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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KHK Gene

protein-coding   GIFtS: 61
GCID: GC02P027309

Ketohexokinase (Fructokinase)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ketohexokinase (Fructokinase)1 2
Hepatic Fructokinase2 3
ketohexokinase2
EC 2.7.1.33

External Ids:    HGNC: 63151   Entrez Gene: 37952   Ensembl: ENSG000001380307   OMIM: 6140585   UniProtKB: P500533   

Export aliases for KHK gene to outside databases

Previous GC identifers: GC02P027231 GC02P027402 GC02P027267 GC02P027284 GC02P027221 GC02P027051


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 obstructive jaundice, and among its related super-pathways are Fructose catabolism and Metabolic pathways. GO annotations related to this gene include ketohexokinase activity and ATP binding.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KHK gene promoter:
         ER-alpha   Pax-5   Meis-1b   C/EBPalpha   Arnt   PPAR-alpha   E2F-1   E2F   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKHK promoter sequence
   Search SABiosciences Chromatin IP Primers for KHK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KHK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3-p23.2

KHK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KHK gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P027309:  view genomic region     (about GC identifiers)

Start:
27,309,611 bp from pter      End:
27,323,640 bp from pter
Size:
14,030 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KHK_HUMAN, P50053 (See protein sequence)
Recommended Name: Ketohexokinase  
Size: 298 amino acids; 32730 Da
Subunit: Homodimer
6/13 PDB 3D structures from and Proteopedia for KHK (see all 13):
2HLZ (3D)        2HQQ (3D)        2HW1 (3D)        3B3L (3D)        3NBV (3D)        3NBW (3D)    
Secondary accessions: Q6IBK2 Q99532 Q9BRJ3 Q9UMN1
Alternative splicing: 2 isoforms:  P50053-1   P50053-2   (More widely distributed but with a low expression level)

Explore the universe of human proteins at neXtProt for KHK: NX_P50053

Explore proteomics data for KHK at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50053

  • KHK Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KHK Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000212.1  NP_006479.1  

    ENSEMBL proteins: 
     ENSP00000260599   ENSP00000260598   ENSP00000404741  
    Reactome Protein details: P50053
    Human Recombinant Protein Products for KHK: 
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    Novus Biologicals KHK Proteins
    Novus Biologicals KHK Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for KHK
    Cloud-Clone Corp. Proteins for KHK 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    KHK for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for KHK 
    Cloud-Clone Corp. CLIAs for KHK


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR011611 PfkB_dom

    Graphical View of Domain Structure for InterPro Entry P50053

    ProtoNet protein and cluster: P50053

    1 Blocks protein domain: IPB002173 Carbohydrate kinase

    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
    Similarity: Belongs to the carbohydrate kinase PfkB family


    KHK for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KHK_HUMAN, P50053
    Catalytic activity: ATP + D-fructose = ADP + D-fructose 1-phosphate
    Enzyme regulation: Requires potassium. Inhibition by ADP

         Genatlas biochemistry entry for KHK:
    ketohexokinase,fructose metabolism,energy pathway,expressed in liver,renal cortex and small intestine

         Enzyme Number (IUBMB): EC 2.7.1.31

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004454ketohexokinase activity EXP--
    GO:0005524ATP binding IEA--
         
    KHK for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KHK:
     Increased apoptosis  Increased cell death HMECs cel 

         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Khk):
     embryogenesis  homeostasis/metabolism  no phenotypic analysis  reproductive system 

    KHK for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KHK 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KHK 
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    hsa-miR-330-5p hsa-miR-320e hsa-miR-326 hsa-miR-2278
    SwitchGear 3'UTR luciferase reporter plasmidKHK 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KHK About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fructose catabolism
    Fructose catabolism0.50
    sucrose degradation V (mammalian)0.33
    Polyol pathway0.50
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48
    4Fructose and mannose metabolism
    Fructose and mannose metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for KHK
        Polyol pathway
    sucrose degradation V (mammalian)

    3        Reactome Pathways for KHK
        Metabolism of carbohydrates
    Metabolism
    Fructose catabolism


    2         Kegg Pathways  (Kegg details for KHK):
        Fructose and mannose metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
    Pathway: Carbohydrate metabolism; fructose metabolism


    KHK for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KHK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/29 Interacting proteins for KHK (P500531, 3 ENSP000002605984) via UniProtKB, MINT, STRING, and/or I2D (see all 29)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB1P494071, 3, ENSP000003771414EBI-1053974,EBI-743313 I2D: score=2 STRING: ENSP00000377141
    DEDDO756181, 3, ENSP000003569854EBI-1053974,EBI-1043164 I2D: score=2 STRING: ENSP00000356985
    LYZP616261, 3, ENSP000002612674EBI-1053974,EBI-355360 I2D: score=2 STRING: ENSP00000261267
    RNPS1Q152871, 3EBI-1053974,EBI-395959 I2D: score=2 
    LCN1P310251, 3, ENSP000002635984EBI-1053974,EBI-1052433 I2D: score=2 STRING: ENSP00000263598
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006001fructose catabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    KHK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KHK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KHK

    5 HMDB Compounds for KHK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    D-FructoseBeta-d-arabino-hexulose (see all 16)53188-23-1--
    D-Xylulose 1-phosphate1-phosphate-D-threo-Pentulose (see all 2)63323-91-1--
    Fructose 1-phosphateD-fructose-1-P (see all 7)15978-08-2--

    3 Novoseek inferred chemical compound relationships for KHK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fructose 1-phosphate 94.1 9 16372272 (1), 11264590 (1), 17510913 (1), 19237742 (1)
    fructose 83.1 29 19158351 (3), 11264590 (2), 18395287 (2), 19237742 (2) (see all 10)
    atp 27.3 4 19158351 (1)

    Search CenterWatch for drugs/clinical trials and news about KHK

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KHK gene (2 alternative transcripts): 
    NM_000221.2  NM_006488.2  

    Unigene Cluster for KHK:

    Ketohexokinase (fructokinase)
    Hs.567297  [show with all ESTs]
    Unigene Representative Sequence: NM_000221
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260599(uc002ril.2 uc002rio.2) ENST00000260598(uc002rim.2)
    ENST00000490823 ENST00000429697 ENST00000469936 ENST00000464371
    miRNA
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate KHK:
    hsa-miR-330-5p hsa-miR-320e hsa-miR-326 hsa-miR-2278
    SwitchGear 3'UTR luciferase reporter plasmidKHK 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK130033.1 AK223075.1 BC006233.2 BX648873.1 CR456801.1 X78677.1 X78678.1 

    7 DOTS entries:

    DT.447396  DT.97794122  DT.100839952  DT.95104826  DT.97851257  DT.95104793  DT.95104795 

    24/168 AceView cDNA sequences (see all 168):

    CR612248 CR608955 CB148802 CB138530 CB163714 BQ082087 CB148825 CB139063 
    AA342313 CR622392 NM_000221 CR610051 CB148348 CR618568 CB130067 CB137667 
    CB146948 AI347475 CR600808 NM_006488 BM745874 BQ064138 CR617023 CB134880 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for KHK (see all 8)    About this scheme

    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:                                      -           -     -                                                         


    ECgene alternative splicing isoforms for KHK

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KHK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KHK Expression
    About this image


    See KHK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KHK

    SOURCE GeneReport for Unigene cluster: Hs.567297

    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
    Tissue specificity: Most abundant in liver, kidney, gut, spleen and pancreas. Low levels also found in adrenal,
    muscle, brain and eye

        SABiosciences Expression via Pathway-Focused PCR Array including KHK: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KHK

