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 GGPS1
Gene summary
Basic gene Info.Gene symbolGGPS1
Gene namegeranylgeranyl diphosphate synthase 1
SynonymsGGPPS|GGPPS1
CytomapUCSC genome browser: 1q43
Type of geneprotein-coding
RefGenesNM_001037277.1,
NR_036605.1,NM_001037278.1,NM_004837.3,
Description(2E,6E)-farnesyl diphosphate synthaseGGPP synthaseGGPPSasedimethylallyltranstransferasefarnesyl diphosphate synthasefarnesyltranstransferasegeranylgeranyl pyrophosphate synthasegeranyltranstransferase
Modification date20141207
dbXrefs MIM : 606982
HGNC : HGNC
Ensembl : ENSG00000152904
HPRD : 06099
Vega : OTTHUMG00000037963
ProteinUniProt: O95749
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GGPS1
BioGPS: 9453
PathwayNCI Pathway Interaction Database: GGPS1
KEGG: GGPS1
REACTOME: GGPS1
Pathway Commons: GGPS1
ContextiHOP: GGPS1
ligand binding site mutation search in PubMed: GGPS1
UCL Cancer Institute: GGPS1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006720isoprenoid metabolic process10026212


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Ligand binding site mutations for GGPS1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K212K212NCOAD1
D188R187MCOAD1
D64D65HLUSC1
K212S214LSKCM1
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 GGPS1
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
D64D65H-1.2250921
K212K212N-0.83612544
D188R187M-0.79521441
K212S214L-0.26285473
(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 GGPS1 from PDB

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Differential gene expression and gene-gene network for GGPS1
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 GGPS1 and the right PPI network was created from samples without mutations in the LBS of GGPS1. 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 GGPS1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for GGPS1
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
ApprovedDB00399Zoledronic acidSmall molecule
ExperimentalDB02552Geranyl DiphosphateSmall molecule
ExperimentalDB04695FARNESYL THIOPYROPHOSPHATESmall molecule
ExperimentalDB04714ISOPENTENYL PYROPHOSPHATESmall molecule
ExperimentalDB06830(1-HYDROXYHEPTANE-1,1-DIYL)BIS(PHOSPHONIC ACID)Small molecule
ExperimentalDB06931(1-HYDROXYNONANE-1,1-DIYL)BIS(PHOSPHONIC ACID)Small molecule
ExperimentalDB07221(2,2-DIPHOSPHONOETHYL)(DODECYL)DIMETHYLPHOSPHONIUMSmall molecule
ExperimentalDB07410[2-(3-DIBENZOFURAN-4-YL-PHENYL)-1-HYDROXY-1-PHOSPHONO-ETHYL]-PHOSPHONIC ACIDSmall molecule
ExperimentalDB07780FARNESYL DIPHOSPHATESmall molecule
ExperimentalDB07841GERANYLGERANYL DIPHOSPHATESmall molecule
ExperimentalDB07873(1-HYDROXYDODECANE-1,1-DIYL)BIS(PHOSPHONIC ACID)Small molecule
ExperimentalDB08529(6E,11E)-HEPTADECA-6,11-DIENE-9,9-DIYLBIS(PHOSPHONIC ACID)Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GGPS1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MGMAGNESIUM(2+)2q80AD64
MGMAGNESIUM(2+)2q80AD64
MGMAGNESIUM(2+)2q80BD64
MGMAGNESIUM(2+)2q80BD64
MGMAGNESIUM(2+)2q80CD64
MGMAGNESIUM(2+)2q80CD64
MGMAGNESIUM(2+)2q80DD64
MGMAGNESIUM(2+)2q80DD64
MGMAGNESIUM(2+)2q80ED64
MGMAGNESIUM(2+)2q80ED64
MGMAGNESIUM(2+)2q80FD64
MGMAGNESIUM(2+)2q80FD64
GRGGERANYLGERANYL DIPHOSPHATE(3-)2q80FD64 D188
GRGGERANYLGERANYL DIPHOSPHATE(3-)2q80AD64 D188 K212
GRGGERANYLGERANYL DIPHOSPHATE(3-)2q80CD64 D188 K212
GRGGERANYLGERANYL DIPHOSPHATE(3-)2q80DD64 D188 K212
GRGGERANYLGERANYL DIPHOSPHATE(3-)2q80ED64 D188 K212
GRGGERANYLGERANYL DIPHOSPHATE(3-)2q80BD64 K212


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Conservation information for LBS of GGPS1
Multiple alignments for O95749 in multiple species
LBSAA sequence# speciesSpecies
A159GLFGLAVGLMQ4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A159GLFRLGIKLMQ1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
A159GLFRLTLRLME1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A159GLFRLTVRIME1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D129QGQGLDIYWRD4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D129RGQGLDIYWRD2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D129RGQGMDLFWRD1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
D188FFQIRDDYANL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D188IFQIADDYHNL1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
D188IYQIRDDYLNL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D188LYQVRDDYLNL1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D64ASLLIDDIEDN3Homo sapiens, Bos taurus, Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D64ASLLIDDIEDS2Mus musculus, Rattus norvegicus
D64ASLLVDDVEDN1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
D64SSLLIDDIEDN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D68IDDIEDNSKLR2Homo sapiens, Bos taurus
D68IDDIEDSSKLR2Mus musculus, Rattus norvegicus
D68VDDVEDNSVLR1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
D68IDDIEDNAPLR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D68IDDIEDNSAWR1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E210CEDLTEGKFSF5Homo sapiens, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Bos taurus, Mus musculus, Rattus norvegicus
E210AEDITEGKLSF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E210ADDITEGKFSY1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F156KTGGLFGLAVG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
F156KTGGLFRLGIK1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
F156KTGGLFRLTLR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F156KTGGLFRLTVR1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F35KLSQAFNHWLK4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
F35QMVKAFDAWLD1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
F35NLIVQINRVMN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F35TLIRVFNGFYG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H57VTEMLHNASLL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H57VISMLHTASLL1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H57IVELLHNSSLL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H57LVEMLHVASLL1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K151AMVLQKTGGLF4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
K151EMVSNKTGGLF1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K151NMVMNKTGGLF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K151RMVMHKTGGLF1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K202EYSENKSFCED4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
K202EYTANKGMCED1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K202QMSSEKGFAED1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K202RMSENKGFADD1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K212DLTEGKFSFPT4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
K212DLTEGKFSFPV1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K212DITEGKLSFPI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K212DITEGKFSYPI1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
L122RQLLELHQGQG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L122EELLNLHRGQG1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
L122EELINLHRGQG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L122EEMMNLHRGQG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
L155QKTGGLFGLAV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L155NKTGGLFRLGI1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
L155NKTGGLFRLTL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L155HKTGGLFRLTV1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
L31QVRTKLSQAFN3Homo sapiens, Bos taurus, Rattus norvegicus
L31DIRSQMVKAFD1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
L31QVRSKLSQAFN1Mus musculus
L31NFRLNLIVQIN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L31NFRNTLIRVFN1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
M163LAVGLMQLFSD4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
M163LGIKLMQAESR1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
M163LTLRLMEALSP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M163LTVRIMEALRE1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Q126ELHQGQGLDIY4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Q126NLHRGQGLDIY2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Q126NLHRGQGMDLF1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Q185LGLFFQIRDDY4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Q185IGLIFQIADDY1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Q185LGIIYQIRDDY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q185LGVLYQVRDDY1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R28PGKQVRTKLSQ3Homo sapiens, Bos taurus, Rattus norvegicus
R28PGKDIRSQMVK1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
R28PGKQVRSKLSQ1Mus musculus
R28PGKNFRLNLIV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R28PGKNFRNTLIR1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R73DNSKLRRGFPV2Homo sapiens, Bos taurus
R73DSSKLRRGFPV2Mus musculus, Rattus norvegicus
R73DNSVLRRGFPV1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
R73DNAPLRRGQTT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R73DNSAWRRGVAA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S32VRTKLSQAFNH3Homo sapiens, Bos taurus, Rattus norvegicus
S32IRSQMVKAFDA1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S32VRSKLSQAFNH1Mus musculus
S32FRLNLIVQINR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S32FRNTLIRVFNG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S60MLHNASLLIDD4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
S60MLHTASLLVDD1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S60LLHNSSLLIDD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S60MLHVASLLIDD1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T152MVLQKTGGLFG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
T152MVSNKTGGLFR1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
T152MVMNKTGGLFR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T152MVMHKTGGLFR1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T53IIIEVTEMLHN4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
T53VITKVISMLHT1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
T53IVSQIVELLHN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T53AVTELVEMLHV1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
V160LFGLAVGLMQL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
V160LFRLGIKLMQA1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
V160LFRLTLRLMEA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V160LFRLTVRIMEA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)


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