AGXT Gene Summary [Human]
This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | AGXT |
| Official Name | alanine--glyoxylate and serine--pyruvate aminotransferase [Source:HGNC Symbol;Acc:HGNC:341] |
| Ensembl ID | ENSG00000172482 |
| Bio databases IDs | |
| Aliases | alanine--glyoxylate and serine--pyruvate aminotransferase, oxalosis I, primary hyperoxaluria type 1, L-alanine: glyoxylate aminotransferase 1, glycolicaciduria |
| Synonyms | AGT, AGT1, AGXT1, alanine--glyoxylate aminotransferase, PH1, Ser-PyrAT, SPAT, SPT, TLH6 |
| 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 AGXT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Aminotransferase class-V
- pyridoxal phosphate binding
- protein homodimerization
- AAT_I
- enzyme
- protein binding
- Aminotransferase class I and II
- transaminase
- serine-pyruvate transaminase
- identical protein binding
- alanine-glyoxylate transaminase
- amino acid binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- morbid obesity
- epithelial cancer
- primary hyperoxaluria type I
- liver cancer
- primary hyperoxaluria
- hepatitis B virus-related hepatocellular carcinoma
- hyperoxaluria
- hereditary disorder
- alanine-glyoxylate aminotransferase deficiency
- nephrosis
role in cell
- accumulation in
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
- peroxisomal matrix
- intracellular membrane-bounded organelle
- Mitochondria
- cytosol
- mitochondrial matrix
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AGXT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Notch signaling pathway
- glyoxylate metabolic process
- glycine biosynthetic process, by transamination of glyoxylate
- L-serine metabolic process
- L-alanine catabolic process
- glyoxylate catabolic process
- L-cysteine catabolic process
- oxalic acid secretion
Cellular Component
Where in the cell the gene product is active
- peroxisome
- intracellular membrane-bounded organelle
- cytosol
- peroxisomal matrix
Molecular Function
What the gene product does at the molecular level
- pyridoxal phosphate binding
- identical protein binding
- protein homodimerization activity
- protein binding
- transaminase activity
- serine-pyruvate transaminase activity
- alanine-glyoxylate transaminase activity
- amino acid binding