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Aliases for KHK Gene

Aliases for KHK Gene

  • Ketohexokinase 2 3 3 5
  • Hepatic Fructokinase 3 4
  • Fructokinase 2 3
  • Testicular Tissue Protein Li 102 3
  • Ketohexokinase (Fructokinase) 2
  • EC 2.7.1.3 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 Fructose-1,6-Bisphosphatase Deficiency. Among its related pathways are Metabolism and Fructose 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F027062 0.9 ENCODE 43.9 -23.4 -23412 2.0 HDAC1 PKNOX1 ARNT TBL1XR1 NFRKB GATA2 SMARCA5 NCOA1 ZEB2 SMARCB1 KHK ATRAID SLC5A6 LOC100129724 MAPRE3 LOC105374337 TRIM54 UCN MPV17 ZNF512
GH02F027031 0.9 ENCODE 43.4 -53.6 -53581 2.7 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 KHK EMILIN1 GPN1 CAD LOC105374363 NRBP1 GTF3C2-AS1 SLC5A6 ATRAID SNX17
GH02F026970 0.9 FANTOM5 ENCODE 38.4 -115.1 -115116 2.9 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 ZNF48 YY1 ZNF207 ZNF263 KHK LOC100129724 LOC105374337 AGBL5 AGBL5-AS1 DPYSL5 EMILIN1 ATRAID SLC5A6 MAPRE3
GH02F026973 1 Ensembl ENCODE 38.1 -112.0 -112047 1.4 HDAC1 TBL1XR1 GATA2 CREM ZBTB2 ZEB2 SSRP1 KLF16 SMARCA4 IKZF1 KHK LOC100129724 LOC105374337 AGBL5 AGBL5-AS1 DPYSL5 EMILIN1 ATRAID SLC5A6 MAPRE3
GH02F027085 1.1 Ensembl ENCODE 37 +0.7 744 4.8 HDGF CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 KHK SLC5A6 ATRAID ABHD1 CGREF1 PREB TRIM54 UCN MPV17 LOC100129724
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000587043 -43 2200 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 FOS

Genomic Location for KHK Gene

Chromosome:
2
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

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:
    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

Post-translational modifications for KHK Gene

  • Ubiquitination at Lys 134
  • Modification sites at PhosphoSitePlus

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

P50053

UniProtKB/Swiss-Prot:

KHK_HUMAN :
  • Belongs to the carbohydrate kinase PfkB family.
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

Gene Ontology (GO) - Molecular Function for KHK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004454 ketohexokinase activity IDA,TAS 12941785
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with KHK: view
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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 5
extracellular 5
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for KHK Gene

GO ID Qualified GO term Evidence PubMed IDs
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

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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 IEA --
GO:0006000 fructose metabolic process IEA --
GO:0009744 response to sucrose IEA --
GO:0009749 response to glucose IEA --
GO:0009750 response to fructose 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
15978-08-2
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
53188-23-1
D-fructose 1-phosphate
D-Xylulose 1-phosphate
  • 1-(Dihydrogen phosphate) D-threo-Pentulose
  • 1-Phosphate-D-threo-Pentulose
63323-91-1
genes like me logo Genes that share compounds with KHK: view

Transcripts for KHK Gene

Unigene Clusters for KHK Gene

Ketohexokinase (fructokinase):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for KHK Gene



Protein tissue co-expression partners for KHK Gene

NURSA nuclear receptor signaling pathways regulating expression of KHK Gene:

KHK

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 expression patterns with KHK: view

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
chimpanzee
(Pan troglodytes)
Mammalia KHK 34 35
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia KHK 34 35
  • 87.58 (n)
oppossum
(Monodelphis domestica)
Mammalia KHK 35
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Khk 34
  • 81.77 (n)
mouse
(Mus musculus)
Mammalia Khk 34 16 35
  • 81.21 (n)
dog
(Canis familiaris)
Mammalia KHK 34 35
  • 80.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KHK 35
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KHK 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia khk 34
  • 67.66 (n)
zebrafish
(Danio rerio)
Actinopterygii khk 34 35
  • 64.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002483 34
  • 50.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7328 36 35
  • 35 (a)
CG7551 35
  • 32 (a)
OneToMany
CG12289 36 35
  • 30 (a)
CG7335 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
Species where no ortholog for KHK was found in the sources mined by GeneCards:
  • 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
rs104893643 Fructosuria (FRUCT) [MIM:229800], other 27,092,357(+) AGCGC(A/G)GAGGC intron-variant, reference, missense
rs104893644 Fructosuria (FRUCT) [MIM:229800], other 27,092,366(+) GCAAC(A/G)CGTCC intron-variant, reference, missense
rs10185736 -- 27,098,356(+) GTCTC(C/T)ATGAA intron-variant, downstream-variant-500B
rs1057394 -- 27,101,168(-) CCCTG(C/T)CTGGT intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1057396 -- 27,101,139(-) TTTCT(A/G)TGCAG intron-variant, downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv6744n54 CNV loss 21841781
esv2673470 CNV deletion 23128226
esv3590133 CNV loss 21293372
nsv455974 CNV loss 19166990
nsv817673 CNV gain 17921354
nsv833603 CNV loss 17160897

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)
KHK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KHK

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

Disorders for KHK Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fructosuria, essential
  • 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

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.

Genatlas disease for KHK Gene

fructosuria

Relevant External Links for KHK

Genetic Association Database (GAD)
KHK
Human Genome Epidemiology (HuGE) Navigator
KHK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. Structures of alternatively spliced isoforms of human ketohexokinase. (PMID: 19237742) Trinh C.H. … Phillips S.E. (Acta Crystallogr. D 2009) 3 4 22 64
  3. 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 22 64
  4. Structure and alternative splicing of the ketohexokinase gene. (PMID: 9799106) Hayward B.E. … Bonthron D.T. (Eur. J. Biochem. 1998) 3 4 22 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for KHK Gene

Sources for KHK Gene

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