• Gene id: 2593

Gene Summary

• Gene Symbol: GAMT   Gene   UCSC   Ensembl
• Aliases: CCDS2, HEL-S-20, PIG2, TP53I2
• Gene name: guanidinoacetate N-methyltransferase
• Alternate names: guanidinoacetate N-methyltransferase, epididymis secretory protein Li 20,
• Gene location: 19p13.3 (1401569: 1397025)     Exons: 6     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to cre
• OMIM: 601240

Protein Summary

• Protein general information: Q14353  
  • Name: Guanidinoacetate N methyltransferase (EC 2.1.1.2)
  • Length: 236  
  • Mass: 26,318
• Sequence:

  MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAA
  SKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFN
  FIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAF
  PQMITPLVTKG

• Structural information:
  • Protein Domains: RMT2. (13-236)
  • Interpro: IPR016550  IPR026480  IPR029063  
  • Prosite: PS51559
  • PDB: 3ORH
  • PDBsum: 3ORH
  • STRING: ENSP00000403536
• Other Databases: GeneCards:  GAMT  Malacards:  GAMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006600	creatine metabolic process	TAS	biological process
GO:0006601	creatine biosynthetic process	IEA	biological process
GO:0006601	creatine biosynthetic process	IDA	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0030731	guanidinoacetate N-methyltransferase activity	IMP	molecular function
GO:0032259	methylation	IEA	biological process
GO:0040014	regulation of multicellular organism growth	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0046498	S-adenosylhomocysteine metabolic process	IBA	biological process
GO:0046500	S-adenosylmethionine metabolic process	IBA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:1990402	embryonic liver development	IEA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006600	creatine metabolic process	TAS	biological process
GO:0006601	creatine biosynthetic process	IEA	biological process
GO:0006601	creatine biosynthetic process	IEA	biological process
GO:0006601	creatine biosynthetic process	IDA	biological process
GO:0006601	creatine biosynthetic process	TAS	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	IEA	molecular function
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0030731	guanidinoacetate N-methyltransferase activity	IEA	molecular function
GO:0030731	guanidinoacetate N-methyltransferase activity	IEA	molecular function
GO:0030731	guanidinoacetate N-methyltransferase activity	IEA	molecular function
GO:0030731	guanidinoacetate N-methyltransferase activity	IMP	molecular function
GO:0032259	methylation	IEA	biological process
GO:0040014	regulation of multicellular organism growth	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0046498	S-adenosylhomocysteine metabolic process	IEA	biological process
GO:0046498	S-adenosylhomocysteine metabolic process	IBA	biological process
GO:0046500	S-adenosylmethionine metabolic process	IEA	biological process
GO:0046500	S-adenosylmethionine metabolic process	IBA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:1990402	embryonic liver development	IEA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006600	creatine metabolic process	TAS	biological process
GO:0006601	creatine biosynthetic process	IDA	biological process
GO:0006601	creatine biosynthetic process	TAS	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0030731	guanidinoacetate N-methyltransferase activity	IMP	molecular function
GO:0046498	S-adenosylhomocysteine metabolic process	IBA	biological process
GO:0046500	S-adenosylmethionine metabolic process	IBA	biological process
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Spinal dysraphism	GAD: 19161160
Cerebral creatine deficiency syndrome	OMIM: 601240
Male factor infertility	MIK: 21190923
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 21190923
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21190923	Male infertility				Male infertility	GAMT
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray