• Gene id: 2628

Gene Summary

• Gene Symbol: GATM   Gene   UCSC   Ensembl
• Aliases: AGAT, AT, CCDS3
• Gene name: glycine amidinotransferase
• Alternate names: glycine amidinotransferase, mitochondrial, glycine amidinotransferase (L-arginine:glycine amidinotransferase), testicular secretory protein Li 19, transamidinase,
• Gene location: 15q21.1 (45402226: 45361123)     Exons: 13     NC_000015.10
• Gene summary(Entrez): This 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, t
• OMIM: 602360

Protein Summary

• Protein general information: P50440  
  • Name: Glycine amidinotransferase, mitochondrial (EC 2.1.4.1) (L arginine:glycine amidinotransferase) (Transamidinase)
  • Length: 423  
  • Mass: 48455
  • 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
• Sequence:

  MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYNEWDPL
  EEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRPDPIDWS
  LKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQ
  DYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPN
  PMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDAN
  EVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD

• Structural information:
  • Interpro: IPR033195  
  • PDB: 1JDW 1JDX 2JDW 2JDX 3JDW 4JDW 5JDW 6JDW 7JDW 8JDW 9JDW
  • PDBsum: 1JDW 1JDX 2JDW 2JDX 3JDW 4JDW 5JDW 6JDW 7JDW 8JDW 9JDW
  • STRING: ENSP00000379895
• Other Databases: GeneCards:  GATM  Malacards:  GATM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015067	amidinotransferase activity	IBA	molecular function
GO:0006601	creatine biosynthetic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0015068	glycine amidinotransferase activity	IDA	molecular function
GO:0015067	amidinotransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015068	glycine amidinotransferase activity	IEA	molecular function
GO:0015068	glycine amidinotransferase activity	IDA	molecular function
GO:0006601	creatine biosynthetic process	IDA	biological process
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0006600	creatine metabolic process	TAS	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0006601	creatine biosynthetic process	IEA	biological process
GO:0007275	multicellular organism development	IMP	biological process
GO:0006600	creatine metabolic process	IMP	biological process
GO:0007611	learning or memory	IMP	biological process
GO:0014889	muscle atrophy	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00330	Arginine and proline metabolism
hsa00260	Glycine, serine and threonine metabolism

Diseases

Associated diseases	References
Cerebral creatine deficiency syndrome	KEGG:H00849
Cerebral creatine deficiency syndrome	KEGG:H00849
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq