PAICS Gene
Phosphoribosylaminoimidazole Carboxylase and Phosphoribosylaminoimidazolesuccinocarboxamide Synthase
Gene Information Card
| Symbol | PAICS |
|---|---|
| Full Name | Phosphoribosylaminoimidazole Carboxylase and Phosphoribosylaminoimidazolesuccinocarboxamide Synthase |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 10606 ncbi.nlm.nih.gov/gene/10606 |
| Ensembl ID | ENSG00000163131 |
| UniProt ID | P22234 |
| OMIM ID | 172439 |
| HGNC ID | 8587 |
| Aliases | AIRC, PAIS, ADE2, PRAT, PRGS |
Description
PAICS encodes a bifunctional enzyme that catalyzes the sixth and seventh steps of de novo purine biosynthesis: the carboxylation of 5-aminoimidazole ribonucleotide (AIR) to 5-aminoimidazole-4-carboxylate ribonucleotide (CAIR) and the subsequent condensation of CAIR with aspartate to form 5-aminoimidazole-4-(N-succinylocarboxamide) ribonucleotide (SAICAR). This gene is essential for purine nucleotide synthesis and cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression of PAICS promotes purine synthesis and tumor growth | PMID: 25977310 |
| Breast Cancer | PAICS upregulation correlates with poor prognosis and increased proliferation | PMID: 28723885 |
| Lung Adenocarcinoma | PAICS amplification drives nucleotide metabolism and tumorigenesis | PMID: 31073040 |
| Glioma | PAICS expression is elevated and associated with malignant progression | PMID: 31570863 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Bone Marrow | 25.2 | High |
| Lymph Node | 20.1 | High |
| Brain | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 32.1 | Embryonic kidney, high expression |
| HeLa | 28.7 | Cervical carcinoma, high expression |
| A549 | 22.4 | Lung carcinoma, moderate expression |
| MCF7 | 18.9 | Breast carcinoma, moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | p.Met1Val, start loss, likely loss of function |
| c.287C>T | Nonsense | <0.01% | p.Arg96Ter, truncation, loss of function |
| c.1045G>A | Missense | 0.02% | p.Gly349Arg, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or cause premature stop codons are classified as loss-of-function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PAICS.
Dominant Negative (DN)
No dominant-negative mutations described for PAICS.
View complete mutation data：
Gene Ontology (GO)
Pathways
• De novo purine biosynthesis (Reactome: R-HSA-73817)
• Metabolism of nucleotides (Reactome: R-HSA-15869)
Protein Summary
PAICS is a bifunctional enzyme (55 kDa) that catalyzes two sequential steps in de novo purine biosynthesis: the ATP-dependent carboxylation of AIR to CAIR and the ATP-dependent condensation of CAIR with aspartate to form SAICAR. The protein is homodimeric and localizes to the cytoplasm. Its expression is tightly regulated in proliferating cells and is frequently upregulated in cancers to support nucleotide demand.
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