KHK A43T

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
00051+2.7.1.3
0005550154
0005670167
11729680_a_at
11755098_a_at
16878081
205175_s_at
211028_s_at
2474241
2474242
2474243
2474245
2474251
2474254
2474256
2474257
2474260
2474261
2474262
2474263
2474264
2HLZ
2HQQ
2HW1
37606_at
37608_g_at
3795
3B3L
3NBV
3NBW
3NC2
3NC9
3NCA
3Q92
3QA2
3QAI
3RO4
5WBM
5WBO
5WBP
5WBQ
5WBR
5WBZ
7040
8040802
A0A140VJM6
A_23_P5845
A_33_P3309984
AAH06233
AAX93167
AC013403
AEE61013
AJ005168
BC006233
CAA06409
CAA55346
CAA55347
CAA70516
CAA70521
CAA70522
CAA70523
CAG33082
CCDS1734
CCDS1735
CH471053
CR456801
EAX00643
ENSG00000138030
ENSP00000260598
ENSP00000260599
ENST00000260598
ENST00000260599
EntrezGene:3795
g13623266_3p_s_at
g4557692_3p_a_at
GE60040
GO:0000166
GO:0003674
GO:0004454
GO:0005515
GO:0005524
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005829
GO:0005975
GO:0006000
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
HGNC:6315
HM005415
HPA007040
ILMN_1678173
ILMN_1706690
ILMN_1710916
ILMN_1717888
IPR011611
IPR029056
IPR034093
KHK
KHK-201
KHK-202
MIM:229800
MIM:614058
NM_000221
NM_006488
NP_000212
NP_006479
PF00294
PH_hs_0024894
TC02000164.hg
uc002ril.3
uc002rim.3
UPI000002ACC0
UPI000012DE02
X78677
X78678
X78678_at
XM_005264294
XM_005264296
XM_005264298
XM_017004060
XM_017004061
XP_005264351
XP_005264353
XP_005264355
XP_016859549
XP_016859550
Y09336
Y09340
Y09341
Participant Of
Other forms of this molecule
Modified Residues
Name
L-alanine 43 replaced with L-threonine
Coordinate
43
PsiMod HEY
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 2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Cross References
ZINC - Substances
GeneCards
DOCK Blaster
ZINC target
PRO
BRENDA (Homo sapiens)
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein