KEGG   Homo sapiens (human): 5631Help
Entry
5631              CDS       T01001                                 

Gene name
PRPS1, ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI
Definition
phosphoribosyl pyrophosphate synthetase 1 (EC:2.7.6.1)
Orthology
K00948  
ribose-phosphate pyrophosphokinase [EC:2.7.6.1]
Organism
hsa  Homo sapiens (human)
Pathway
Pentose phosphate pathway
Purine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Module
PRPP biosynthesis, ribose 5P => PRPP
Disease
H00196  
Phosphoribosylpyrophosphate synthetase I superactivity
H00264  
Charcot-Marie-Tooth disease (CMT)
H00946  
Arts syndrome
H01209  
Deafness, X-linked
Class
Metabolism; Overview; Carbon metabolism [PATH:hsa01200]
Metabolism; Overview; Biosynthesis of amino acids [PATH:hsa01230]
Metabolism; Carbohydrate metabolism; Pentose phosphate pathway [PATH:hsa00030]
Metabolism; Nucleotide metabolism; Purine metabolism [PATH:hsa00230]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
Xq22.3
AA seq 114 aa AA seqDB search
MVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNA
CFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL
NT seq 345 nt NT seq  +upstreamnt  +downstreamnt
atggtgcttgtgggagatgtgaaggatcgggtggccatccttgtggatgacatggctgac
acttgtggcacaatctgccatgcagctgacaaacttctctcagctggcgccaccagagtt
tatgccatcttgactcatggaatcttctccggtcctgctatttctcgcatcaacaacgca
tgctttgaggcagtagtagtcaccaataccatacctcaggaggacaagatgaagcattgc
tccaaaatacaggtgattgacatctctatgatccttgcagaagccatcaggagaactcac
aatggagaatccgtttcttacctattcagccatgtccctttataa

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