Aliases for ATIC Gene
- 5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase 2 3 5
- Phosphoribosylaminoimidazolecarboxamide Formyltransferase/IMP Cyclohydrolase 2 3
- PURH 3 4
- 5-Aminoimidazole-4-Carboxamide-1-Beta-D-Ribonucleotide Transformylase/Inosinicase 3
- AICAR Formyltransferase/IMP Cyclohydrolase Bifunctional Enzyme 3
- Epididymis Secretory Sperm Binding Protein Li 70p 3
- Bifunctional Purine Biosynthesis Protein PURH 3
External Ids for ATIC Gene
Previous GeneCards Identifiers for ATIC Gene
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]
GeneCards Summary for ATIC Gene
ATIC (5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase) is a Protein Coding gene. Diseases associated with ATIC include Aica-Ribosiduria Due To Atic Deficiency and Mental Retardation Epilepsy. Among its related pathways are One carbon pool by folate and Purine metabolism (REACTOME). GO annotations related to this gene include protein homodimerization activity and phosphoribosylaminoimidazolecarboxamide formyltransferase activity.
UniProtKB/Swiss-Prot for ATIC Gene
Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.
Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571).