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    KHK ketohexokinase [ Homo sapiens (human) ]

    Gene ID: 3795, updated on 17-Jun-2024

    Summary

    Official Symbol
    KHKprovided by HGNC
    Official Full Name
    ketohexokinaseprovided by HGNC
    Primary source
    HGNC:HGNC:6315
    See related
    Ensembl:ENSG00000138030 MIM:614058; AllianceGenome:HGNC:6315
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FRUCTU
    Summary
    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]
    Expression
    Biased expression in kidney (RPKM 77.2), liver (RPKM 59.5) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KHK in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27086772..27100762)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27128445..27142438)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27309640..27323630)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene AGBL carboxypeptidase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27300904-27301682 Neighboring gene oligosaccharyltransferase complex subunit 4, non-catalytic Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15488 Neighboring gene elastin microfibril interfacer 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27315477-27316062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27316063-27316648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27321908-27322751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27324357-27324857 Neighboring gene uncharacterized LOC124907744 Neighboring gene cell growth regulator with EF-hand domain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27340928-27341428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27341429-27341929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11286 Neighboring gene abhydrolase domain containing 1 Neighboring gene prolactin regulatory element binding

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ketohexokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ketohexokinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fructose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fructose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of glycogen metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to fructose IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to glucose IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to insulin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to sucrose IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to zinc ion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    ketohexokinase
    Names
    fructokinase
    hepatic fructokinase
    testicular tissue protein Li 102
    NP_000212.1
    NP_006479.1
    XP_005264351.1
    XP_005264353.1
    XP_005264355.1
    XP_006712071.1
    XP_006712072.1
    XP_006712073.1
    XP_006712074.1
    XP_006712075.1
    XP_006712076.1
    XP_006712077.1
    XP_016859549.1
    XP_016859550.1
    XP_054197919.1
    XP_054197920.1
    XP_054197921.1
    XP_054197922.1
    XP_054197923.1
    XP_054197924.1
    XP_054197925.1
    XP_054197926.1
    XP_054197927.1
    XP_054197928.1
    XP_054197929.1
    XP_054197930.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012199.2 RefSeqGene

      Range
      5030..19020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000221.3NP_000212.1  ketohexokinase isoform a

      See identical proteins and their annotated locations for NP_000212.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant utilizes the alternate exon 3a and encodes isoform a, which exhibits lower enzymatic activity than isoform b.
      Source sequence(s)
      AC013403
      Consensus CDS
      CCDS1734.1
      UniProtKB/TrEMBL
      A0A140VJM6, Q53G56
      Related
      ENSP00000260599.6, ENST00000260599.11
      Conserved Domains (1) summary
      cd01939
      Location:5295
      Ketohexokinase; Ketohexokinase (fructokinase, KHK) catalyzes the phosphorylation of fructose to fructose-1-phosphate (F1P), the first step in the metabolism of dietary fructose. KHK can also phosphorylate several other furanose sugars. It is found in higher eukaryotes ...
    2. NM_006488.3NP_006479.1  ketohexokinase isoform b

      See identical proteins and their annotated locations for NP_006479.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant utilizes the alternate exon 3c and encodes isoform b, which exhibits higher enzymatic activity than isoform a.
      Source sequence(s)
      AC013403
      Consensus CDS
      CCDS1735.1
      UniProtKB/Swiss-Prot
      P50053, Q6IBK2, Q99532, Q9BRJ3, Q9UMN1
      Related
      ENSP00000260598.5, ENST00000260598.10
      Conserved Domains (1) summary
      cd01939
      Location:5295
      Ketohexokinase; Ketohexokinase (fructokinase, KHK) catalyzes the phosphorylation of fructose to fructose-1-phosphate (F1P), the first step in the metabolism of dietary fructose. KHK can also phosphorylate several other furanose sugars. It is found in higher eukaryotes ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27086772..27100762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264294.5XP_005264351.1  ketohexokinase isoform X3

      UniProtKB/TrEMBL
      Q53G56
      Conserved Domains (1) summary
      cd01939
      Location:5341
      Ketohexokinase; Ketohexokinase (fructokinase, KHK) catalyzes the phosphorylation of fructose to fructose-1-phosphate (F1P), the first step in the metabolism of dietary fructose. KHK can also phosphorylate several other furanose sugars. It is found in higher eukaryotes ...
    2. XM_005264296.5XP_005264353.1  ketohexokinase isoform X8

