| Tchem | Ketohexokinase |
This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Comments
| 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 | Z-score | Confidence |
|---|---|---|---|
| fructose-1,6-bisphosphatase deficiency | 8 | 4.898 | 2.4 |
| Metabolic syndrome X | 155 | 3.418 | 1.7 |
| Disease | Target Count |
|---|---|
| Fructosuria | 1 |
| 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 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG |
| Opossum | EggNOG Inparanoid |
| Platypus | OMA EggNOG |
| Anole lizard | EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| Zebrafish | OMA EggNOG Inparanoid |
CHEMBL2063927
pIC50 7.55
CHEMBL2017250
pIC50 7.64
CHEMBL1809168
pIC50 7.64
CHEMBL2017249
pIC50 7.75
CHEMBL2017242
pIC50 7.75
CHEMBL2017246
pIC50 7.80
CHEMBL2063925
pIC50 7.82
CHEMBL2017214
pIC50 7.92
CHEMBL2017251
pIC50 8.00
CHEMBL2017247
pIC50 8.01
CHEMBL2017253
pIC50 8.10
CHEMBL2017248
pIC50 8.15
CHEMBL2017244
pIC50 8.16
CHEMBL2063924
pIC50 8.70
| 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. |
MEEKQILCVGLVVLDVISLVDKYPKEDSEIRCLSQRWQRGGNASNSCTVLSLLGAPCAFMGSMAPGHVAD 1 - 70 FLVADFRRRGVDVSQVAWQSKGDTPSSCCIINNSNGNRTIVLHDTSLPDVSATDFEKVDLTQFKWIHIEG 71 - 140 RNASEQVKMLQRIDAHNTRQPPEQKIRVSVEVEKPREELFQLFGYGDVVFVSKDVAKHLGFQSAEEALRG 141 - 210 LYGRVRKGAVLVCAWAEEGADALGPDGKLLHSDAFPPPRVVDTLGAGDTFNASVIFSLSQGRSVQEALRF 211 - 280 GCQVAGKKCGLQGFDGIV 281 - 298 //
| 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. |
| More... |
