Homo sapiens (human): 5631
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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)
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Pribosyltran_N
Pribosyl_synth
Pribosyltran
UPRTase
Motif
Other DBs
NCBI-GeneID:
5631
NCBI-ProteinID:
NP_002755
OMIM:
311850
HGNC:
9462
Ensembl:
ENSG00000147224
UniProt:
P60891
Structure
PDB
PDBj
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Position
X:107628510..107651026
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AA seq
318 aa
AA seq
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MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGC
GEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAG
ADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTS
IADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAG
ATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAI
RRTHNGESVSYLFSHVPL
NT seq
957 nt
NT seq
+upstream
nt +downstream
nt
atgccgaatatcaaaatcttcagcggcagctcccaccaggacttatctcagaaaattgct
gaccgcctgggcctggagctaggcaaggtggtgactaagaaattcagcaaccaggagacc
tgtgtggaaattggtgaaagtgtacgtggagaggatgtctacattgttcagagtggttgt
ggcgaaatcaatgacaatttaatggagcttttgatcatgattaatgcctgcaagattgct
tcagccagccgggttactgcagtcatcccatgcttcccttatgcccggcaggataagaaa
gataagagccgggcgccaatctcagccaagcttgttgcaaatatgctatctgtagcaggt
gcagatcatattatcaccatggacctacatgcttctcaaattcagggcttttttgatatc
ccagtagacaatttgtatgcagagccggctgtcctaaagtggataagggagaatatctct
gagtggaggaactgcactattgtctcacctgatgctggtggagctaagagagtgacctcc
attgcagacaggctgaatgtggactttgccttgattcacaaagaacggaagaaggccaat
gaagtggaccgcatggtgcttgtgggagatgtgaaggatcgggtggccatccttgtggat
gacatggctgacacttgtggcacaatctgccatgcagctgacaaacttctctcagctggc
gccaccagagtttatgccatcttgactcatggaatcttctccggtcctgctatttctcgc
atcaacaacgcatgctttgaggcagtagtagtcaccaataccatacctcaggaggacaag
atgaagcattgctccaaaatacaggtgattgacatctctatgatccttgcagaagccatc
aggagaactcacaatggagaatccgtttcttacctattcagccatgtccctttataa
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