KHK A43T [cytosol]

Stable Identifier
R-HSA-5656462
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Ketohexokinase A43T, Hepatic fructokinase A43T
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
BioGPS Gene:3795 KHK
COSMIC (genes):KHK KHK
CTD Gene:3795 KHK
dbSNP Gene:3795 KHK
ENSEMBL:ENSG00000138030 KHK
HGNC:6315 KHK
KEGG:hsa:3795 KHK
Monarch:3795 KHK
NCBI Gene:3795 KHK
OMIM:614058 KHK
UCSC:P50053 KHK
Reference Transcript
Participates
as a component of
Other forms of this molecule
KHK [cytosol]
KHK G40R [cytosol]
Modified Residues
Name
L-alanine 43 replaced with L-threonine
Coordinate
43
PsiMod
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
L-threonine residue [MOD:00026]
A protein modification that effectively converts a source amino acid residue to L-threonine.
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder DOID:2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
ZINC - Substances
ZINC target
PRO
PDB
HPA
GeneCards
KHK
Pharos - Targets
Orphanet
KHK
ZINC - Predictions - Purchasable
HMDB Protein
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