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Aliases for KHK Gene

Aliases for KHK Gene

  • Ketohexokinase 2 3 5
  • Ketohexokinase (Fructokinase) 2 3
  • Hepatic Fructokinase 3 4
  • Fructokinase 2 3
  • Testicular Tissue Protein Li 102 3
  • EC 4

External Ids for KHK Gene

Previous GeneCards Identifiers for KHK Gene

  • GC02P027231
  • GC02P027402
  • GC02P027267
  • GC02P027284
  • GC02P027221
  • GC02P027309
  • GC02P027051

Summaries for KHK Gene

Entrez Gene Summary for KHK Gene

  • 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]

GeneCards Summary for KHK Gene

KHK (Ketohexokinase) is a Protein Coding gene. Diseases associated with KHK include Fructosuria, Essential and Fructosuria. Among its related pathways are Fructose metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include fructokinase activity and ketohexokinase activity.

UniProtKB/Swiss-Prot for KHK Gene

  • Catalyzes the phosphorylation of the ketose sugar fructose to fructose-1-phosphate.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KHK Gene

Genomics for KHK Gene

Regulatory Elements for KHK Gene

Enhancers for KHK Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KHK on UCSC Golden Path with GeneCards custom track

Promoters for KHK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KHK on UCSC Golden Path with GeneCards custom track

Genomic Location for KHK Gene

27,086,743 bp from pter
27,100,772 bp from pter
14,030 bases
Plus strand

Genomic View for KHK Gene

Genes around KHK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KHK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KHK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHK Gene

Proteins for KHK Gene

  • Protein details for KHK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q6IBK2
    • Q99532
    • Q9BRJ3
    • Q9UMN1

    Protein attributes for KHK Gene

    298 amino acids
    Molecular mass:
    32523 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for KHK Gene

    Alternative splice isoforms for KHK Gene


neXtProt entry for KHK Gene

Proteomics data for KHK Gene at MOPED

Post-translational modifications for KHK Gene

  • Ubiquitination at Lys 134
  • Modification sites at PhosphoSitePlus

Other Protein References for KHK Gene

No data available for DME Specific Peptides for KHK Gene

Domains & Families for KHK Gene

Protein Domains for KHK Gene

Suggested Antigen Peptide Sequences for KHK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the carbohydrate kinase PfkB family.
  • Belongs to the carbohydrate kinase PfkB family.
genes like me logo Genes that share domains with KHK: view

No data available for Gene Families for KHK Gene

Function for KHK Gene

Molecular function for KHK Gene

GENATLAS Biochemistry:
ketohexokinase,fructose metabolism,energy pathway,expressed in liver,renal cortex and small intestine
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.8 mM for D-fructose (at 25 degrees Celsius) {ECO:0000269 PubMed:12941785}; KM=0.15 mM for Mg-ATP (at 25 degrees Celsius) {ECO:0000269 PubMed:12941785}; Note=kcat is 7.6 sec(-1). {ECO:0000269 PubMed:12941785};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-fructose = ADP + D-fructose 1-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Requires potassium. Inhibition by ADP.
UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of the ketose sugar fructose to fructose-1-phosphate.

Enzyme Numbers (IUBMB) for KHK Gene

genes like me logo Genes that share phenotypes with KHK: view

Human Phenotype Ontology for KHK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KHK Gene

MGI Knock Outs for KHK:

Animal Model Products

miRNA for KHK Gene

miRTarBase miRNAs that target KHK

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KHK Gene

Localization for KHK Gene

Subcellular locations from

Jensen Localization Image for KHK Gene COMPARTMENTS Subcellular localization image for KHK gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 2
plasma membrane 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KHK Gene

Pathways & Interactions for KHK Gene

genes like me logo Genes that share pathways with KHK: view

Pathways by source for KHK Gene

2 BioSystems pathways for KHK Gene

UniProtKB/Swiss-Prot P50053-KHK_HUMAN

  • Pathway: Carbohydrate metabolism; fructose metabolism.

Gene Ontology (GO) - Biological Process for KHK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006000 fructose metabolic process TAS --
GO:0009744 response to sucrose IEA --
GO:0009750 response to fructose IEA --
GO:0010043 response to zinc ion IEA --
genes like me logo Genes that share ontologies with KHK: view

No data available for SIGNOR curated interactions for KHK Gene

Drugs & Compounds for KHK Gene

(3) Drugs for KHK Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(7) Additional Compounds for KHK Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
fructose 1-phosphate
  • D-Fructose 1-phosphate
  • D-Fructose-1-P
  • D-Fructose-1-phosphate
  • Fructose 1-phosphate
  • Fructose-1-P
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
D-fructose 1-phosphate
D-Xylulose 1-phosphate
  • 1-(Dihydrogen phosphate) D-threo-Pentulose
  • 1-Phosphate-D-threo-Pentulose
genes like me logo Genes that share compounds with KHK: view

Transcripts for KHK Gene

Unigene Clusters for KHK Gene

Ketohexokinase (fructokinase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KHK Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1: - - -
SP2: - - -
SP3: - - - - -
SP4: - -
SP5: - - -
SP6: - - - -
SP7: - -

Relevant External Links for KHK Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KHK Gene

mRNA expression in normal human tissues for KHK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KHK Gene

This gene is overexpressed in Liver (x18.2), Kidney - Cortex (x9.8), and Small Intestine - Terminal Ileum (x4.8).

