KHK G40R [cytosol]

Stable Identifier
R-HSA-5656458
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Ketohexokinase G40R, Hepatic fructokinase G40R
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
7833921 Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)

Donaldson, IA, Brady, N, Steinmann, B, Bonthron, DT

Hum Mol Genet 1994
External Reference Information
External Reference
UniProt:P50053 KHK
Gene Names
KHK
Chain
chain:1-298
Reference Genes
COSMIC (genes):KHK KHK
dbSNP Gene:3795 KHK
ENSEMBL:ENSG00000138030 KHK
Participates
as a component of
Other forms of this molecule
KHK A43T [cytosol]
KHK [cytosol]
Modified Residues
Name
glycine 40 replaced with L-arginine
Coordinate
40
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder DOID:2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
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