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KHK gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Khk1 , 5 ketohexokinase1, 5 86.58(n)1
    87.25(a)1
      5 (16.90 cM)5
    165481  NM_008439.31  NP_032465.21 
     309215565 
    lizard
    (Anolis carolinensis)
    Reptilia KHK6
    Uncharacterized protein
    70(a)
    1 ↔ 1
    AAWZ02038918(434-4289)
    zebrafish
    (Danio rerio)
    Actinopterygii khk1 ketohexokinase 64.09(n)
    62.75(a)
      436909  NM_001002636.1  NP_001002636.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG73283 ketohexokinase 35(a)
    (best of 2)
      76F2   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/430 SNPs in KHK are shown (see all 430)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0060724
    Fructosuria (FRUCT)4--see VAR_0060722 G R mis40--------
    VAR_0060734
    Fructosuria (FRUCT)4--see VAR_0060732 A T mis40--------
    rs1048936431,2
    Cpathogenic127238288(+) AGCGCG/AGAGGC 4 /R /G mis11Minor allele frequency- A:0.00NA 4550
    rs1048936441,2
    Cpathogenic127238297(+) GCAACA/GCGTCC 4 T A mis10--------
    VAR_0060754
    ----see VAR_0060752 R G mis40--------
    rs129993121,2
    F--27056525(+) ccaaaC/Gtgctg 2 -- int11Minor allele frequency- G:0.00NA 2
    rs23046821,2
    C,F,H--27230830(-) GTGCTG/CGGTGC 2 -- us2k118Minor allele frequency- C:0.25EA NA NS WA CSA 2567
    rs1832130591,2
    --27230996(+) AGAGGC/TCCTCG 2 -- us2k10--------
    rs1505960621,2
    C,F--27231081(+) CCTTCC/ACACTC 2 -- us2k11Minor allele frequency- A:0.00EU 1297
    rs1133644681,2
    C,F--27231091(+) CAGGAG/CTGGAG 2 -- us2k12Minor allele frequency- C:0.00CSA NA 4548

    HapMap Linkage Disequilibrium report for KHK (27309611 - 27323640 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KHK:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2673470CNV Deletion23128226
    nsv833603CNV Loss17160897
    nsv873752CNV Loss21882294
    nsv455974CNV Loss19166990
    nsv817673CNV Gain17921354


    Human Gene Mutation Database (HGMD): KHK
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KHK
    DNA2.0 Custom Variant and Variant Library Synthesis for KHK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614058    OMIM disorders: --

    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
  • Fructosuria (FRUCT) [MIM:229800]: Benign defect of intermediary metabolism. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 12 diseases for KHK:    About MalaCards
    fructosuria    obstructive jaundice    fructosuria, essential    jaundice
    hepatitis    fatty liver disease    renal clear cell carcinoma    liver disease
    renal cell carcinoma    hepatitis c    alcoholism    hepatocellular carcinoma


    KHK for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for KHK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma renal cell 27.3 1 16372272 (1)
    tumors 0 2 16372272 (2)
    cancer 0 1 16372272 (1)

    Genatlas disease: KHK
    fructosuria

    Genetic Association Database (GAD): KHK
    Human Genome Epidemiology (HuGE) Navigator: KHK (3 documents)

    Export disorders for KHK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KHK gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with KHK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). (PubMed id 7833921)1, 2, 3, 9 Bonthron D.T.... Steinmann B. (1994)
    2. Structures of alternatively spliced isoforms of human ketohexokinase. (PubMed id 19237742)1, 2, 9 Trinh C.H....Phillips S.E. (2009)
    3. Structure and alternative splicing of the ketohexokinase gene. (PubMed id 9799106)1, 2, 9 Hayward B.E. and Bonthron D.T. (1998)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23. (PubMed id 8662230)1, 9 Hayward B.E....Bonthron D.T. (1996)
    7. The expression of ketohexokinase is diminished in human clear cell type of renal cell carcinoma. (PubMed id 16372272)1, 9 Hwa J.S....Kang K.R. (2006)
    8. Ketohexokinase-dependent metabolism of fructose induces proinflammatory mediators in proximal tubular cells. (PubMed id 19158351)1, 9 Cirillo P....Sautin Y.Y. (2009)
    9. Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria. (PubMed id 12941785)1, 9 Asipu A....Bonthron D.T. (2003)
    10. Impact of genetic polymorphisms of SLC2A2, SLC2A5, and KHK on metabolic phenotypes in hypertensive individuals. (PubMed id 23341889)1 Le M.T....Johnson J.A. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3795 HGNC: 6315 AceView: KHK Ensembl:ENSG00000138030 euGenes: HUgn3795
    ECgene: KHK Kegg: 3795 H-InvDB: KHK

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KHK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KHK gene:
    Search GeneIP for patents involving KHK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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