GFPT1 D348Y [cytosol]

Stable Identifier
R-HSA-4341671
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Glucosamine--fructose-6-phosphate aminotransferase (isomerizing) 1
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
GFPT1, GFAT, GFPT
Chain
initiator methionine:1, chain:2-699
Other Identifiers
0002480373
11720221_at
11720222_at
11720223_at
11757975_s_at
11758456_s_at
16898578
202721_s_at
202722_s_at
226886_at
227027_at
2558063
2558064
2558065
2558066
2558067
2558068
2558069
2558070
2558071
2558072
2558073
2558074
2558075
2558077
2558078
2558082
2558085
2558086
2558087
2558088
2558089
2558092
2558094
2558095
2558097
2558099
2558102
2558109
2558110
2673
32626_at
3284171
61346_at
8052762
90240_at
A_23_P345887
A_23_P44083
A_33_P3243153
GE54887
GE58132
GO:0003674
GO:0004360
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005829
GO:0006002
GO:0006047
GO:0006048
GO:0006091
GO:0006112
GO:0006464
GO:0006487
GO:0006520
GO:0006541
GO:0006950
GO:0007165
GO:0008150
GO:0008483
GO:0009058
GO:0016740
GO:0032922
GO:0034641
GO:0036498
GO:0043226
GO:0044281
GO:0048511
GO:0070062
GO:0097367
GO:1901135
GO:1901137
Hs.13396.0.A1_3p_at
Hs.1674.0.S1_3p_a_at
Hs.24723.0.A1_3p_at
ILMN_1696000
ILMN_2220184
ILMN_2220187
M90516_at
PH_hs_0000227
PH_hs_0039878
TC02001948.hg
g4503980_3p_a_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-aspartic acid 348 replaced with L-tyrosine
Coordinate
348
PsiMod
A protein modification that effectively converts a source amino acid residue to L-tyrosine.
A protein modification that effectively removes or replaces an L-aspartic acid.
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
Cross References
OpenTargets
OMIM
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
ZINC - Metabolites
GeneCards
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
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