• Gene id: 3795

Gene Summary

• Gene Symbol: KHK   Gene   UCSC   Ensembl
• Gene name: ketohexokinase
• Alternate names: ketohexokinase, fructokinase, hepatic fructokinase, testicular tissue protein Li 102,
• Gene location: 2p23.3 (27086759: 27100761)     Exons: 9     NC_000002.12
• Gene summary(Entrez): 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 d
• OMIM: 614058

Protein Summary

• Protein general information: P50053  
  • Name: Ketohexokinase (EC 2.7.1.3) (Hepatic fructokinase)
  • Length: 298  
  • Mass: 32523
  • Tissue specificity: Most abundant in liver, kidney, gut, spleen and pancreas. Low levels also found in adrenal, muscle, brain and eye. {ECO
• Sequence:

  MEEKQILCVGLVVLDVISLVDKYPKEDSEIRCLSQRWQRGGNASNSCTVLSLLGAPCAFMGSMAPGHVADFLVAD
  FRRRGVDVSQVAWQSKGDTPSSCCIINNSNGNRTIVLHDTSLPDVSATDFEKVDLTQFKWIHIEGRNASEQVKML
  QRIDAHNTRQPPEQKIRVSVEVEKPREELFQLFGYGDVVFVSKDVAKHLGFQSAEEALRGLYGRVRKGAVLVCAW
  AEEGADALGPDGKLLHSDAFPPPRVVDTLGAGDTFNASVIFSLSQGRSVQEALRFGCQVAGKKCGLQGFDGIV

• Structural information:
  • Interpro: IPR034093  IPR011611  IPR029056  
  • CDD: cd01939
  • PDB: 2HLZ 2HQQ 2HW1 3B3L 3NBV 3NBW 3NC2 3NC9 3NCA 3Q92 3QA2 3QAI 3RO4 5WBM 5WBO 5WBP 5WBQ 5WBR 5WBZ
  • PDBsum: 2HLZ 2HQQ 2HW1 3B3L 3NBV 3NBW 3NC2 3NC9 3NCA 3Q92 3QA2 3QAI 3RO4 5WBM 5WBO 5WBP 5WBQ 5WBR 5WBZ
  • DIP: 50184
  • STRING: ENSP00000260599
• Other Databases: GeneCards:  KHK  Malacards:  KHK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032868	response to insulin	IBA	biological process
GO:0019200	carbohydrate kinase activity	IBA	molecular function
GO:0010043	response to zinc ion	IBA	biological process
GO:0009750	response to fructose	IBA	biological process
GO:0009749	response to glucose	IBA	biological process
GO:0006000	fructose metabolic process	IBA	biological process
GO:0004454	ketohexokinase activity	IBA	molecular function
GO:0070873	regulation of glycogen metabolic process	IBA	biological process
GO:0009744	response to sucrose	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004454	ketohexokinase activity	IDA	molecular function
GO:0004454	ketohexokinase activity	IEA	molecular function
GO:0006000	fructose metabolic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004454	ketohexokinase activity	TAS	molecular function
GO:0004454	ketohexokinase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0061624	fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0009744	response to sucrose	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0009750	response to fructose	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0006000	fructose metabolic process	IEA	biological process
GO:0004454	ketohexokinase activity	IEA	molecular function
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0006000	fructose metabolic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00051	Fructose and mannose metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq