• Gene id: 27232

Gene Summary

• Gene Symbol: GNMT   Gene   UCSC   Ensembl
• Aliases: HEL-S-182mP
• Gene name: glycine N-methyltransferase
• Alternate names: glycine N-methyltransferase, epididymis secretory sperm binding protein Li 182mP,
• Gene location: 6p21.1 (42960753: 42963879)     Exons: 6     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene
• OMIM: 606628

Protein Summary

• Protein general information: Q14749  
  • Name: Glycine N methyltransferase (EC 2.1.1.20)
  • Length: 295  
  • Mass: 32742
  • Tissue specificity: Abundant in liver.
• Sequence:

  MVDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAEYKAWLLGLLRQHGCQRVLDVACGTGVDSIML
  VEEGFSVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMTLDKDVPQSAEGGFDAVICLGNSFAHLPDCK
  GDQSEHRLALKNIASMVRAGGLLVIDHRNYDHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTV
  QVPGAGQDGSPGLSKFRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD

• Structural information:
  • Interpro: IPR014369  IPR041698  IPR029063  
  • Prosite: PS51600
  • PDB: 1R74 2AZT
  • PDBsum: 1R74 2AZT
  • STRING: ENSP00000361894
• Other Databases: GeneCards:  GNMT  Malacards:  GNMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0016594	glycine binding	IBA	molecular function
GO:0017174	glycine N-methyltransferase activity	IBA	molecular function
GO:0051289	protein homotetramerization	IBA	biological process
GO:1901052	sarcosine metabolic process	IBA	biological process
GO:1904047	S-adenosyl-L-methionine binding	IBA	molecular function
GO:0006111	regulation of gluconeogenesis	IBA	biological process
GO:0042802	identical protein binding	IBA	molecular function
GO:0046498	S-adenosylhomocysteine metabolic process	IBA	biological process
GO:0046500	S-adenosylmethionine metabolic process	IBA	biological process
GO:0051289	protein homotetramerization	IPI	biological process
GO:0017174	glycine N-methyltransferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005542	folic acid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0017174	glycine N-methyltransferase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0034641	cellular nitrogen compound metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051289	protein homotetramerization	IEA	biological process
GO:0017174	glycine N-methyltransferase activity	IEA	molecular function
GO:0016594	glycine binding	IEA	molecular function
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0046500	S-adenosylmethionine metabolic process	IEA	biological process
GO:0006555	methionine metabolic process	IEA	biological process
GO:0006111	regulation of gluconeogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0017174	glycine N-methyltransferase activity	IDA	molecular function
GO:0016594	glycine binding	IDA	molecular function
GO:0046500	S-adenosylmethionine metabolic process	IDA	biological process
GO:0006464	cellular protein modification process	NAS	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Hypermethioninemia	KEGG:H00184
Hypermethioninemia	KEGG:H00184
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881