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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Overview
   01200 Carbon metabolism
    5631 (PRPS1)
   01230 Biosynthesis of amino acids
    5631 (PRPS1)
  Carbohydrate metabolism
   00030 Pentose phosphate pathway
    5631 (PRPS1)
  Nucleotide metabolism
   00230 Purine metabolism
    5631 (PRPS1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.6  Diphosphotransferases
    2.7.6.1  ribose-phosphate diphosphokinase
     5631 (PRPS1)
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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