ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase [Homo sapiens (human)]
| Gene Symbol | ATIC |
| Entrez Gene ID | 471 |
| Full Name | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
| Synonyms | AICAR, AICARFT, FLJ93545, IMPCHASE, PURH |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
2 2q35 |
| Summary | 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]. |
| Disorder | MIM: 601731 AICA-ribosiduria due to ATIC deficiency, 608688 (3) |
| mRNA | NM_004044, 258613988 |
| Protein | NP_004035, 20127454 |
| Product | bifunctional purine biosynthesis protein PURH |
| RefSeq Status | REVIEWED |
| hsa01100 | Metabolic pathways |
| hsa00230 | Purine metabolism |
| hsa00670 | One carbon pool by folate |
WikiPathways
| WP241 | One Carbon Metabolism |
Reactome
| REACT_522 | Purine metabolism |
| REACT_1698 | Metabolism of nucleotides |
| REACT_1776 | Purine ribonucleoside monophosphate biosynthesis |
| Homo sapiens (human) | ATIC | NP_004035.2 |
| Pan troglodytes (chimpanzee) | ATIC | XP_001150375.1 |
| Canis lupus familiaris (dog) | ATIC | XP_863050.1 |
| Bos taurus (cattle) | ATIC | NP_001068722.1 |
| Mus musculus (house mouse) | Atic | NP_080471.1 |
| Rattus norvegicus (Norway rat) | Atic | NP_112276.2 |
| Gallus gallus (chicken) | ATIC | NP_990509.1 |
| Danio rerio (zebrafish) | atic | NP_001076265.2 |
| Drosophila melanogaster (fruit fly) | CG11089 | NP_651305.1 |
| Caenorhabditis elegans | transferase | NP_741452.2 |
| Arabidopsis thaliana (thale cress) | AT2G35040 | NP_850240.1 |
| ID | Name | Evidence |
| GO:0006139 | nucleobase, nucleoside, nucleotide and nucleic acid metabolic process | TAS |
| GO:0006144 | purine base metabolic process | TAS |
| GO:0006164 | purine nucleotide biosynthetic process | IEA |
| GO:0006188 | IMP biosynthetic process | IEA |
| GO:0009168 | purine ribonucleoside monophosphate biosynthetic process | EXP |
| GO:0031100 | organ regeneration | IEA |
| GO:0055086 | nucleobase, nucleoside and nucleotide metabolic process | TAS |
Component
| ID | Name | Evidence |
| GO:0005739 | mitochondrion | IEA |
| GO:0005829 | cytosol | TAS |
Function
| ID | Name | Evidence |
| GO:0003937 | IMP cyclohydrolase activity | TAS |
| GO:0004643 | phosphoribosylaminoimidazolecarboxamide formyltransferase activity | TAS |
| GO:0005515 | protein binding | IPI |
| GO:0016740 | transferase activity | IEA |
| GO:0016787 | hydrolase activity | IEA |
| GO:0042803 | protein homodimerization activity | IPI |
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