ATIC
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, Sep 2009].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:601731 Ensembl IDEnsembl:ENSG00000138363 HGNC IDHGNC:HGNC:794 PHARMGKB IDPA25094 Map Location2q35 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in ATIC
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0003937 | IMP cyclohydrolase activity |
| MF | TAS | GO:0004643 | phosphoribosylaminoimidazolecarboxamide formyltransferase activity |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | HDA | GO:0045296 | cadherin binding |
| BP | IEA | GO:0003360 | brainstem development |
| BP | TAS | GO:0006139 | nucleobase-containing compound metabolic process |
Gene expression in normal tissue: ATIC
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ATIC
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-15869 | Metabolism of nucleotides |
| reactome | R-HSA-73817 | Purine ribonucleoside monophosphate biosynthesis |
| reactome | R-HSA-8956320 | Nucleobase biosynthesis |
| humancyc | PWY-6124 | inosine-5,-phosphate biosynthesis |
| humancyc | PWY-841 | purine nucleotides de novo biosynthesis |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ATIC
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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