PRPS1_HUMAN
Source:
hRBCD
; ID:
IPI00219616
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
PRPS1
Protein names and data:
PRPS1_HUMAN
, Ribose-phosphate pyrophosphokinase 1; 2.7.6.1
, PPRibP; Phosphoribosyl pyrophosphate synthase I; PRS-I
Lenght: 318 a.a.
Mass: 34834 Da
fasta formatted sequence
Function:
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
Catalytic activity:
ATP + D-ribose 5-phosphate = AMP + 5-phospho- alpha-D-ribose 1-diphosphate.
Pathway:
Metabolic intermediate biosynthesis; 5-phospho-alpha-D- ribose 1-diphosphate biosynthesis; 5-phospho-alpha-D-ribose 1- diphosphate from D-ribose 5-phosphate (route I): step 1/1.
Disease:
( OMIM:
300661
301835
304500
311070
311850
)
Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. Note=The disease is caused by mutations affecting the gene represented in this entry. Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. Note=The disease is caused by mutations affecting the gene represented in this entry. ARTS syndrome (ARTS) [MIM:301835]: A disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death. Note=The disease is caused by mutations affecting the gene represented in this entry. Deafness, X-linked, 1 (DFNX1) [MIM:304500]: A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
43 - 43
E -> D (in CMTX5). VAR_036941
52 - 52
D -> H (in PRPS1 superactivity). VAR_016044
65 - 65
D -> N (in DFNX1). VAR_063522
87 - 87
A -> T (in DFNX1). VAR_063523
114 - 114
N -> S (in PRPS1 superactivity). VAR_004163
115 - 115
M -> T (in CMTX5). VAR_036942
129 - 129
L -> I (in PRPS1 superactivity). VAR_016045
133 - 133
Q -> P (in ARTS). VAR_036943
152 - 152
L -> P (in ARTS). VAR_036944
183 - 183
D -> H (in PRPS1 superactivity). VAR_004164
190 - 190
A -> V (in PRPS1 superactivity). VAR_016046
193 - 193
H -> Q (in PRPS1 superactivity). VAR_016047
203 - 203
D -> H (in a breast cancer sample; somatic mutation). VAR_036593
219 - 219
V -> G (in a breast cancer sample; somatic mutation). VAR_036594
231 - 231
H -> D (in a colorectal cancer sample; somatic mutation). VAR_036595
290 - 290
I -> T (in DFNX1). VAR_063524
306 - 306
G -> R (in DFNX1). VAR_063525
Database cross-references
UniProt:
P60891
Ensembl:
ENST00000372435
Ensembl:
ENST00000543248
MIM:
300661
MIM:
301835
MIM:
304500
MIM:
311070
MIM:
311850
neXtProt:
NX_P60891
Antibodypedia:
P60891
(may not find the protein thus also not any antibody)
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