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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 Glycosaminoglycan metabolism and Metabolism. Gene Ontology (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.

Additional gene information for KHK Gene

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

Genomics for KHK Gene

GeneHancer (GH) Regulatory Elements for KHK Gene

Promoters and enhancers for KHK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I027085 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 587 +0.7 743 4.8 HDGF CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 KHK GC02M027085 SNX17 ATRAID GTF3C2 NRBP1 TMEM214 CAD LOC105374363 GPN1
GH02I027069 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 34.4 -10.2 -10249 14.9 CLOCK MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 E2F8 ZNF143 MCM3 EMILIN1 OST4 CAD GTF3C2 SNX17 NRBP1 LOC105374363 GPN1 KHK TMEM214
GH02I027031 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 43.4 -53.6 -53580 2.7 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF766 ZNF207 GC02M027029 TMEM214 KHK EMILIN1 SLC5A6 ATRAID AGBL5
GH02I026970 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 38.4 -115.1 -115116 2.9 HDGF PKNOX1 CLOCK ARID4B SIN3A IRF4 ZNF48 E2F8 ZNF207 ZNF143 MAPRE3 KHK LOC100129724 LOC105374337 AGBL5 AGBL5-AS1 DPYSL5 EMILIN1 ATRAID SLC5A6
GH02I027049 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 33.2 -35.7 -35674 3.2 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 AGBL5-AS1 GC02P027055 PIR54422 PIR59385 TRY-GTA2-1 AGBL5 IFT172 SUPT7L ZNF512 CAD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KHK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KHK gene promoter:

Genomic Locations for KHK Gene

Genomic Locations for KHK Gene
chr2:27,086,743-27,100,772
(GRCh38/hg38)
Size:
14,030 bases
Orientation:
Plus strand
chr2:27,309,611-27,323,640
(GRCh37/hg19)

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

No data available for DME Specific Peptides for KHK Gene

Domains & Families for KHK Gene

Gene Families for KHK Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog for KHK Gene

Gene Ontology (GO) - Molecular Function for KHK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004454 ketohexokinase activity IDA,IEA 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

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

Clone Products

  • Addgene plasmids for KHK

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KHK Gene

Localization for KHK Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KHK gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)

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,HDA 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist 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

Clone Products

  • Addgene plasmids for KHK

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 CGAP 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.

Evidence on tissue expression from TISSUES for KHK Gene

  • Liver(4.7)
  • Lung(4.1)
  • Kidney(2.8)
  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with KHK: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KHK Gene

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 33 34
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia KHK 33 34
  • 87.58 (n)
oppossum
(Monodelphis domestica)
Mammalia KHK 34
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Khk 33
  • 81.77 (n)
mouse
(Mus musculus)
Mammalia Khk 33 16 34
  • 81.21 (n)
dog
(Canis familiaris)
Mammalia KHK 33 34
  • 80.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KHK 34
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KHK 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia khk 33
  • 67.66 (n)
zebrafish
(Danio rerio)
Actinopterygii khk 33 34
  • 64.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002483 33
  • 50.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7328 35 34
  • 35 (a)
CG7551 34
  • 32 (a)
OneToMany
CG12289 35 34
  • 30 (a)
CG7335 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToMany
-- 34
  • 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 Variation AA Info Type
rs104893643 affects, Fructosuria, essential, Fructosuria (FRUCT) [MIM:229800] 27,092,357(+) G/A/C coding_sequence_variant, intron_variant, missense_variant
rs104893644 affects, Fructosuria, essential, Fructosuria (FRUCT) [MIM:229800] 27,092,366(+) G/A coding_sequence_variant, intron_variant, missense_variant
rs112920456 uncertain-significance, Fructosuria, essential 27,092,398(+) C/G/T coding_sequence_variant, intron_variant, synonymous_variant
rs1131375 benign, Fructosuria, essential 27,100,517(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs113859516 likely-benign, Fructosuria, essential 27,100,556(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant

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)

Additional Variant Information 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: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
fructosuria, essential
  • hepatic fructokinase deficiency
fructose-1,6-bisphosphatase deficiency
  • fbp1d
- 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

Additional Disease Information for KHK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 DT … Steinmann B (Human molecular genetics 1994) 2 3 4 22 58
  2. Structures of alternatively spliced isoforms of human ketohexokinase. (PMID: 19237742) Trinh CH … Phillips SE (Acta crystallographica. Section D, Biological crystallography 2009) 3 4 22 58
  3. Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria. (PMID: 12941785) Asipu A … Bonthron DT (Diabetes 2003) 3 4 22 58
  4. Structure and alternative splicing of the ketohexokinase gene. (PMID: 9799106) Hayward BE … Bonthron DT (European journal of biochemistry 1998) 3 4 22 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for KHK Gene

Sources for KHK Gene

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