GART Gene: Phosphoribosylglycinamide Formyltransferase
Comprehensive guide to the GART gene, its function, associated diseases, expression, and mutations.
Gene Information Card
| Symbol | GART |
|---|---|
| Full Name | Phosphoribosylglycinamide Formyltransferase, Phosphoribosylglycinamide Synthetase, Phosphoribosylaminoimidazole Synthetase |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 2618 ncbi.nlm.nih.gov/gene/2618 |
| Ensembl ID | ENSG00000159131 |
| UniProt ID | P22102 |
| OMIM ID | 138440 |
| HGNC ID | 4163 |
| Aliases | AIR, GARS, PAIS, PGFT, PRGS |
Description
The GART gene encodes a trifunctional enzyme that catalyzes three steps in the de novo purine biosynthesis pathway: phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, and phosphoribosylaminoimidazole synthetase. This enzyme is essential for the production of purine nucleotides, which are building blocks of DNA and RNA.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| GART-related disorder (neurodevelopmental disorder with microcephaly, seizures, and developmental delay) | Loss-of-function mutations in GART impair purine biosynthesis, leading to cellular nucleotide deficiency and neurological symptoms. | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and altered expression of GART may contribute to tumorigenesis by affecting nucleotide metabolism. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 25.6 | High |
| Kidney | 18.3 | High |
| Brain | 12.1 | Medium |
| Heart | 10.5 | Medium |
| Lung | 8.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 30.2 | Liver cancer cell line |
| HEK293 | 22.4 | Embryonic kidney cells |
| HeLa | 15.7 | Cervical cancer cells |
| A549 | 12.3 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Reduced enzyme activity; reported in ClinVar |
| c.500G>A (p.Arg167Gln) | Missense | Somatic (0.1% in COSMIC) | Unknown functional effect; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish enzyme activity, leading to purine biosynthesis deficiency and neurodevelopmental phenotypes.
Gain of Function (GOF)
Not well-documented; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Not reported for GART.
View complete mutation data：
Gene Ontology (GO)
| • phosphoribosylglycinamide formyltransferase activity | • phosphoribosylglycinamide synthetase activity |
| • phosphoribosylaminoimidazole synthetase activity | • purine nucleotide biosynthetic process |
| • cytoplasm |
Pathways
• De novo purine biosynthesis (KEGG: hsa00230)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
The GART protein is a trifunctional enzyme (110 kDa) localized in the cytoplasm. It catalyzes three sequential reactions in the de novo purine biosynthesis pathway: (1) phosphoribosylglycinamide formyltransferase (GAR transformylase), (2) phosphoribosylglycinamide synthetase (GAR synthetase), and (3) phosphoribosylaminoimidazole synthetase (AIR synthetase). This enzyme is critical for providing purine nucleotides for DNA and RNA synthesis, especially in rapidly dividing cells.
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