• Gene id: 10400

Gene Summary

• Gene Symbol: PEMT   Gene   UCSC   Ensembl
• Aliases: PEAMT, PEMPT, PEMT2, PLMT, PNMT
• Gene name: phosphatidylethanolamine N-methyltransferase
• Alternate names: phosphatidylethanolamine N-methyltransferase, phospholipid methyltransferase,
• Gene location: 17p11.2 (17591986: 17505560)     Exons: 13     NC_000017.11
• Gene summary(Entrez): Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells
• OMIM: 602391

SNPs

rs7946

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.17506246C>T
NC_000017.10   g.17409560C>T
XM_006721418.4   c.571G>A
NM_148172.3   c.634G>A
NM_148172.2   c.634G>A
NM_007169.2   c.523G>A
NM_007169.3   c.523G>A
NM_001267552.1   c.665G>A
NM_001267552.2   c.665G>A
NM_001267551.1   c.568G>A
NM_001267551.2   c

Protein Summary

• Protein general information: Q9UBM1  
  • Name: Phosphatidylethanolamine N methyltransferase (PEAMT) (PEMT) (EC 2.1.1.17) (EC 2.1.1.71) (PEMT2) (Phospholipid methyltransferase) (PLMT)
  • Length: 199  
  • Mass: 22134
• Sequence:

  MTRLLGYVDPLDPSFVAAVITITFNPLYWNVVARWEHKTRKLSRAFGSPYLACYSLSVTILLLNFLRSHCFTQAM
  LSQPRMESLDTPAAYSLGLALLGLGVVLVLSSFFALGFAGTFLGDYFGILKEARVTVFPFNILDNPMYWGSTANY
  LGWAIMHASPTGLLLTVLVALTYIVALLYEEPFTAEIYRQKASGSHKRS

• Structural information:
  • Interpro: IPR024960  IPR007318  
  • Prosite: PS51599
  • STRING: ENSP00000255389
• Other Databases: GeneCards:  PEMT  Malacards:  PEMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006656	phosphatidylcholine biosynthetic process	IBA	biological process
GO:0004608	phosphatidylethanolamine N-methyltransferase activity	IBA	molecular function
GO:0006656	phosphatidylcholine biosynthetic process	IEA	biological process
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0004608	phosphatidylethanolamine N-methyltransferase activity	TAS	molecular function
GO:0000773	phosphatidyl-N-methylethanolamine N-methyltransferase activity	IEA	molecular function
GO:0004608	phosphatidylethanolamine N-methyltransferase activity	IEA	molecular function
GO:0080101	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity	IEA	molecular function
GO:0004608	phosphatidylethanolamine N-methyltransferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006656	phosphatidylcholine biosynthetic process	TAS	biological process
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0001835	blastocyst hatching	IEA	biological process
GO:0050747	positive regulation of lipoprotein metabolic process	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0033273	response to vitamin	IEA	biological process
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	IEA	molecular function
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0006656	phosphatidylcholine biosynthetic process	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0006686	sphingomyelin biosynthetic process	IEA	biological process
GO:0046500	S-adenosylmethionine metabolic process	IEA	biological process
GO:0046498	S-adenosylhomocysteine metabolic process	IEA	biological process
GO:0043200	response to amino acid	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0031526	brush border membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008429	phosphatidylethanolamine binding	IEA	molecular function
GO:0006650	glycerophospholipid metabolic process	IEA	biological process
GO:0004608	phosphatidylethanolamine N-methyltransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0000773	phosphatidyl-N-methylethanolamine N-methyltransferase activity	IEA	molecular function
GO:0006656	phosphatidylcholine biosynthetic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0004608	phosphatidylethanolamine N-methyltransferase activity	IEA	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0080101	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity	IEA	molecular function
GO:0006656	phosphatidylcholine biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq