PAICS Gene Summary [Human]
This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PAICS |
| Official Name | phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase [Source:HGNC Symbol;Acc:HGNC:8587] |
| Ensembl ID | ENSG00000128050 |
| Bio databases IDs | |
| Aliases | phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase |
| Synonyms | ADE2, ADE2H1, AIRC, LOC100506514, LOC100508258, LOC100910308, LOC102553031, PAICSD, PAIS, phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase |
| 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 PAICS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Myb/SANT-like DNA-binding domain
- phosphoribosylaminoimidazole carboxylase
- 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide (SAICAR) synthase
- GT1, myb-like, SANT family
- SAICAR synthetase
- phosphoribosylaminoimidazolesuccinocarboxamide synthase
- enzyme
- protein binding
- identical protein binding
- AIR carboxylase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-small cell lung cancer
- organismal death
- non-small cell lung carcinoma
- phosphoribosylaminoimidazole carboxylase deficiency
- colon cancer
regulates
- GMP
- purine base
role in cell
- proliferation
- survival
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PAICS 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
- 'de novo' IMP biosynthetic process
- purine base biosynthetic process
- GMP biosynthetic process
- 'de novo' XMP biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- 5-amino-4-imidazole carboxylate lyase activity
- identical protein binding
- protein binding
- phosphoribosylaminoimidazole carboxylase activity
- cadherin binding
- phosphoribosylaminoimidazolesuccinocarboxamide synthase activity