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bifunctional purine biosynthesis protein PURH; phospho-ribosyl-amino-imidazole-carboxamide formyltransferase; AICAR transformylase; IMP cyclohydrolase (ATIC, PURH, OK/SW-cl86)
Function:
- purine metabolism; IMP biosynthesis via de novo pathway 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide (AICAR) (10-formyl THF route): step 1/1
- purine metabolism; IMP biosynthesis via de novo pathway IMP from 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide: step 1/1
10-formyltetrahydrofolate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
tetrahydrofolate + 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
IMP + H2O
5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
Structure:
- IMP cyclohydrolase activity resides in the N-terminal region
- belongs to the purH family
Pathology:
- defects in ATIC are the cause of AICA-ribosuria
Related
aminoimidazole carboxamide ribonucleotide; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide (AICAR)
General
hydrolase
phosphoprotein
transferase
Properties
SIZE: entity length = 592 aa
MW = 65 kD
MOTIF: Tyr phosphorylation site {Y104}
Database Correlations
OMIM correlations
MORBIDMAP 601731
UniProt P31939
PFAM correlations
Entrez Gene 471
KEGG correlations
ENZYME correlations
References
- UniProt :accession P31939
- Atlas of genetics & cytogenetics in oncology & haematology
http://atlasgeneticsoncology.org/genes/ATICID227.html
- Turesson C & Matteson EL,
Genetics of rheumatoid arthritis
Mayo Clin Proc 2006; 81:94
PMID: 16438485