InnateDB Protein
|
IDBP-587421.3
|
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
|
ENSP00000454008
|
InnateDB Gene
|
IDBG-10362 (GATM)
|
Protein Structure
|
|
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 |
|
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
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0015068
|
glycine amidinotransferase activity
|
GO:0016813
|
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P50440
|
PhosphoSite |
PhosphoSite-P50440
|
TrEMBL |
H0YN43
|
UniProt Splice Variant |
|
Entrez Gene |
2628
|
UniGene |
Hs.75335
|
RefSeq |
|
HUGO |
HGNC:4175
|
OMIM |
602360
|
CCDS |
|
HPRD |
03838
|
IMGT |
|
EMBL |
AC025580
AK223585
AK294995
AK298350
BC004141
S68805
X86401
|
GenPept |
AAB29892
AAH04141
BAD97305
BAG58060
BAG60595
CAA60153
|
|
|