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Aliases for KHK Gene

Aliases for KHK Gene

  • Ketohexokinase (Fructokinase) 2 3
  • Hepatic Fructokinase 3 4
  • Ketohexokinase 3
  • EC 2.7.1.3 4

External Ids for KHK Gene

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 (Fructokinase)) is a Protein Coding gene. Diseases associated with KHK include fructosuria and fructosuria, essential. Among its related pathways are Metabolism and Metabolism.

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

Genomic Location for KHK Gene

Start:
27,086,743 bp from pter
End:
27,100,772 bp from pter
Size:
14,030 bases
Orientation:
Plus strand

Genomic View for KHK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KHK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHK Gene

Regulatory Elements for KHK Gene

Proteins for KHK Gene

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

    Protein Symbol:
    P50053-KHK_HUMAN
    Recommended name:
    Ketohexokinase
    Protein Accession:
    P50053
    Secondary Accessions:
    • Q6IBK2
    • Q99532
    • Q9BRJ3
    • Q9UMN1

    Protein attributes for KHK Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for KHK Gene

Proteomics data for KHK Gene at MOPED

Post-translational modifications for KHK Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys134

Other Protein References for KHK Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KHK Gene

Domains for KHK Gene

Protein Domains for KHK Gene

UniProtKB/Swiss-Prot:

KHK_HUMAN
Family:
  • Belongs to the carbohydrate kinase PfkB family.:
    • P50053
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

Gene Ontology (GO) - Molecular Function for KHK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004454 ketohexokinase activity IDA 22371574
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0008865 fructokinase activity IDA 12941785
genes like me logo Genes that share ontologies with KHK: view
genes like me logo Genes that share phenotypes with KHK: view

miRNA for KHK Gene

miRTarBase miRNAs that target KHK

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for KHK Gene

Localization for KHK Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KHK Gene COMPARTMENTS Subcellular localization image for KHK gene
Compartment Confidence
cytosol 4
extracellular 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for KHK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with KHK: view

Pathways 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:0006001 fructose catabolic process --
GO:0044281 small molecule metabolic process TAS --
GO:0046835 carbohydrate phosphorylation TAS 7833921
genes like me logo Genes that share ontologies with KHK: view

Compounds for KHK Gene

(5) HMDB Compounds for KHK Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
D-Fructose
  • Beta-d-arabino-hexulose
53188-23-1
D-Xylulose 1-phosphate
  • 1-phosphate-D-threo-Pentulose
63323-91-1
Fructose 1-phosphate
  • D-fructose-1-P
15978-08-2

(3) Novoseek inferred chemical compound relationships for KHK Gene

Compound -log(P) Hits PubMed IDs
fructose 1-phosphate 94.1 4
fructose 83.1 15
atp 27.3 1
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: - -
SP8:

Relevant External Links for KHK Gene

GeneLoc Exon Structure for
KHK
ECgene alternative splicing isoforms for
KHK

Expression for KHK Gene

mRNA expression in normal human tissues for KHK Gene

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

This gene is overexpressed in Liver (18.2), Kidney - Cortex (9.8), and Small Intestine - Terminal Ileum (4.8).

Integrated Proteomics: protein expression 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

P50053-KHK_HUMAN
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 expressions with KHK: view

Orthologs for KHK Gene

This gene was present in the common ancestor of animals.

Orthologs for KHK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KHK 36
  • 99.55 (n)
  • 99.66 (a)
KHK 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KHK 36
  • 87.58 (n)
  • 88.59 (a)
KHK 37
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KHK 36
  • 80.43 (n)
  • 78.52 (a)
KHK 37
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Khk 36
  • 81.21 (n)
  • 80.54 (a)
Khk 16
Khk 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KHK 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KHK 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Khk 36
  • 81.77 (n)
  • 79.53 (a)
lizard
(Anolis carolinensis)
Reptilia KHK 37
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia khk 36
  • 67.66 (n)
  • 69.31 (a)
zebrafish
(Danio rerio)
Actinopterygii khk 36
  • 64.88 (n)
  • 64.43 (a)
khk 37
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002483 36
  • 50.79 (n)
  • 43.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12289 37
  • 24 (a)
OneToMany
CG7328 37
  • 34 (a)
OneToMany
CG7335 37
  • 22 (a)
OneToMany
CG7551 37
  • 32 (a)
OneToMany
CG12289 38
  • 30 (a)
CG7328 38
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 35 (a)
OneToMany
-- 37
  • 37 (a)
OneToMany
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

ENSEMBL:
Gene Tree for KHK (if available)
TreeFam:
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 MAF
rs1063550 -- 27,094,859(+) GCAGA(A/C/G)CAAGG intron-variant, missense, reference
rs1063551 -- 27,094,877(+) CCCCA(G/T)CTCCT intron-variant, reference, missense
rs1063552 -- 27,094,879(+) CCAGC(G/T)CCTGC intron-variant, missense, reference
rs1063553 -- 27,094,884(+) TCCTG(C/G)TGCAT intron-variant, reference, missense
rs1063554 -- 27,094,904(+) CTCCA(A/G)TGGCA 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

Relevant External Links for KHK Gene

HapMap Linkage Disequilibrium report
KHK
Human Gene Mutation Database (HGMD)
KHK

Disorders for KHK Gene

(1) OMIM Diseases for KHK Gene (614058)

UniProtKB/Swiss-Prot

KHK_HUMAN
  • 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.

(3) Novoseek inferred disease relationships for KHK Gene

Disease -log(P) Hits PubMed IDs
carcinoma renal cell 27.3 1
tumors 0 2
cancer 0 1

Genatlas disease for KHK Gene

fructosuria

Relevant External Links for KHK

Genetic Association Database (GAD)
KHK
Human Genome Epidemiology (HuGE) Navigator
KHK
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
  2. 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 4 23
  3. Structures of alternatively spliced isoforms of human ketohexokinase. (PMID: 19237742) Trinh C.H. … Phillips S.E. (Acta Crystallogr. D 2009) 3 4 23
  4. Structure and alternative splicing of the ketohexokinase gene. (PMID: 9799106) Hayward B.E. … Bonthron D.T. (Eur. J. Biochem. 1998) 3 4 23
  5. 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

Products for KHK Gene

  • Addgene plasmids for KHK

Sources for KHK Gene

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