Property Summary

NCBI Gene PubMed Count 29
PubMed Score 92.99
PubTator Score 108.17

Knowledge Summary

Patent (10,809)

Expression

  Differential Expression (8)

Disease log2 FC p
nephrosclerosis -1.835 3.4e-03
astrocytoma -1.100 2.5e-03
atypical teratoid / rhabdoid tumor -1.600 2.9e-07
medulloblastoma -1.100 5.2e-05
medulloblastoma, large-cell -1.200 3.3e-05
pancreatic ductal adenocarcinoma liver m... -1.676 3.4e-02
lung cancer 1.700 2.0e-05
adult high grade glioma -1.100 3.2e-03

Protein-protein Interaction (1)

Gene RIF (10)

PMID Text
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

MEEKQILCVGLVVLDVISLVDKYPKEDSEIRCLSQRWQRGGNASNSCTVLSLLGAPCAFMGSMAPGHVAD      1 - 70
FLVADFRRRGVDVSQVAWQSKGDTPSSCCIINNSNGNRTIVLHDTSLPDVSATDFEKVDLTQFKWIHIEG     71 - 140
RNASEQVKMLQRIDAHNTRQPPEQKIRVSVEVEKPREELFQLFGYGDVVFVSKDVAKHLGFQSAEEALRG    141 - 210
LYGRVRKGAVLVCAWAEEGADALGPDGKLLHSDAFPPPRVVDTLGAGDTFNASVIFSLSQGRSVQEALRF    211 - 280
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.
19237742 2009 Structures of alternatively spliced isoforms of human ketohexokinase.
19158351 2009 Ketohexokinase-dependent metabolism of fructose induces proinflammatory mediators in proximal tubular cells.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16381901 2006 The LIFEdb database in 2006.
16372272 2006 The expression of ketohexokinase is diminished in human clear cell type of renal cell carcinoma.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12941785 2003 Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11076863 2000 DNA cloning using in vitro site-specific recombination.
9799106 1998 Structure and alternative splicing of the ketohexokinase gene.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8662230 1996 Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7833921 1994 Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase).
2996495 1985 The purification and properties of human liver ketohexokinase. A role for ketohexokinase and fructose-bisphosphate aldolase in the metabolic production of oxalate from xylitol.