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

More general terms

• transferase
• hydrolase
• phosphoprotein

Additional terms

• aminoimidazole carboxamide ribonucleotide; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide (AICAR)

Database

• UniProt: http://www.uniprot.org/uniprot/P31939.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=471
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:471
• OMIM: https://mirror.omim.org/entry/601731
• OMIM: https://mirror.omim.org/entry/608688