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 PFKP
Gene summary
Basic gene Info.Gene symbolPFKP
Gene namephosphofructokinase, platelet
SynonymsATP-PFK|PFK-C|PFK-P|PFKF
CytomapUCSC genome browser: 10p15.3-p15.2
Type of geneprotein-coding
RefGenesNM_001242339.1,
NM_002627.4,
Description6-phosphofructokinase type C6-phosphofructokinase, platelet typeATP-PFKATP-dependent 6-phosphofructokinase, platelet typePhosphofructokinase, platelet typephosphofructo-1-kinase isozyme Cphosphofructokinase 1phosphohexokinase
Modification date20141207
dbXrefs MIM : 171840
HGNC : HGNC
Ensembl : ENSG00000067057
HPRD : 01384
Vega : OTTHUMG00000017556
ProteinUniProt: Q01813
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PFKP
BioGPS: 5214
PathwayNCI Pathway Interaction Database: PFKP
KEGG: PFKP
REACTOME: PFKP
Pathway Commons: PFKP
ContextiHOP: PFKP
ligand binding site mutation search in PubMed: PFKP
UCL Cancer Institute: PFKP
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 PFKP

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
H307V308MUCEC1
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 PFKP
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
H307V308M-0.098703292
(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 PFKP from PDB

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Differential gene expression and gene-gene network for PFKP
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 PFKP and the right PPI network was created from samples without mutations in the LBS of PFKP. 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 PFKP
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 PFKP
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PFKP go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
F6PD-FRUCTOSE 6-PHOSPHATE4xz2BH307
F6PD-FRUCTOSE 6-PHOSPHATE4xz2DH307


