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MGP001166

UniProt Annotations

Entry Information
Gene Nameglycine amidinotransferase (L-arginine:glycine amidinotransferase)
Protein EntryGATM_HUMAN
UniProt IDP50440
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Mitochondrial; IsoId=P50440-1; Sequence=Displayed; Name=2; Synonyms=Cytoplasmic; IsoId=P50440-2; Sequence=VSP_000235; Name=3; IsoId=P50440-3; Sequence=VSP_039871;
Biophysicochemical PropertiesKinetic parameters: KM=2.0 uM for arginine {ECO:0000269|PubMed:3800397, ECO:0000269|PubMed:9266688}; KM=3.0 uM for glycine {ECO:0000269|PubMed:3800397, ECO:0000269|PubMed:9266688}; Vmax=0.44 umol/min/mg enzyme {ECO:0000269|PubMed:3800397, ECO:0000269|PubMed:9266688};
Catalytic ActivityL-arginine + glycine = L-ornithine + guanidinoacetate. {ECO:0000269|PubMed:3800397}.
DiseaseCerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]: 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. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. {ECO:0000269|PubMed:11555793, ECO:0000269|PubMed:20682460, ECO:0000269|PubMed:22386973, ECO:0000269|PubMed:23660394, ECO:0000269|PubMed:23770102}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainOne chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta modules, which surround the central active site.
FunctionCatalyzes 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. {ECO:0000269|PubMed:16125225, ECO:0000269|PubMed:16614068, ECO:0000269|PubMed:16820567}.
InductionExpression is elevated in the myocardium during heart failure, and decreased in inter-uterine growth restriction (IUGR)- associated placenta. {ECO:0000269|PubMed:16125225, ECO:0000269|PubMed:16820567}.
InteractionQ9D964:Gatm (xeno); NbExp=1; IntAct=EBI-2552594, EBI-2552599;
PathwayAmine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 1/2.
Sequence CautionSequence=BAG60595.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the amidinotransferase family. {ECO:0000305}.
Subcellular LocationIsoform 1: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Note=Probably attached to the outer side of the inner membrane.
Subcellular LocationIsoform 2: Cytoplasm.
SubunitHomodimer. There is an equilibrium between the monomeric and dimeric forms, shifted towards the side of the monomer. {ECO:0000269|PubMed:3800397}.
Tissue SpecificityExpressed 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. {ECO:0000269|PubMed:16125225, ECO:0000269|PubMed:16614068, ECO:0000269|PubMed:16820567}.
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