KEGG   Homo sapiens (human): 5631
Entry
5631              CDS       T01001                                 
Symbol
PRPS1, ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI
Name
(RefSeq) phosphoribosyl pyrophosphate synthetase 1
  KO
K00948  ribose-phosphate pyrophosphokinase [EC:2.7.6.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00030  Pentose phosphate pathway
hsa00230  Purine metabolism
hsa01100  Metabolic pathways
hsa01200  Carbon metabolism
hsa01230  Biosynthesis of amino acids
Module
hsa_M00005  PRPP biosynthesis, ribose 5P => PRPP
Disease
H00196  Phosphoribosylpyrophosphate synthetase superactivity
H00264  Charcot-Marie-Tooth disease
H00946  Arts syndrome
H01209  Deafness, X-linked
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00030 Pentose phosphate pathway
    5631 (PRPS1)
  09104 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)
SSDB
Motif
Pfam: Pribosyltran_N Pribosyl_synth Pribosyltran UPRTase
Other DBs
NCBI-GeneID: 5631
NCBI-ProteinID: NP_002755
OMIM: 311850
HGNC: 9462
Ensembl: ENSG00000147224
UniProt: P60891
Structure
Position
X:107628510..107651026
AA seq 318 aa
MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGC
GEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAG
ADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTS
IADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAG
ATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAI
RRTHNGESVSYLFSHVPL
NT seq 957 nt   +upstreamnt  +downstreamnt
atgccgaatatcaaaatcttcagcggcagctcccaccaggacttatctcagaaaattgct
gaccgcctgggcctggagctaggcaaggtggtgactaagaaattcagcaaccaggagacc
tgtgtggaaattggtgaaagtgtacgtggagaggatgtctacattgttcagagtggttgt
ggcgaaatcaatgacaatttaatggagcttttgatcatgattaatgcctgcaagattgct
tcagccagccgggttactgcagtcatcccatgcttcccttatgcccggcaggataagaaa
gataagagccgggcgccaatctcagccaagcttgttgcaaatatgctatctgtagcaggt
gcagatcatattatcaccatggacctacatgcttctcaaattcagggcttttttgatatc
ccagtagacaatttgtatgcagagccggctgtcctaaagtggataagggagaatatctct
gagtggaggaactgcactattgtctcacctgatgctggtggagctaagagagtgacctcc
attgcagacaggctgaatgtggactttgccttgattcacaaagaacggaagaaggccaat
gaagtggaccgcatggtgcttgtgggagatgtgaaggatcgggtggccatccttgtggat
gacatggctgacacttgtggcacaatctgccatgcagctgacaaacttctctcagctggc
gccaccagagtttatgccatcttgactcatggaatcttctccggtcctgctatttctcgc
atcaacaacgcatgctttgaggcagtagtagtcaccaataccatacctcaggaggacaag
atgaagcattgctccaaaatacaggtgattgacatctctatgatccttgcagaagccatc
aggagaactcacaatggagaatccgtttcttacctattcagccatgtccctttataa

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (6)   
   KEGG PATHWAY (5)   
   KEGG MODULE (1)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (33)   
   KEGG ORTHOLOGY (1)   
   RefGene (21)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (20)   
   RefSeq(nuc) (2)   
   GenBank (9)   
   EMBL (9)   
3D Structure (25)   
   PDB (25)   
Protein domain (4)   
   Pfam (4)   
All databases (110)   

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