HPRT_HUMAN
Source:
hRBCD
; ID:
IPI00218493
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
HPRT1
, HPRT
Protein names and data:
HPRT_HUMAN
, Hypoxanthine-guanine phosphoribosyltransferase; HGPRT; HGPRTase; 2.4.2.8
Lenght: 218 a.a.
Mass: 24579 Da
fasta formatted sequence
Function:
Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5- phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
Catalytic activity:
IMP + diphosphate = hypoxanthine + 5-phospho- alpha-D-ribose 1-diphosphate. GMP + diphosphate = guanine + 5-phospho-alpha- D-ribose 1-diphosphate.
Pathway:
Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1.
Disease:
( OMIM:
300322
300323
308000
)
Lesch-Nyhan syndrome (LNS) [MIM:300322]: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self- mutilation. Note=The disease is caused by mutations affecting the gene represented in this entry. Gout HPRT-related (GOUT-HPRT) [MIM:300323]: Characterized by partial enzyme activity and hyperuricemia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm.
Genetic variants
7 - 7
G -> D (in GOUT-HPRT; Gravesend). VAR_006750
8 - 8
V -> G (in LNS; HB). VAR_006751
16 - 16
G -> D (in LNS; FG). VAR_006752
16 - 16
G -> S (in GOUT-HPRT; Urangan). VAR_006753
20 - 20
D -> V (in GOUT-HPRT; Mashad). VAR_006754
23 - 23
C -> W (in GOUT-HPRT; JS). VAR_006755
28 - 28
Missing (in LNS). VAR_012312
41 - 41
L -> P (in LNS; Detroit). VAR_006756
42 - 42
I -> F (in LNS; Isar). VAR_006757
42 - 42
I -> T (in LNS; Heapey). VAR_006758
43 - 44
MD -> RN (in LNS; Salamanca). VAR_006759
45 - 45
R -> K (in LNS; RJK 2163). VAR_006760
48 - 48
R -> H (in GOUT-HPRT; AD and DD). VAR_006761
50 - 50
A -> P (in LNS; LW). VAR_006763
50 - 50
A -> V (in LNS; 1265). VAR_006762
51 - 51
R -> G (in GOUT-HPRT; Toronto). VAR_006764
51 - 51
R -> P (in LNS; Banbury). VAR_006765
52 - 52
D -> G (in Edinburgh). VAR_006766
53 - 53
V -> A (in GOUT-HPRT; MG). VAR_006767
53 - 53
V -> M (in GOUT-HPRT; TE). VAR_006768
54 - 54
M -> L (in LNS; Japan-1). VAR_006769
57 - 57
M -> T (in LNS; Montreal). VAR_006770
58 - 58
G -> R (in GOUT-HPRT; Toowong). VAR_006771
61 - 61
H -> R (enzyme activity 37% of normal; asymptomatic). VAR_006772
70 - 70
G -> E (in LNS; New Haven/1510). VAR_006773
71 - 71
G -> R (in LNS; Yale). VAR_006774
74 - 74
F -> L (in LNS; Flint/RJK 892/DW/Perth/ 1522). VAR_006775
78 - 78
L -> V (in GOUT-HPRT; Swan). VAR_006776
80 - 80
D -> V (in GOUT-HPRT; Arlington). VAR_006777
104 - 104
S -> R (in GOUT-HPRT; Munich). VAR_006778
110 - 110
S -> L (in GOUT-HPRT; London). VAR_006779
130 - 130
V -> D (in LNS; Midland/RJK 896). VAR_006780
131 - 131
L -> S (in LNS; RJK 1784). VAR_006781
132 - 132
I -> M (in GOUT-HPRT; Ann-Arbor). VAR_006782
132 - 132
I -> T (in LNS; Runcorn). VAR_006783
135 - 135
D -> G (in GOUT-HPRT; Yeronga). VAR_006784
143 - 143
M -> K (in LNS; RJK 1210). VAR_006785
143 - 143
M -> MA (in LNS; RW). VAR_006786
161 - 161
A -> S (in GOUT-HPRT; Milwaukee/RJK 949). VAR_006787
162 - 162
S -> R (in LNS; Farnham). VAR_006788
168 - 168
T -> I (in GOUT-HPRT; Brisbane). VAR_006789
176 - 176
P -> L (in LNS; Marlow). VAR_006790
177 - 177
D -> V (in LNS; Roanne). VAR_006791
177 - 177
D -> Y (in LNS; RJK 2185). VAR_006792
179 - 180
VG -> GR (in GOUT-HPRT; Japan-2). VAR_006794
179 - 179
Missing (in LNS; Michigan). VAR_006793
183 - 183
I -> T (in GOUT-HPRT; JF). VAR_006796
188 - 188
V -> A (in Japan). VAR_006795
194 - 194
D -> E (in GOUT-HPRT; Moose-Jaw; results in cooperativity and decreased substrate affinities). VAR_006797
194 - 194
D -> N (in LNS; Kinston/RJK 2188). VAR_006798
195 - 195
Y -> C (in GOUT-HPRT; Dirranbandi). VAR_006799
199 - 199
F -> V (in LNS; New Briton/RJK 950). VAR_006800
201 - 201
D -> G (in GOUT-HPRT; Ashville). VAR_006801
201 - 201
D -> N (in GOUT-HPRT; RB). VAR_006802
201 - 201
D -> Y (in LNS; GM). VAR_006803
204 - 204
H -> D (in LNS; RJK 1874). VAR_006804
204 - 204
H -> R (in LNS; 779). VAR_006805
206 - 206
C -> Y (in LNS; Reading/RJK 1727). VAR_006806
Database cross-references
UniProt:
P00492
Ensembl:
ENST00000298556
MIM:
300322
MIM:
300323
MIM:
308000
neXtProt:
NX_P00492
Antibodypedia:
P00492
(may not find the protein thus also not any antibody)
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