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MGP000232

UniProt Annotations

Entry Information
Gene Name5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Protein EntryPUR9_HUMAN
UniProt IDP31939
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P31939-1; Sequence=Displayed; Name=2; IsoId=P31939-2; Sequence=VSP_053495;
Catalytic Activity10-formyltetrahydrofolate + 5-amino-1-(5- phospho-D-ribosyl)imidazole-4-carboxamide = tetrahydrofolate + 5- formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.
Catalytic ActivityIMP + H(2)O = 5-formamido-1-(5-phospho-D- ribosyl)imidazole-4-carboxamide.
DiseaseAICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:608688]: A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA- riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness. {ECO:0000269|PubMed:15114530}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe IMP cyclohydrolase activity resides in the N-terminal region.
FunctionBifunctional enzyme that catalyzes 2 steps in purine biosynthesis. {ECO:0000269|PubMed:14966129}.
PathwayPurine 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 (10-formyl THF route): step 1/1.
PathwayPurine metabolism; IMP biosynthesis via de novo pathway; IMP from 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4- carboxamide: step 1/1.
SimilarityBelongs to the PurH family. {ECO:0000305}.
SubunitHomodimer. {ECO:0000269|PubMed:14756553, ECO:0000269|PubMed:14966129}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ATICID227.html";
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