GATM Gene Summary [Human]
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GATM |
| Official Name | glycine amidinotransferase [Source:HGNC Symbol;Acc:HGNC:4175] |
| Ensembl ID | ENSG00000171766 |
| Bio databases IDs | |
| Aliases | glycine amidinotransferase, L-arginine:glycine amidinotransferase |
| Synonyms | 1810003P21Rik, AGAT, AT, CCDS3, FRTS, FRTS1, glycine amidinotransferase, glycine amidinotransferase (L-arginine:glycine amidinotransferase), L-arginine:Glycine Amidinotransferase, RFS |
| 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 GATM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycine amidinotransferase
- amidinotransferase
- amidinotransferase-like
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- lymphoma
- diabetes mellitus
- lymphomagenesis
- renal failure
- renal clear cell adenocarcinoma
- renal clear cell cancer
- major depression
- arginine:glycine amidinotransferase deficiency
- Fanconi renotubular syndrome type 1
role in cell
- response
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
- Mitochondria
- cytosol
- mitochondrial intermembrane space
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GATM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle atrophy
- creatine metabolic process
- creatine biosynthetic process
- learning or memory
Cellular Component
Where in the cell the gene product is active
- mitochondrial intermembrane space
- extracellular vesicular exosome
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- glycine amidinotransferase activity
- protein binding
- amidinotransferase activity