PRPS1
entrez
5631
canonical
uniprot
P60891
canonical
ensembl
ENSG00000147224
resolver
ensp
ENSP00000361512
resolver
genesymbol
PRPS1
resolver
hgnc
HGNC:9462
resolver
uniprot
B1ALA8
resolver
uniprot
B2R6T7
resolver
uniprot
B4DNL6
resolver
uniprot
B7ZB02
resolver
uniprot
D3DUX6
resolver
uniprot
P09329
resolver
uniprot_entry
B7ZB02_HUMAN
resolver
uniprot_entry
PRPS1_HUMAN
resolver
uniprot_sec
B1ALA8
resolver
uniprot_sec
B2R6T7
resolver
uniprot_sec
B4DNL6
resolver
uniprot_sec
D3DUX6
resolver
uniprot_sec
P09329
resolver
activity_regulation
ACTIVITY REGULATION: Activated by magnesium and inorganic phosphate. Inhibited by ADP and GDP (PubMed:7593598). {ECO:0000269|PubMed:7593598}.
uniprot
proteins
amino_acid_sequence
MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL
uniprot
proteins
disease_involvement
DISEASE: Note=Phosphoribosyl pyrophosphate synthetase I deficiency is a rare condition caused by mutations in PRPS1 that lead to variable disease phenotypes including optic atrophy, retinitis pigmentosa, ataxia, peripheral neuropathy and hearing loss. {ECO:0000269|PubMed:25491489}.; DISEASE: Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. {ECO:0000269|PubMed:7593598, ECO:0000269|Ref.12}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:17701900}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: ARTS syndrome (ARTS) [MIM:301835]: A disorder characterized by intellectual disability, 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. {ECO:0000269|PubMed:17701896}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:20021999}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A mutation in PRPS1 has been found in a patient with a phenotype that bridges that of PRSPS1 superactivity and ARTS syndrome with uric acid overproduction without gout but with recurrent infections, sensorineural hearing loss and motor neuropathy. The intermediate phenotype may be because Leu-142 variant affects both allosteric sites that are involved in inhibition of PRPS1 and the ATP-binding site, which suggests that this substitution can result both in a gain-of-function and loss-of-function of PRPP synthetase. {ECO:0000269|PubMed:22246954}.
uniprot
proteins
ec_number
2.7.6.1
uniprot
proteins
function
FUNCTION: Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. {ECO:0000269|PubMed:16939420, ECO:0000269|PubMed:17701900, ECO:0000269|PubMed:7593598}.
uniprot
proteins
mass_dalton
34834
uniprot
proteins
mutagenesis
MUTAGEN 132; /note="S->A: Reduces catalytic activity."; /evidence="ECO:0000269|PubMed:16939420"; MUTAGEN 132; /note="S->F: No effect on catalytic activity."; /evidence="ECO:0000269|PubMed:16939420"; MUTAGEN 144; /note="N->H: No effect on catalytic activity."; /evidence="ECO:0000269|PubMed:16939420"; MUTAGEN 146; /note="Y->F: No effect on catalytic activity."; /evidence="ECO:0000269|PubMed:16939420"; MUTAGEN 146; /note="Y->M: Reduces catalytic activity."; /evidence="ECO:0000269|PubMed:16939420
uniprot
proteins
pathway_participation
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. {ECO:0000269|PubMed:16939420, ECO:0000269|PubMed:17701900}.
uniprot
proteins
protein_family
Ribose-phosphate pyrophosphokinase family
uniprot
proteins
pubmed
1314091
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
1650777
uniprot
proteins
pubmed
16939420
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17701896
uniprot
proteins
pubmed
17701900
uniprot
proteins
pubmed
20021999
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2155397
uniprot
proteins
pubmed
22246954
uniprot
proteins
pubmed
25491489
uniprot
proteins
pubmed
7593598
uniprot
proteins
sequence_length
318
uniprot
proteins