HPRT1 G140D [cytosol]

Stable Identifier
R-HSA-9734264
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Hypoxanthine-guanine phosphoribosyltransferase G140D
HPRT1 G140D [cytosol] icon
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
HPRT1, HPRT
Chain
initiator methionine:, chain:2-218
Reference Transcript
Other Identifiers
11758015_s_at
17107045
202854_PM_at
202854_at
3251
37640_at
3991699
3991700
3991703
3991704
3991709
3991712
3991716
3991717
3991719
3991720
3991721
3991722
3991723
53029_at
8169984
A_23_P11372
GE57924
GO:0000166
GO:0000287
GO:0001913
GO:0001975
GO:0002376
GO:0003824
GO:0004422
GO:0005515
GO:0005576
GO:0005615
GO:0005737
GO:0005829
GO:0006164
GO:0006166
GO:0006178
GO:0007625
GO:0007626
GO:0016740
GO:0016757
GO:0021756
GO:0021895
GO:0021954
GO:0030154
GO:0032263
GO:0032264
GO:0042417
GO:0042802
GO:0043103
GO:0043226
GO:0044209
GO:0045964
GO:0046038
GO:0046040
GO:0046083
GO:0046100
GO:0046651
GO:0046872
GO:0048813
GO:0048856
GO:0051289
GO:0052657
GO:0055086
GO:0065003
GO:0070062
GO:0071542
GO:1901135
HMNXSV003009943
ILMN_1736940
ILMN_2056975
M31642_at
PH_hs_0024909
TC0X000636.hg
g4504482_3p_at
Participates
Other forms of this molecule
Modified Residues
Name
glycine 140 replaced with L-aspartic acid
Coordinate
140
PsiMod
A protein modification that effectively removes or replaces an glycine.
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Disease
Name Identifier Synonyms
Lesch-Nyhan syndrome DOID:1919 Lesch - Nyhan syndrome, X-linked hyperuricemia, hypoxanthine guanine phosphoribosyltransferase deficiency, HG-PRT deficiency, deficiency of IMP pyrophosphorylase, Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine-phosphoribosyltransferase deficiency
Cross References
RefSeq
OpenTargets
ZINC - Substances
ZINC target
PRO
IntEnz
GeneCards
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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