InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GATM

Summary

InnateDB Protein

IDBP-237025.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GATM

Protein Name

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

Synonyms

AGAT; AT; CCDS3;

Species

Homo sapiens

Ensembl Protein

ENSP00000379895

InnateDB Gene

IDBG-10362 (GATM)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:16125225, ECO:0000269PubMed:16614068, ECO:0000269PubMed:16820567}.

Subcellular Localization

Isoform 1: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Note=Probably attached to the outer side of the inner membrane.Isoform 2: Cytoplasm.

Disease Associations

Cerebral 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:0000269PubMed:11555793, ECO:0000269PubMed:20682460, ECO:0000269PubMed:22386973, ECO:0000269PubMed:23770102}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:16125225, ECO:0000269PubMed:16614068, ECO:0000269PubMed:16820567}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0015067	amidinotransferase activity
GO:0015068	glycine amidinotransferase activity
GO:0016813	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines

Biological Process

GO:0006600	creatine metabolic process
GO:0006601	creatine biosynthetic process
GO:0006979	response to oxidative stress
GO:0007584	response to nutrient
GO:0010033	response to organic substance
GO:0034641	cellular nitrogen compound metabolic process
GO:0042246	tissue regeneration
GO:0043434	response to peptide hormone
GO:0044281	small molecule metabolic process
GO:0046689	response to mercury ion