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Literature summary 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

Application

EC Number Application Comment Organism
4.1.1.21 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

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

Organism

EC Number Organism UniProt Comment Textmining
4.1.1.21 Cricetulus griseus M1R995
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Source Tissue

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

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