KHK A43T [cytosol]

Stable Identifier
R-HSA-5656462
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Ketohexokinase A43T, Hepatic fructokinase A43T
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
7833921 Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)

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

Hum Mol Genet 1994
External Reference Information
External Reference
Gene Names
KHK
Chain
chain:1-298
Other Identifiers
0002970601
0003850100
0005550154
0005670167
11729680_a_at
11755098_a_at
16878081
205175_s_at
211028_s_at
2474239
2474241
2474242
2474243
2474245
2474251
2474254
2474256
2474257
2474260
2474261
2474262
2474263
2474264
37606_at
37608_g_at
3795
8040802
A_14_P100983
A_23_P5845
A_33_P3309984
A_33_P3333455
GE60040
GO:0000166
GO:0003674
GO:0004454
GO:0005515
GO:0005524
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005829
GO:0005975
GO:0006000
GO:0006091
GO:0008150
GO:0009056
GO:0009744
GO:0009749
GO:0009750
GO:0010043
GO:0016301
GO:0016310
GO:0016740
GO:0032868
GO:0043167
GO:0043226
GO:0044281
GO:0046835
GO:0061624
GO:0070062
GO:0070873
HMNXSV003014060
HMNXSV003031430
HMNXSV003033355
ILMN_1678173
ILMN_1706690
ILMN_1710916
ILMN_1717888
PH_hs_0024894
TC02000164.hg
X78678_at
g13623266_3p_s_at
g4557692_3p_a_at
Participates
Other forms of this molecule
Modified Residues
Name
L-alanine 43 replaced with L-threonine
Coordinate
43
PsiMod
A protein modification that effectively converts a source amino acid residue to L-threonine.
A protein modification that effectively removes or replaces an L-alanine.
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
OpenTargets
ZINC - Substances
ZINC target
PRO
IntEnz
GeneCards
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
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