ATIC Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | ATIC |
| Official Name | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase [Source:HGNC Symbol;Acc:HGNC:794] |
| Ensembl ID | ENSG00000138363 |
| Bio databases IDs | |
| Aliases | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase, phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase |
| Synonyms | 2610509C24Rik, 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase, AICAR, AICARFT, HEL-S-70p, IMPCHASE, LOC100910688, PURH |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATIC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MGS-like domain
- phosphoribosylaminoimidazolecarboxamide formyltransferase
- MGS-like
- phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase
- protein homodimerization
- IMP cyclohydrolase
- enzyme
- protein binding
- AICARFT/IMPCHase bienzyme
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- cancer
- lung squamous cell carcinoma
- metastatic non-squamous non-small cell lung cancer
- lung cancer
- advanced non-small cell lung cancer
- metastatic large cell lung carcinoma
- metastatic lung adenocarcinoma
- ATIC deficiency
- advanced large cell lung carcinoma
role in cell
- expression in
- proliferation
- growth
- colony formation
- transformation
- crizotinib sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Plasma Membrane
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATIC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- 'de novo' AMP biosynthetic process
- cerebellum development
- dihydrofolate metabolic process
- brainstem development
- 'de novo' IMP biosynthetic process
- tetrahydrofolate biosynthetic process
- organ regeneration
- cerebral cortex development
- GMP biosynthetic process
- 'de novo' XMP biosynthetic process
- nucleobase-containing compound metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- membrane
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- cadherin binding
- IMP cyclohydrolase activity
- phosphoribosylaminoimidazolecarboxamide formyltransferase activity