Property Summary

NCBI Gene PubMed Count 29
PubMed Score 92.99
PubTator Score 108.17

Knowledge Summary

Patent (10,809)


  Disease Sources (4)

Disease Target Count
Deficiency of fructokinase 1
Disease Target Count P-value
atypical teratoid / rhabdoid tumor 4369 2.8587088939184E-7
lung cancer 4473 1.96705474171049E-5
medulloblastoma, large-cell 6234 3.3258232773553E-5
medulloblastoma 1524 5.22438451140002E-5
astrocytoma 1493 0.00248325778302821
adult high grade glioma 2148 0.00319929136924663
nephrosclerosis 329 0.00336894653292674
pancreatic ductal adenocarcinoma liver metastasis 1795 0.0340231579966465
Disease Target Count
Fructosuria 1


  Differential Expression (8)

Disease log2 FC p
nephrosclerosis -1.835 0.003
astrocytoma -1.100 0.002
atypical teratoid / rhabdoid tumor -1.600 0.000
medulloblastoma -1.100 0.000
medulloblastoma, large-cell -1.200 0.000
pancreatic ductal adenocarcinoma liver m... -1.676 0.034
lung cancer 1.700 0.000
adult high grade glioma -1.100 0.003


Accession P50053 Q6IBK2 Q99532 Q9BRJ3 Q9UMN1



PANTHER Protein Class (3)


2HLZ   2HQQ   2HW1   3B3L   3NBV   3NBW   3NC2   3NC9   3NCA   3Q92   3QA2   3QAI   3RO4  

  Ortholog (13)

  TechDev Info (1)

Gary Johnson Kinome profile via MIB/MS Technology

Gene RIF (10)

26083752 myocardial hypoxia actuates fructose metabolism in human and mouse models of pathological cardiac hypertrophy through hypoxia-inducible factor 1alpha (HIF1alpha) activation of SF3B1 and SF3B1-mediated splice switching of KHK-A to KHK-C
24876114 These studies identify fructokinase as a novel mediator of diabetic nephropathy and document a novel role for endogenous fructose production, or fructoneogenesis, in driving renal disease.
23341889 This study determined if single nucleotide polymorphisms in genes involved in fructose transport,SLC2A2 and SLC2A5 and metabolism, etohexokinase affect inter-individual variability in metabolic phenotypes.
23112875 In human hepatocytes uric acid up-regulates KHK expression thus leading to the amplification of the lipogenic effects of fructose.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19237742 The structure of the KHK-A ternary complex revealed an active site with fructose & the ATP analogue in positions ready for phosphorylation. The effects of the pathogenic mutations Gly40Arg & Ala43Thr have been modelled in the context of the KHK structure.
19158351 Ketohexokinase-dependent metabolism of fructose induces proinflammatory mediators in proximal tubular cells.
16372272 The expression of ketohexokinase is diminished in human clear cell type of renal cell carcinoma
12941785 ketohexokinase-A serves an unknown physiologic function that remains intact in essential fructosuria.

AA Sequence

GCQVAGKKCGLQGFDGIV                                                        281 - 298

Text Mined References (31)

PMID Year Title
26083752 2015 HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease.
25416956 2014 A proteome-scale map of the human interactome network.
24876114 2014 Endogenous fructose production and fructokinase activation mediate renal injury in diabetic nephropathy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23341889 2013 Impact of genetic polymorphisms of SLC2A2, SLC2A5, and KHK on metabolic phenotypes in hypertensive individuals.
23112875 2012 Uric acid stimulates fructokinase and accelerates fructose metabolism in the development of fatty liver.
22371574 2012 Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.