ARG1 Gene Summary [Human]
Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Details
| Type | Retained Intron |
| Official Symbol | ARG1 |
| Official Name | arginase 1 [Source:HGNC Symbol;Acc:HGNC:663] |
| Ensembl ID | ENSG00000118520 |
| Bio databases IDs | |
| Aliases | arginase 1, arginase-1 |
| Synonyms | AI, Arginase-1, ARGINASE I, arginase, liver, Hyperargininaemia, Hyperargininemia, PGIF |
| 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 ARG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- arginase
- enzyme
- protein binding
- manganese ion binding
- identical protein binding
- agmatinase
- Arginase-like and histone-like hydrolases
Pathways
Biological processes and signaling networks where the ARG1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- metastatic colorectal cancer
- hypoglycemia
- septic shock
- epithelial cancer
- epithelial neoplasia
- benign neoplasia
- papillomatosis
- weight loss
- sepsis
role in cell
- proliferation
- apoptosis
- production in
- expression in
- outgrowth
- assembly
- activation
- migration
- quantity
- cellular infiltration by
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
- secretory granule lumen
- azurophil granule lumen
- Extracellular Space
- cytosol
- mitochondrial outer membrane
- gelatinase granules
- azurophil granules
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- arginine catabolic process
- innate immune response
- urea cycle
- negative regulation of T cell proliferation
- adaptive immune response
- negative regulation of activated T cell proliferation
- negative regulation of T-helper 2 cell cytokine production
- negative regulation of interferon-gamma-mediated signaling pathway
- defense response to protozoan
- positive regulation of neutrophil mediated killing of fungus
- arginine catabolic process to ornithine
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- specific granule lumen
- cytoplasm
- cytosol
- extracellular region
- azurophil granule lumen
Molecular Function
What the gene product does at the molecular level
- protein binding
- arginase activity
- manganese ion binding