MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001166

Record overview

MGPD IDMGP001166
Gene ID2628
SpeciesHomo sapiens (Human)
Gene Nameglycine amidinotransferase (L-arginine:glycine amidinotransferase)
Gene Symbol GATM
SynonymsAT; AGAT; CCDS3;
Alternate namesglycine amidinotransferase, mitochondrial; transamidinase;
Chromosome15
Map Location15q21.1
EC Number2.1.4.1
SummaryThis 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. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for GATM

Proteins

glycine amidinotransferase, mitochondrial precursor
Refseq ID:NP_001473
Protein GI:4503933
UniProt ID:P50440
mRNA ID:NM_001482
Length:423
RefSeq Status:
MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTY
EKYWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSII
KDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPN
PMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANS
LGGGFHCWTCDVRRRGTLQSYLD
 
transit_peptide: 1..37
calculated_mol_wt: 4190
peptide sequence: 
MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQ

mat_peptide: 38..423
product: glycine amidinotransferase, mitochondrial
calculated_mol_wt: 44284
peptide sequence: 
STQAATASSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTE
GVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHK
LAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTI
ITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD
 
  logo