• Gene id: 275

Gene Summary

• Gene Symbol: AMT   Gene   UCSC   Ensembl
• Aliases: GCE, GCST, GCVT, NKH
• Gene name: aminomethyltransferase
• Alternate names: aminomethyltransferase, mitochondrial, glycine cleavage system T protein, nonketotic hyperglycinemia,
• Gene location: 3p21.31 (49422472: 49416777)     Exons: 9     NC_000003.12
• Gene summary(Entrez): This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by
• OMIM: 604895

Protein Summary

• Protein general information: P48728  
  • Name: Aminomethyltransferase, mitochondrial (EC 2.1.2.10) (Glycine cleavage system T protein) (GCVT)
  • Length: 403  
  • Mass: 43946
• Sequence:

  MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLAHGGKMVAFAGWSLPVQYRDSHTDSHLHTRQH
  CSLFDVSHMLQTKILGSDRVKLMESLVVGDIAELRPNQGTLSLFTNEAGGILDDLIVTNTSEGHLYVVSNAGCWE
  KDLALMQDKVRELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPFMTSAVMEVFGVSGCRVTRCGY
  TGEDGVEISVPVAGAVHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEHTTPVEGSLSWTLGKRRRAAM
  DFPGAKVIVPQLKGRVQRRRVGLMCEGAPMRAHSPILNMEGTKIGTVTSGCPSPSLKKNVAMGYVPCEYSRPGTM
  LLVEVRRKQQMAVVSKMPFVPTNYYTLK

• Structural information:
  • Interpro: IPR006223  IPR028896  IPR013977  IPR006222  IPR029043   IPR027266  
  • PDB: 1WSR 1WSV
  • PDBsum: 1WSR 1WSV
  • STRING: ENSP00000273588
• Other Databases: GeneCards:  AMT  Malacards:  AMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0019464	glycine decarboxylation via glycine cleavage system	IBA	biological process
GO:0004047	aminomethyltransferase activity	IBA	molecular function
GO:0005739	mitochondrion	IC	cellular component
GO:0004047	aminomethyltransferase activity	IMP	molecular function
GO:0019464	glycine decarboxylation via glycine cleavage system	IMP	biological process
GO:0004047	aminomethyltransferase activity	IEA	molecular function
GO:0006546	glycine catabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008483	transaminase activity	IEA	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0006546	glycine catabolic process	TAS	biological process
GO:0004047	aminomethyltransferase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0004047	aminomethyltransferase activity	TAS	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00260	Glycine, serine and threonine metabolism
hsa00630	Glyoxylate and dicarboxylate metabolism
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Nonketotic hyperglycinemia	KEGG:H00191
Nonketotic hyperglycinemia	KEGG:H00191
Glycine encephalopathy	PMID:9600239
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881