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

Gene name
PRPS1, ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI
Definition
(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 I superactivity
H00264  Charcot-Marie-Tooth disease (CMT)
H00946  Arts syndrome
H01209  Deafness, X-linked
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  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
Pfam: Pribosyltran_N Pribosyl_synth Pribosyltran UPRTase DUF2088
Motif
Other DBs
NCBI-GeneID: 5631
NCBI-ProteinID: NP_002755
OMIM: 311850
HGNC: 9462
Ensembl: ENSG00000147224
Vega: OTTHUMG00000022167
Pharos: P60891(Tbio)
UniProt: P60891
Structure
PDB: 

Position
Xq22.3
AA seq 318 aa AA seqDB search
MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGC
GEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAG
ADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTS
IADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAG
ATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAI
RRTHNGESVSYLFSHVPL
NT seq 957 nt NT seq  +upstreamnt  +downstreamnt
atgccgaatatcaaaatcttcagcggcagctcccaccaggacttatctcagaaaattgct
gaccgcctgggcctggagctaggcaaggtggtgactaagaaattcagcaaccaggagacc
tgtgtggaaattggtgaaagtgtacgtggagaggatgtctacattgttcagagtggttgt
ggcgaaatcaatgacaatttaatggagcttttgatcatgattaatgcctgcaagattgct
tcagccagccgggttactgcagtcatcccatgcttcccttatgcccggcaggataagaaa
gataagagccgggcgccaatctcagccaagcttgttgcaaatatgctatctgtagcaggt
gcagatcatattatcaccatggacctacatgcttctcaaattcagggcttttttgatatc
ccagtagacaatttgtatgcagagccggctgtcctaaagtggataagggagaatatctct
gagtggaggaactgcactattgtctcacctgatgctggtggagctaagagagtgacctcc
attgcagacaggctgaatgtggactttgccttgattcacaaagaacggaagaaggccaat
gaagtggaccgcatggtgcttgtgggagatgtgaaggatcgggtggccatccttgtggat
gacatggctgacacttgtggcacaatctgccatgcagctgacaaacttctctcagctggc
gccaccagagtttatgccatcttgactcatggaatcttctccggtcctgctatttctcgc
atcaacaacgcatgctttgaggcagtagtagtcaccaataccatacctcaggaggacaag
atgaagcattgctccaaaatacaggtgattgacatctctatgatccttgcagaagccatc
aggagaactcacaatggagaatccgtttcttacctattcagccatgtccctttataa

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