      UniProtKB/TrEMBL
      Q53G56
      Conserved Domains (1) summary
      cd01939
      Location:5296
      Ketohexokinase; Ketohexokinase (fructokinase, KHK) catalyzes the phosphorylation of fructose to fructose-1-phosphate (F1P), the first step in the metabolism of dietary fructose. KHK can also phosphorylate several other furanose sugars. It is found in higher eukaryotes ...
    3. XM_017004060.3XP_016859549.1  ketohexokinase isoform X4

      UniProtKB/TrEMBL
      C9JDL1, Q53G56
      Related
      ENSP00000404741.2, ENST00000429697.2
    4. XM_017004061.3XP_016859550.1  ketohexokinase isoform X10

      UniProtKB/TrEMBL
      Q53G56
    5. XM_005264298.5XP_005264355.1  ketohexokinase isoform X12

      See identical proteins and their annotated locations for XP_005264355.1

      Conserved Domains (1) summary
      cd01939
      Location:5211
      Ketohexokinase; Ketohexokinase (fructokinase, KHK) catalyzes the phosphorylation of fructose to fructose-1-phosphate (F1P), the first step in the metabolism of dietary fructose. KHK can also phosphorylate several other furanose sugars. It is found in higher eukaryotes ...
    6. XM_006712008.5XP_006712071.1  ketohexokinase isoform X1

      Conserved Domains (1) summary
      cl00192
      Location:5235
      ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...
    7. XM_006712010.5XP_006712073.1  ketohexokinase isoform X5

      Conserved Domains (1) summary
      cd01939
      Location:5190
      Ketohexokinase; Ketohexokinase (fructokinase, KHK) catalyzes the phosphorylation of fructose to fructose-1-phosphate (F1P), the first step in the metabolism of dietary fructose. KHK can also phosphorylate several other furanose sugars. It is found in higher eukaryotes ...
    8. XM_006712009.5XP_006712072.1  ketohexokinase isoform X2

      Conserved Domains (1) summary
      cl00192
      Location:5234
      ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...
    9. XM_006712012.5XP_006712075.1  ketohexokinase isoform X7

      Conserved Domains (1) summary
      cd01939
      Location:5189
      Ketohexokinase; Ketohexokinase (fructokinase, KHK) catalyzes the phosphorylation of fructose to fructose-1-phosphate (F1P), the first step in the metabolism of dietary fructose. KHK can also phosphorylate several other furanose sugars. It is found in higher eukaryotes ...
    10. XM_006712011.5XP_006712074.1  ketohexokinase isoform X6

      Conserved Domains (1) summary
      cd01939
      Location:5189
      Ketohexokinase; Ketohexokinase (fructokinase, KHK) catalyzes the phosphorylation of fructose to fructose-1-phosphate (F1P), the first step in the metabolism of dietary fructose. KHK can also phosphorylate several other furanose sugars. It is found in higher eukaryotes ...
    11. XM_006712013.5XP_006712076.1  ketohexokinase isoform X9

      Conserved Domains (1) summary
      cl00192
      Location:5144
      ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...
    12. XM_006712014.5XP_006712077.1  ketohexokinase isoform X11

      Conserved Domains (1) summary
      cl00192
      Location:5105
      ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27128445..27142438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341946.1XP_054197921.1  ketohexokinase isoform X3

      UniProtKB/TrEMBL
      Q53G56
    2. XM_054341951.1XP_054197926.1  ketohexokinase isoform X8

      UniProtKB/TrEMBL
      Q53G56
    3. XM_054341947.1XP_054197922.1  ketohexokinase isoform X4

      UniProtKB/TrEMBL
      C9JDL1, Q53G56
    4. XM_054341953.1XP_054197928.1  ketohexokinase isoform X10

      UniProtKB/TrEMBL
      Q53G56
    5. XM_054341955.1XP_054197930.1  ketohexokinase isoform X12

    6. XM_054341944.1XP_054197919.1  ketohexokinase isoform X1

    7. XM_054341948.1XP_054197923.1  ketohexokinase isoform X5

    8. XM_054341945.1XP_054197920.1  ketohexokinase isoform X2

    9. XM_054341950.1XP_054197925.1  ketohexokinase isoform X7

    10. XM_054341949.1XP_054197924.1  ketohexokinase isoform X6

    11. XM_054341952.1XP_054197927.1  ketohexokinase isoform X9

    12. XM_054341954.1XP_054197929.1  ketohexokinase isoform X11