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mutLBSgeneDB |
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| Gene summary for PFKFB1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PFKFB1 |
| Gene name | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 | |
| Synonyms | F6PK|HL2K|PFRX | |
| Cytomap | UCSC genome browser: Xp11.21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001271804.1, NM_001271805.1,NM_002625.3,NR_073450.1, | |
| Description | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 16PF-2-K/Fru-2,6-P2ASE liver isozyme6PF-2-K/Fru-2,6-P2ase 1PFK/FBPase 1fructose-6-phosphate,2-kinase:fructose-2,6-bisphosphatase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 311790 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000158571 | ||
| HPRD : 02411 | ||
| Vega : OTTHUMG00000021643 | ||
| Protein | UniProt: P16118 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PFKFB1 | |
| BioGPS: 5207 | ||
| Pathway | NCI Pathway Interaction Database: PFKFB1 | |
| KEGG: PFKFB1 | ||
| REACTOME: PFKFB1 | ||
| Pathway Commons: PFKFB1 | ||
| Context | iHOP: PFKFB1 | |
| ligand binding site mutation search in PubMed: PFKFB1 | ||
| UCL Cancer Institute: PFKFB1 | ||
| 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 | GO:0006003 | fructose 2,6-bisphosphate metabolic process | 2837207 | GO:0016311 | dephosphorylation | 2837207 |
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| Ligand binding site mutations for PFKFB1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V223 | D222E | LUAD | 1 | Q173 | R172S | LUSC | 1 | Q173 | R172M | LUSC | 1 | I220 | I218T | 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 PFKFB1 |
| 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 | I220 | I218T | -1.7929767 | Q173 | R172S | -1.3254995 | V223 | D222E | -0.95292157 | Q173 | R172M | -0.85594923 |
| (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 PFKFB1 from PDB |
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| Differential gene expression and gene-gene network for PFKFB1 |
| 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 PFKFB1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PFKFB1 |
| 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 |
| Experimental | DB02393 | D-Gluco-2,5-Anhydro-1-Deoxy-1-Phosphonohexitol-6-Phosphate | Small molecule |  |
| Experimental | DB02515 | 3-Phosphoglycerol | Small molecule |  |
| Experimental | DB02930 | Phosphothiophosphoric Acid-Adenylate Ester | Small molecule |  |
| Experimental | DB04137 | Guanosine-5'-Triphosphate | Small molecule |  |
| Experimental | DB04493 | Fructose-6-Phosphate | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PFKFB1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of PFKFB1 |
| Multiple alignments for P16118 in multiple species |
| LBS | AA sequence | # species | Species | A429 | KLTPVAYGCKV | 2 | Homo sapiens, Bos taurus | A429 | KLTPVAYGCRV | 2 | Mus musculus, Rattus norvegicus | A52 | MVGLPARGKTY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D131 | HVAVFDATNTT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D131 | RVAVFDATNTT | 1 | Bos taurus | G54 | GLPARGKTYIS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I220 | LSYIKIFDVGT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K175 | NIRQVKLGSPD | 2 | Homo sapiens, Bos taurus | K175 | NIKQVKLGSPD | 2 | Mus musculus, Rattus norvegicus | K55 | LPARGKTYIST | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N170 | GIIAENIRQVK | 1 | Homo sapiens | N170 | DIIAENIKQVK | 1 | Mus musculus | N170 | EIIAENIKQVK | 1 | Rattus norvegicus | N170 | DVIAENIRQVK | 1 | Bos taurus | Q173 | AENIRQVKLGS | 2 | Homo sapiens, Bos taurus | Q173 | AENIKQVKLGS | 2 | Mus musculus, Rattus norvegicus | R53 | VGLPARGKTYI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S159 | VFFIESICNDP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T56 | PARGKTYISTK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V174 | ENIRQVKLGSP | 2 | Homo sapiens, Bos taurus | V174 | ENIKQVKLGSP | 2 | Mus musculus, Rattus norvegicus | V223 | IKIFDVGTRYM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V249 | LMNIHVTPRSI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y430 | LTPVAYGCKVE | 2 | Homo sapiens, Bos taurus | Y430 | LTPVAYGCRVE | 2 | Mus musculus, Rattus norvegicus | Y57 | ARGKTYISTKL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus |
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