ARG1
Arginase 1: Key Enzyme in Urea Cycle and Immune Regulation
Gene Information Card
| Symbol | ARG1 |
|---|---|
| Full Name | Arginase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q23.2 |
| NCBI Gene ID | 383 ncbi.nlm.nih.gov/gene/383 |
| Ensembl ID | ENSG00000118520 |
| UniProt ID | P05089 |
| OMIM ID | 608313 |
| HGNC ID | 663 |
| Aliases | ARG1, arginase, liver-type arginase, arginase-1 |
Description
The ARG1 gene encodes arginase 1, a cytosolic enzyme that catalyzes the hydrolysis of L-arginine to L-ornithine and urea, the final step of the urea cycle. This enzyme is primarily expressed in the liver and plays a critical role in nitrogen waste elimination. Mutations in ARG1 cause arginase deficiency (hyperargininemia), an autosomal recessive disorder characterized by elevated arginine levels and neurological symptoms. ARG1 also modulates immune responses by regulating arginine availability for nitric oxide synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Arginase deficiency (Hyperargininemia) | Loss-of-function mutations in ARG1 impair urea cycle function, leading to accumulation of arginine and ammonia. | ClinVar, OMIM |
| Cerebral palsy (secondary) | Chronic hyperammonemia from ARG1 deficiency can cause neurological damage resembling cerebral palsy. | OMIM |
| Hypertension (potential) | Altered arginine metabolism via ARG1 may influence nitric oxide production and vascular tone. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 100.0 | High |
| Kidney | 2.5 | Low |
| Small intestine | 1.2 | Low |
| Spleen | 0.8 | Low |
| Lung | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 120.0 | Hepatocellular carcinoma cell line |
| HEK293 (embryonic kidney) | 3.0 | Low expression |
| THP-1 (monocyte) | 1.5 | Macrophage-like cells |
| Jurkat (T-cell) | 0.2 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.77G>A (p.Arg26Gln) | Missense | Rare | Reduced enzyme activity; associated with arginase deficiency |
| c.365G>A (p.Arg122His) | Missense | Rare | Loss of function; reported in hyperargininemia |
| c.703G>A (p.Gly235Arg) | Missense | Rare | Impaired catalytic activity |
| c.841G>A (p.Gly281Arg) | Missense | Rare | Severe enzyme deficiency |
Mutation functional classification
Loss of Function (LOF)
Most ARG1 mutations are loss-of-function, reducing or abolishing arginase activity, leading to arginase deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ARG1.
Dominant Negative (DN)
No dominant-negative mutations have been described; the disorder is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • arginase activity (GO:0004053) | • arginine metabolic process (GO:0006525) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • nitric oxide biosynthetic process (GO:0006809) | • arginine catabolic process to ornithine (GO:0019541) |
| • protein homooligomerization (GO:0051260) |
Pathways
• Urea cycle (Reactome: R-HSA-70635)
• Arginine and proline metabolism (KEGG: hsa00330)
• Nitric oxide metabolism (Reactome: R-HSA-202131)
Protein Summary
Arginase 1 is a homotrimeric manganese metalloenzyme that converts L-arginine to L-ornithine and urea. It is predominantly expressed in the liver and is essential for ammonia detoxification. The protein consists of 322 amino acids and has a molecular weight of approximately 35 kDa. Its activity is regulated by substrate availability and post-translational modifications. In addition to its metabolic role, ARG1 modulates immune cell function by competing with nitric oxide synthase for arginine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARG1 Knockout HEK293 Cell Line | EDJ-KQ4083 | Human | 383 | Details Get a Quote |
| TRARG1 Knockout HEK293 Cell Line | EDJ-KQ15908 | Human | 286753 | Details Get a Quote |
| ARG1 Knockout HeLa Cell Line | EDJ-KQ52653 | Human | 383 | Details Get a Quote |
| TRARG1 Knockout HeLa Cell Line | EDJ-KQ59564 | Human | 286753 | Details Get a Quote |
| ARG1 Knockout A-549 Cell Line | EDJ-KQ61127 | Human | 383 | Details Get a Quote |
| TRARG1 Knockout A-549 Cell Line | EDJ-KQ68030 | Human | 286753 | Details Get a Quote |
| ARG1 Knockout HCT 116 Cell Line | EDJ-KQ69614 | Human | 383 | Details Get a Quote |
| TRARG1 Knockout HCT 116 Cell Line | EDJ-KQ76410 | Human | 286753 | Details Get a Quote |
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