summary
Basic gene Info.Gene symbolPC
Gene namepyruvate carboxylase
SynonymsPCB
CytomapUCSC genome browser: 11q13.4-q13.5
Type of geneprotein-coding
RefGenesNM_000920.3,
NM_001040716.1,NM_022172.2,
Descriptionpyruvate carboxylase, mitochondrialpyruvic carboxylase
Modification date20141219
dbXrefs MIM : 608786
HGNC : HGNC
Ensembl : ENSG00000173599
HPRD : 02032
Vega : OTTHUMG00000167099
ProteinUniProt: P11498
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PC
BioGPS: 5091
PathwayNCI Pathway Interaction Database: PC
KEGG: PC
REACTOME: PC
Pathway Commons: PC
ContextiHOP: PC
ligand binding site mutation search in PubMed: PC
UCL Cancer Institute: PC
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


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Ligand binding site mutations for PC

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K741I740MBLCA1
Q575S576ABRCA1
F618,V614M616IBRCA1
V614A615THNSC1
V614D613GUCEC1
R644R644WUCEC1
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 PC
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
K741I740M-1.1835134
V614D613G-0.83893199
V614A615T-0.75496203
R644R644W-0.62394538
V614M616I-0.60609055
F618M616I-0.60609055
Q575S576A-0.076968097
(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 PC from PDB

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Differential gene expression and gene-gene network for PC
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 PC and the right PPI network was created from samples without mutations in the LBS of PC. 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 PC
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0034341Pyruvate Carboxylase Deficiency Disease6Biomarker, GeneticVariation
umls:C0006413Burkitt Lymphoma1Biomarker
umls:C0023893Liver Cirrhosis, Experimental1Biomarker

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

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Pharmacological information for PC
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
Approved|nutraceuticalDB00119Pyruvic acidSmall molecule
Approved|nutraceuticalDB00121BiotinSmall molecule
ExperimentalDB074975-(HEXAHYDRO-2-OXO-1H-THIENO[3,4-D]IMIDAZOL-6-YL)PENTANALSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PC go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MNMANGANESE(2+)3bg3AK741
MNMANGANESE(2+)3bg3BK741
MNMANGANESE(2+)3bg3CK741
MNMANGANESE(2+)3bg3DK741
MNMANGANESE(2+)3bg9AK741
MNMANGANESE(2+)3bg9BK741
MNMANGANESE(2+)3bg9CK741
MNMANGANESE(2+)3bg9DK741
PYRPYRUVIC ACID3bg3AQ575 R644 K741
PYRPYRUVIC ACID3bg3BQ575 R644 K741
PYRPYRUVIC ACID3bg3CQ575 R644 K741
PYRPYRUVIC ACID3bg3DQ575 R644 K741
BTI5-(HEXAHYDRO-2-OXO-1H-THIENO[3,4-D]IMIDAZOL-6-YL)PENTANAL3bg3BQ575 V614 F618 R644


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Conservation information for LBS of PC
Multiple alignments for P11498 in multiple species
LBSAA sequence# speciesSpecies
A610ENWGGATFDVA3Homo sapiens, Rattus norvegicus, Bos taurus
A610ECWGGATFDVA2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A610EMWGGATFDVS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A610ENWGGATFDVS1Caenorhabditis elegans
D572DTTFRDAHQSL4Homo sapiens, Caenorhabditis elegans, Rattus norvegicus, Bos taurus
D572DTTWRDAHQSL3Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F618DVAMRFLYECP3Homo sapiens, Rattus norvegicus, Bos taurus
F618DVSMRFLHECP2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans
F618DVAMRFLHEDP2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G609LECWGGATFDV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G609IENWGGATFDV2Rattus norvegicus, Bos taurus
G609MENWGGATFDV1Homo sapiens
G609LEMWGGATFDV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G609LENWGGATFDV1Caenorhabditis elegans
H771LPLHIHTHDTS3Homo sapiens, Rattus norvegicus, Bos taurus
H771LPIHVHTHDSA2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H771LPIHVHSHDSA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H771IPIHVHTHDTS1Caenorhabditis elegans
H773LHIHTHDTSGA2Homo sapiens, Bos taurus
H773IHVHTHDSAGT2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H773IHVHSHDSAGT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H773IHVHTHDTSGA1Caenorhabditis elegans
H773LHIHTHDTSGS1Rattus norvegicus
K741HILCIKDMAGL3Homo sapiens, Rattus norvegicus, Bos taurus
K741HILGIKDMAGT2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K741HILGIKDMAGV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K741HILSIKDMAGV1Caenorhabditis elegans
K912VTPSSKIVGDL4Homo sapiens, Caenorhabditis elegans, Rattus norvegicus, Bos taurus
K912VTPTSKVVGDL3Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L642IPFQMLLRGAN6Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Rattus norvegicus, Bos taurus
L642IPFQCLLRGAN1Caenorhabditis elegans
M743LCIKDMAGLLK3Homo sapiens, Rattus norvegicus, Bos taurus
M743LGIKDMAGTMK2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M743LGIKDMAGVMK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M743LSIKDMAGVLK1Caenorhabditis elegans
Q575FRDAHQSLLAT4Homo sapiens, Caenorhabditis elegans, Rattus norvegicus, Bos taurus
Q575WRDAHQSLLAT3Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q807SGMTSQPSMGA4Homo sapiens, Caenorhabditis elegans, Rattus norvegicus, Bos taurus
Q807SGLTSQPSINA2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q807SGLTSQPSFGA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q870EIPGGQYTNLH3Homo sapiens, Rattus norvegicus, Bos taurus
Q870EIPGGQLTNLL2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q870EIPGGQLTNLK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q870EIPGGQYTNLQ1Caenorhabditis elegans
R571MDTTFRDAHQS3Homo sapiens, Rattus norvegicus, Bos taurus
R571MDTTWRDAHQS3Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R571TDTTFRDAHQS1Caenorhabditis elegans
R644FQMLLRGANAV3Homo sapiens, Rattus norvegicus, Bos taurus
R644FQMLLRGANGV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R644FQMLLRGANGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R644FQCLLRGANAM1Caenorhabditis elegans
S911KVTPSSKIVGD4Homo sapiens, Caenorhabditis elegans, Rattus norvegicus, Bos taurus
S911KVTPTSKVVGD3Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T908DLIKVTPSSKI3Homo sapiens, Rattus norvegicus, Bos taurus
T908DIVKVTPTSKV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T908DIIKVTPTSKV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T908DIIKVTPSSKI1Caenorhabditis elegans
V614GATFDVAMRFL5Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Rattus norvegicus, Bos taurus
V614GATFDVSMRFL2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans
V907GDLIKVTPSSK3Homo sapiens, Rattus norvegicus, Bos taurus
V907GDIVKVTPTSK2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V907GDIIKVTPTSK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V907GDIIKVTPSSK1Caenorhabditis elegans
Y651ANAVGYTNYPD3Homo sapiens, Rattus norvegicus, Bos taurus
Y651ANGVAYSSLPD2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y651ANGLCYSSLPD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y651ANAMGYSNYPD1Caenorhabditis elegans


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