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Conservation information for LBS of PFKP
Multiple alignments for Q01813 in multiple species
LBSAA sequence# speciesSpecies
A420VINVGAPAAGM2Homo sapiens, Mus musculus
A420IVHVGAPSAAL2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
A420IINVGAPAAGM1Rattus norvegicus
A96TIIGSARCQAF2Homo sapiens, Rattus norvegicus
A96TIIGSARCKAF1Mus musculus
A96TLIGTARSMEF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A96TLIGTARSKEF1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
C98IGSARCQAFRT1Homo sapiens
C98IGSARCKAFRS1Mus musculus
C98IGSARCQAFRS1Rattus norvegicus
C98IGTARSMEFRK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C98IGTARSKEFRE1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D128CVIGGDGSLTG3Homo sapiens, Mus musculus, Rattus norvegicus
D128VVCGGDGSLTG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D128VVIGGDGSLTG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D175MVGSIDNDFCG3Homo sapiens, Mus musculus, Rattus norvegicus
D175LVGSIDNDMSG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D175MVGSIDNDMSG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D177GSIDNDFCGTD3Homo sapiens, Mus musculus, Rattus norvegicus
D177GSIDNDMSGTD2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E273IIIVAEGAIDT1Homo sapiens
E273IIIVSEGAIDM1Mus musculus
E273IIIVSEGAIDT1Rattus norvegicus
E273TIIVAEGALDD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E273TVIVAEGALDD1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E489PGKYLEKIAEQ2Mus musculus, Rattus norvegicus
E489PGKYLEEIATQ1Homo sapiens
E489ASEDLGTIAYY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E489AAEDMGTIAYH1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E639LVLRNESCSEN1Homo sapiens
E639LVLRNESCSVN1Mus musculus
E639LVLRNENCSVN1Rattus norvegicus
E639LLVRNEQASSV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E639LVIRNEMASDV1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F101ARCQAFRTREG1Homo sapiens
F101ARCKAFRSREG1Mus musculus
F101ARCQAFRSREG1Rattus norvegicus
F101ARSMEFRKREG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F101ARSKEFRERWG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G126NLCVIGGDGSL3Homo sapiens, Mus musculus, Rattus norvegicus
G126ALVVCGGDGSL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G126ALVVIGGDGSL1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G127LCVIGGDGSLT3Homo sapiens, Mus musculus, Rattus norvegicus
G127LVVCGGDGSLT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G127LVVIGGDGSLT1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G129VIGGDGSLTGA4Homo sapiens, Mus musculus, Rattus norvegicus, Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G129VCGGDGSLTGA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G133DGSLTGANLFR3Homo sapiens, Mus musculus, Rattus norvegicus
G133DGSLTGADLFR2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G172VVGMVGSIDND3Homo sapiens, Mus musculus, Rattus norvegicus
G172IVGLVGSIDND1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G172IVGMVGSIDND1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G33GVLTSGGDAQG3Homo sapiens, Mus musculus, Rattus norvegicus
G33AVMTSGGDSPG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G33AVMTSGGDSQG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G34VLTSGGDAQGM3Homo sapiens, Mus musculus, Rattus norvegicus
G34VMTSGGDSPGM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G34VMTSGGDSQGM1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G584IIETMGGYCGY3Homo sapiens, Mus musculus, Rattus norvegicus
G584VCEVQGGHSGY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G584VVEVQGGHSGY1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H307VTILGHVQRGG4Homo sapiens, Mus musculus, Rattus norvegicus, Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H307ITTLGHVQRGG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H525AAREKHEEFCV1Homo sapiens
H525AAREKHEAFCV1Mus musculus
H525AARNKHEAFCV1Rattus norvegicus
H525DGRTQHPIFNI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H525DGRDQYPIFNI1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H671KNVLGHMQQGG3Homo sapiens, Mus musculus, Rattus norvegicus
H671TAIPGHVQQGG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
I174GMVGSIDNDFC3Homo sapiens, Mus musculus, Rattus norvegicus
I174GLVGSIDNDMS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I174GMVGSIDNDMS1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
K524SAAREKHEEFC1Homo sapiens
K524AAAREKHEAFC1Mus musculus
K524AAARNKHEAFC1Rattus norvegicus
K524RDGRTQHPIFN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K524RDGRDQYPIFN1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
L136LTGANLFRKEW3Homo sapiens, Mus musculus, Rattus norvegicus
L136LTGADLFRHEW1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L136LTGADLFRSEW1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
M217FVLEVMGRHCG3Homo sapiens, Mus musculus, Rattus norvegicus
M217FVVEVMGRHCG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
M39GDAQGMNAAVR3Homo sapiens, Mus musculus, Rattus norvegicus
M39GDSPGMNAAVR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M39GDSQGMNAAVR1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
M583FIIETMGGYCG3Homo sapiens, Mus musculus, Rattus norvegicus
M583FVCEVQGGHSG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M583FVVEVQGGHSG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Q674LGHMQQGGAPS3Homo sapiens, Mus musculus, Rattus norvegicus
Q674PGHVQQGGVPS2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R102RCQAFRTREGR1Homo sapiens
R102RCKAFRSREGR1Mus musculus
R102RCQAFRSREGR1Rattus norvegicus
R102RSMEFRKREGR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R102RSKEFRERWGR1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R210AQSHQRTFVLE3Homo sapiens, Mus musculus, Rattus norvegicus
R210AKSHSRAFVVE2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R219LEVMGRHCGYL3Homo sapiens, Mus musculus, Rattus norvegicus
R219VEVMGRHCGWL2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R301LGFDTRVTILG2Mus musculus, Rattus norvegicus
R301LGYDTRVTILG1Homo sapiens
R301LGLDTKVTILG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R301LGLDTKITTLG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R310LGHVQRGGTPS3Homo sapiens, Mus musculus, Rattus norvegicus
R310LGHVQRGGTAV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R481ILGTKRTLPGK2Mus musculus, Rattus norvegicus
R481ILGTKRVLPGK1Homo sapiens
R481EIGTNRSVASE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R481EIGTNRSVAAE1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R97IIGSARCQAFR2Homo sapiens, Rattus norvegicus
R97IIGSARCKAFR1Mus musculus
R97LIGTARSMEFR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R97LIGTARSKEFR1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S130IGGDGSLTGAN3Homo sapiens, Mus musculus, Rattus norvegicus
S130CGGDGSLTGAD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S130IGGDGSLTGAD1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S173VGMVGSIDNDF3Homo sapiens, Mus musculus, Rattus norvegicus
S173VGLVGSIDNDM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S173VGMVGSIDNDM1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S32IGVLTSGGDAQ3Homo sapiens, Mus musculus, Rattus norvegicus
S32IAVMTSGGDSP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S32IAVMTSGGDSQ1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S540VPATVSNNVPG3Homo sapiens, Mus musculus, Rattus norvegicus
S540IPATVSNNVPG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
T132GDGSLTGANLF3Homo sapiens, Mus musculus, Rattus norvegicus
T132GDGSLTGADLF2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
T538VMVPATVSNNV3Homo sapiens, Mus musculus, Rattus norvegicus
T538CLIPATVSNNV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
V539MVPATVSNNVP3Homo sapiens, Mus musculus, Rattus norvegicus
V539LIPATVSNNVP2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Y64FIYEGYQGMVD2Homo sapiens, Rattus norvegicus
Y64FIYEGYQGLVD1Mus musculus
Y64AVYEGYEGLLR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y64AVYEGYEGLVK1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)


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