Protein differential expression in normal tissues from HIPED for KHK Gene

This gene is overexpressed in Kidney (22.1), Liver, secretome (21.3), and Liver (16.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KHK Gene

SOURCE GeneReport for Unigene cluster for KHK Gene Hs.567297

mRNA Expression by UniProt/SwissProt for KHK Gene

Tissue specificity: Most abundant in liver, kidney, gut, spleen and pancreas. Low levels also found in adrenal, muscle, brain and eye.
genes like me logo Genes that share expression patterns with KHK: view

Protein tissue co-expression partners for KHK Gene

Primer Products

Orthologs for KHK Gene

This gene was present in the common ancestor of animals.

Orthologs for KHK Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia KHK 35
  • 87.58 (n)
  • 88.59 (a)
KHK 36
  • 74 (a)
(Canis familiaris)
Mammalia KHK 35
  • 80.43 (n)
  • 78.52 (a)
KHK 36
  • 73 (a)
(Mus musculus)
Mammalia Khk 35
  • 81.21 (n)
  • 80.54 (a)
Khk 16
Khk 36
  • 81 (a)
(Pan troglodytes)
Mammalia KHK 35
  • 99.55 (n)
  • 99.66 (a)
KHK 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Khk 35
  • 81.77 (n)
  • 79.53 (a)
(Monodelphis domestica)
Mammalia KHK 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia KHK 36
  • 79 (a)
(Anolis carolinensis)
Reptilia KHK 36
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia khk 35
  • 67.66 (n)
  • 69.31 (a)
(Danio rerio)
Actinopterygii khk 35
  • 64.88 (n)
  • 64.43 (a)
khk 36
  • 64 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12289 37
  • 30 (a)
CG7328 37
  • 35 (a)
CG12289 36
  • 24 (a)
CG7328 36
  • 34 (a)
CG7335 36
  • 22 (a)
CG7551 36
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002483 35
  • 50.79 (n)
  • 43.58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
-- 36
  • 37 (a)
Species with no ortholog for KHK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KHK Gene

Gene Tree for KHK (if available)
Gene Tree for KHK (if available)

Paralogs for KHK Gene

No data available for Paralogs for KHK Gene

Variants for KHK Gene

Sequence variations from dbSNP and Humsavar for KHK Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_006072 Fructosuria (FRUCT)
VAR_006073 Fructosuria (FRUCT)
rs2304681 - 27,092,384(+) GCACC(A/G)TTCTC intron-variant, reference, missense
rs1063550 -- 27,094,859(+) GCAGA(A/C/G)CAAGG intron-variant, reference, missense
rs1063551 -- 27,094,877(+) CCCCA(G/T)CTCCT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KHK Gene

Variant ID Type Subtype PubMed ID
nsv455974 CNV Loss 19166990
nsv817673 CNV Gain 17921354
nsv833603 CNV Loss 17160897
nsv873752 CNV Loss 21882294
esv2673470 CNV Deletion 23128226

Variation tolerance for KHK Gene

Residual Variation Intolerance Score: 84.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.98; 92.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KHK Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KHK Gene

Disorders for KHK Gene

MalaCards: The human disease database

(3) MalaCards diseases for KHK Gene - From: GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fructosuria, essential
  • ketohexokinase deficiency
  • essential benign fructosuria
fructose-1,6-bisphosphatase deficiency
  • fructose 1 phosphate aldolase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search KHK in MalaCards View complete list of genes associated with diseases


  • Fructosuria (FRUCT) [MIM:229800]: Benign defect of intermediary metabolism. {ECO:0000269 PubMed:12941785, ECO:0000269 PubMed:7833921}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for KHK Gene


Relevant External Links for KHK

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KHK: view

Publications for KHK Gene

  1. Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). (PMID: 7833921) Bonthron D.T. … Steinmann B. (Hum. Mol. Genet. 1994) 2 3 4 23 67
  2. Ketohexokinase-dependent metabolism of fructose induces proinflammatory mediators in proximal tubular cells. (PMID: 19158351) Cirillo P. … Sautin Y.Y. (J. Am. Soc. Nephrol. 2009) 3 23
  3. Structures of alternatively spliced isoforms of human ketohexokinase. (PMID: 19237742) Trinh C.H. … Phillips S.E. (Acta Crystallogr. D 2009) 3 23
  4. The expression of ketohexokinase is diminished in human clear cell type of renal cell carcinoma. (PMID: 16372272) Hwa J.S. … Kang K.R. (Proteomics 2006) 3 23
  5. Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria. (PMID: 12941785) Asipu A. … Bonthron D.T. (Diabetes 2003) 3 23

Products for KHK Gene

Sources for KHK Gene