Molecular weight (DA)
64kD
Immunogen
Purified recombinant human ATIC protein fragments expressed in E.coli.
Specificity
This antibody detects endogenous levels of ATIC and does not cross-react with related proteins.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Purification process (Immunogen)
The antibody was affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogen.
Background
This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009],
Function
catalytic activity:10-formyltetrahydrofolate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide = tetrahydrofolate + 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.,catalytic activity:IMP + H(2)O = 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.,disease:Defects in ATIC are the cause of AICA-ribosuria [MIM:608688]; also known as AICA-ribosiduria. AICA-ribosuria is a neurologically devastating inborn error of purine biosynthesis. AICA-ribosuria patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICA-ribosuria causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness.,domain:The IMP cyclohydrolase activity resides in the N-terminal region.,pathway:Purine metabolism; IMP biosynthesis via de novo pathway; 5-formamido-1-(5-phospho-D-ribosy
Other name
5 aminoimidazole 4 carboxamide 1 beta D ribonucleotide transformylase/inosinicase;5 aminoimidazole 4 carboxamide ribonucleotide formyltransferase;5 aminoimidazole 4 carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase;5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase;AICAR;AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme;AICAR transformylase;AICARFT;AICARFT/IMPCHASE;ATIC; Bifunctional purine biosynthesis protein PURH;FLJ93545;IMP cyclohydrolase;IMP synthase;IMP synthetase;IMPCHASE;Inosinicase;OK/SW-cl.86; Phosphoribosylaminoimidazolecarboxamide formyltransferase; Phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase;PUR9_HUMAN; PURH.
Fields
>>Purine metabolism;>>One carbon pool by folate;>>Metabolic pathways;>>Antifolate resistance
Human protein sequence Database
P31939
Mouse protein sequence database
Q9CWJ9
Rat protein sequence database
Cellular localization
mitochondrion,cytosol,cell-cell adherens junction,membrane,extracellular exosome,
Tissue expression
Present in the heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas.
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