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Literature summary for 4.1.1.21 extracted from

  • Duval, N.; Luhrs, K.; Wilkinson, T.G.; Baresova, V.; Skopova, V.; Kmoch, S.; Vacano, G.N.; Zikanova, M.; Patterson, D.
    Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders (2013), Mol. Genet. Metab., 108, 178-189.
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
analysis sensitive and rapid analytical method for detection of purine de novo biosynthesis intermediates based on high performance liquid chromatography with electrochemical detection. Method is applied to accumulation of 5-aminoimidazole ribotide in AdeD cells Cricetulus griseus

Protein Variants

Protein Variants Comment Organism
E177K mutation identified in PAICS gene of AdeD cell, located in alpha4. Mutation impacts protein structure and completely abolishes its biosynthesis Cricetulus griseus
I237V mutation identified in PAICS gene of AdeD cell, located in the loop between beta14 and alpha5 Cricetulus griseus
W363? mutation identified in PAICS gene of AdeD cell, located in alpha9. Mutation impacts protein structure and completely abolishes its biosynthesis Cricetulus griseus

Organism

Organism UniProt Comment Textmining
Cricetulus griseus M1R995
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Source Tissue

Source Tissue Comment Organism Textmining
CHO cell accumulates 5-aminoimidazole ribotide Cricetulus griseus
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CHO-K1 cell
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 Cricetulus griseus
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Synonyms

Synonyms Comment Organism
AdeD
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 Cricetulus griseus
PAICS
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 Cricetulus griseus
phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase
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 Cricetulus griseus