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Identification
HMDB Protein ID HMDBP00463
Secondary Accession Numbers
  • 5702
  • HMDBP03493
Name Glycine amidinotransferase, mitochondrial
Synonyms
  1. L-arginine:glycine amidinotransferase
  2. Transamidinase
Gene Name GATM
Protein Type Enzyme
Biological Properties
General Function Amino acid transport and metabolism
Specific 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.
Pathways
  • 3-Phosphoglycerate dehydrogenase deficiency
  • Arginine and Proline Metabolism
  • Arginine and proline metabolism
  • Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
  • creatine biosynthesis
  • Creatine deficiency, guanidinoacetate methyltransferase deficiency
  • Dihydropyrimidine Dehydrogenase Deficiency (DHPD)
  • Dimethylglycine Dehydrogenase Deficiency
  • Dimethylglycine Dehydrogenase Deficiency
  • Glycine and Serine Metabolism
  • Glycine, serine and threonine metabolism
  • Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)
  • Hyperglycinemia, non-ketotic
  • Hyperornithinemia with gyrate atrophy (HOGA)
  • Hyperornithinemia-hyperammonemia-homocitrullinuria [HHH-syndrome]
  • Hyperprolinemia Type I
  • Hyperprolinemia Type II
  • L-arginine:glycine amidinotransferase deficiency
  • Non Ketotic Hyperglycinemia
  • Ornithine Aminotransferase Deficiency (OAT Deficiency)
  • Prolidase Deficiency (PD)
  • Prolinemia Type II
  • Sarcosinemia
Reactions
L-Arginine + Glycine → Ornithine + Guanidoacetic acid details
L-Arginine + gamma-Aminobutyric acid → Ornithine + 4-Guanidinobutanoic acid details
GO Classification
Biological Process
embryo development
cellular nitrogen compound metabolic process
response to oxidative stress
response to nutrient
creatine biosynthetic process
tissue regeneration
response to peptide hormone stimulus
response to mercury ion
Cellular Component
mitochondrial inner membrane
mitochondrial intermembrane space
Molecular Function
glycine amidinotransferase activity
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines
Cellular Location
  1. Cytoplasm
  2. Peripheral membrane protein
  3. Mitochondrion inner membrane
  4. Intermembrane side (Potential)
Gene Properties
Chromosome Location 15
Locus 15q21.1
SNPs GATM
Gene Sequence
>1272 bp
ATGCTGCGGGTGCGGTGTCTGCGCGGCGGGAGCCGCGGCGCCGAGGCGGTGCACTACATC
GGATCTCGGCTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAG
GCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTG
CCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTG
GGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAGGCCAACACATAT
GAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTG
AAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACA
GTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCT
ACGGGTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATC
GAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATC
AAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGAT
GAGCTTTATAACCAGGATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCT
CAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGA
GCTGGAAGAGATATTTTTGCACAGAGAAGCCAGGTTACAAACTACCTAGGCATTGAATGG
ATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAAT
CCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCT
GACCGACCATGTCACCAGATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCT
CCAACACCAATCATCCCAGACGATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATG
AATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAA
AAGATGTTTGAAAAGCTGGGTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCC
CTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCCTACAGTCC
TACTTGGACTGA
Protein Properties
Number of Residues 423
Molecular Weight 48455.01
Theoretical pI 8.051
Pfam Domain Function Not Available
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Glycine amidinotransferase, mitochondrial
MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPL
PKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHL
KKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEII
EAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAA
QGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPN
PMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSM
NVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQS
YLD
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID P50440
UniProtKB/Swiss-Prot Entry Name GATM_HUMAN
PDB IDs
GenBank Gene ID S68805
GeneCard ID GATM
GenAtlas ID GATM
HGNC ID HGNC:4175
References
General References
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