Description: Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_001482): 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]. Transcript (Including UTRs) Position: hg19 chr15:45,653,322-45,670,980 Size: 17,659 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr15:45,654,307-45,670,651 Size: 16,345 Coding Exon Count: 9
ID:GATM_HUMAN DESCRIPTION: RecName: Full=Glycine amidinotransferase, mitochondrial; EC=2.1.4.1; AltName: Full=L-arginine:glycine amidinotransferase; AltName: Full=Transamidinase; Flags: Precursor; FUNCTION: Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis. CATALYTIC ACTIVITY: L-arginine + glycine = L-ornithine + guanidinoacetate. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=2.0 uM for arginine; KM=3.0 uM for glycine; Vmax=0.44 umol/min/mg enzyme; PATHWAY: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 1/2. SUBUNIT: Homodimer. There is an equilibrium between the monomeric and dimeric forms, shifted towards the side of the monomer. INTERACTION: Q9D964:Gatm (xeno); NbExp=1; IntAct=EBI-2552594, EBI-2552599; SUBCELLULAR LOCATION: Isoform 1: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Note=Probably attached to the outer side of the inner membrane. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue, with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues. INDUCTION: Expression is elevated in the myocardium during heart failure, and decreased in inter-uterine growth restriction (IUGR)- associated placenta. DOMAIN: One chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta modules, which surround the central active site. DISEASE: Defects in GATM are the cause of arginine:glycine amidinotransferase deficiency (AGAT deficiency) [MIM:612718]. AGAT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. SIMILARITY: Belongs to the amidinotransferase family. SEQUENCE CAUTION: Sequence=BAG60595.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GATM";
Genetic Association Studies of Complex Diseases and Disorders
renal function and chronic kidney disease Kottgen ,et al. 2009, Multiple loci associated with indices of renal function and chronic kidney disease, Nature genetics 2009 .
[PubMed 19430482]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P50440
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
