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KHK ketohexokinase [ Homo sapiens (human) ]

Gene ID: 3795, updated on 13-Mar-2020

Summary

Official Symbol
KHKprovided by HGNC
Official Full Name
ketohexokinaseprovided by HGNC
Primary source
HGNC:HGNC:6315
See related
Ensembl:ENSG00000138030 MIM:614058
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
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

Genomic context

See KHK in Genome Data Viewer
Location:
2p23.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27086760..27100762)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27309611..27323619)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATP/GTP binding protein like 5 Neighboring gene oligosaccharyltransferase complex subunit 4, non-catalytic Neighboring gene elastin microfibril interfacer 1 Neighboring gene cell growth regulator with EF-hand domain 1 Neighboring gene abhydrolase domain containing 1 Neighboring gene prolactin regulatory element binding Neighboring gene proline rich 30

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
carbohydrate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ketohexokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ketohexokinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
carbohydrate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate TAS
Traceable Author Statement
more info
 
fructose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of glycogen metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to fructose IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to glucose IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to insulin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to sucrose IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to zinc ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
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

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    P50053
    UniProtKB/TrEMBL
    A0A140VJM6
    Related
    ENSP00000260599.6, ENST00000260599.10
    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 ...
  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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27086760..27100762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264294.4XP_005264351.1  ketohexokinase isoform X3

    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_017004060.2XP_016859549.1  ketohexokinase isoform X4

    Related
    ENSP00000404741.1, ENST00000429697.1
  3. XM_017004061.2XP_016859550.1  ketohexokinase isoform X10

  4. XM_005264298.4XP_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 ...
  5. XM_006712008.4XP_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, ...
  6. XM_006712010.4XP_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 ...
  7. XM_006712009.4XP_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, ...
  8. XM_006712012.4XP_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 ...
  9. XM_006712013.4XP_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, ...
  10. XM_006712014.4XP_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, ...
  11. XM_005264296.4XP_005264353.1  ketohexokinase isoform X8

    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 ...
  12. XM_006712011.4XP_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 ...
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