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Khk Gene Detail
Summary
  • Symbol
    Khk
  • Name
    ketohexokinase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1096353
    NCBI Gene: 16548
Location & Maps
more
  • Sequence Map
    Chr5:30921431-30931248 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9818 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 16.90 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    KHK, ketohexokinase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    KHK, ketohexokinase
    Orthology source: HomoloGene
  • Links
    NCBI Gene ID: 3795
    neXtProt AC: NX_P50053

  • Chr Location
    2p23.3; chr2:27086743-27100751 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 38187
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: KHK
  • Gene Tree
    Khk
Human Diseases
more
  • Diseases
    1 with human KHK associations

Human Disease Mouse Models
       Fructosuria, Essential   OMIM: 229800
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 2 alleles in 2 genetic backgrounds
    31 phenotype references
  • All Mutations and Alleles
    13
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Radiation induced
    3
  • Spontaneous
    1
  • Targeted
    6
  • Genomic Mutations
    6 involving Khk
  • Incidental Mutations
    APF
Mice homozygous for alleles that do not produce isoform A or isoforms A and C exhibit normal fertility, development, blood chemistry, and tissue metabolite levels.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030395 VEGA Gene Model | MGI Sequence Detail 9818 C57BL/6J ±  kb
transcript OTTMUST00000075287 VEGA | MGI Sequence Detail 1257 Not Applicable  
polypeptide OTTMUSP00000039428 VEGA | MGI Sequence Detail 343 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    96 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 145
    cDNA 144
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 36
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 8
    Phenotypes 31
  • Earliest
    J:37599 Wightman PJ, et al., The genes encoding glucokinase regulatory protein and ketohexokinase co-localize to mouse chromosome 5. Mamm Genome. 1997 Sep;8(9):700-1
  • Latest
    J:227317 Patel C, et al., Fructose-induced increases in expression of intestinal fructolytic and gluconeogenic genes are regulated by GLUT5 and KHK. Am J Physiol Regul Integr Comp Physiol. 2015 Sep;309(5):R499-509

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory