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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
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
Essential fructosuria (Homo sapiens)
Defective KHK does not phosphorylate beta-D-fructose (Homo sapiens)
KHK mutant dimers [cytosol] (Homo sapiens)
KHK A43T dimer [cytosol] (Homo sapiens)
KHK A43T [cytosol] (Homo sapiens)
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
RefSeq:NM_000221.2 KHK
RefSeq:NM_006488.2 KHK
Participates
as a component of
KHK A43T dimer [cytosol] (Homo sapiens)
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
NP_000212.1
,
NP_006479.1
Guide to Pharmacology - Targets
3236
OpenTargets
ENSG00000138030
ENSEMBL
ENSG00000138030
,
ENSP00000260598
,
ENST00000260598
,
ENST00000260599
,
ENSP00000260599
ZINC - Substances
KHK_HUMAN
ZINC target
P50053
PRO
P50053
PDB
3B3L
,
9FHE
,
8UG3
,
2HLZ
,
8UG1
,
8OMF
,
9FHD
,
8OMJ
,
8OME
,
8OMK
,
6W0W
,
6W0X
,
6W0N
,
5WBQ
,
5WBP
,
6UL7
,
6W0Z
,
6W0Y
,
5WBR
,
5WBZ
,
5WBM
,
5WBO
,
3QA2
,
3NBV
,
3Q92
,
3NCA
,
3RO4
,
3NC9
,
3NC2
,
2HW1
,
3NBW
,
2HQQ
,
3QAI
HPA
ENSG00000138030-KHK
GeneCards
KHK
Pharos - Targets
P50053
Orphanet
KHK
ZINC - Predictions - Purchasable
KHK_HUMAN
HMDB Protein
HMDBP01205
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