GATM (gene)

Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene.^[5][6]

AliasesGATM, AGAT, AT, CCDS3, glycine amidinotransferase, FRTS1

External IDsOMIM: 602360; MGI: 1914342; HomoloGene: 1136; GeneCards: GATM; OMA:GATM - orthologs

PDBOrtholog search: PDBe RCSB

Chr.Chromosome 15 (human)^[1]

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GATM
Identifiers
Aliases	GATM, AGAT, AT, CCDS3, glycine amidinotransferase, FRTS1
External IDs	OMIM: 602360; MGI: 1914342; HomoloGene: 1136; GeneCards: GATM; OMA:GATM - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1JDW, 1JDX, 2JDW, 2JDX, 3JDW, 4JDW, 5JDW, 6JDW, 7JDW, 8JDW, 9JDW
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 2.1.4.1 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q21.1 Start 45,361,124 bp[1] End 45,402,327 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 E5|2 60.63 cM Start 122,424,948 bp[2] End 122,441,784 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas right lobe of liver jejunal mucosa corpus callosum renal medulla kidney tubule trigeminal ganglion olfactory bulb spinal cord human kidney Top expressed in right kidney human kidney thoracic diaphragm primary visual cortex striatum of neuraxis hippocampus proper pancreas cerebellar cortex superior frontal gyrus olfactory bulb More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity glycine amidinotransferase activity amidinotransferase activity Cellular component membrane cytoplasm mitochondrial inner membrane extracellular exosome mitochondrial intermembrane space mitochondrion Biological process creatine biosynthetic process creatine metabolic process multicellular organism development learning or memory muscle atrophy positive regulation of cold-induced thermogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2628 67092 Ensembl ENSG00000171766 ENSMUSG00000027199 UniProt P50440 Q9D964 RefSeq (mRNA) NM_001482 NM_001321015 NM_025961 RefSeq (protein) NP_001307944 NP_001473 NP_080237 Location (UCSC) Chr 15: 45.36 – 45.4 Mb Chr 2: 122.42 – 122.44 Mb PubMed search [3] [4]
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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 mental retardation, language impairment, and behavioral disorders.^[6]