PEMT (phosphatidylethanolamine N-methyltransferase)

Gene

• Entrez ID: 10400
• Gene name: Phosphatidylethanolamine N-methyltransferase
• Gene symbol: PEMT
• Synonyms (NCBI Gene): PEAMT, PEMPT, PEMT2, PLMT, PNMT
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022625	hsa-miR-124-3p	Microarray	18668037
MIRT1224933	hsa-miR-1	CLIP-seq
MIRT1224934	hsa-miR-1257	CLIP-seq
MIRT1224935	hsa-miR-147	CLIP-seq
MIRT1224936	hsa-miR-206	CLIP-seq
MIRT1224937	hsa-miR-3911	CLIP-seq
MIRT1224938	hsa-miR-3940-5p	CLIP-seq
MIRT1224939	hsa-miR-4507	CLIP-seq
MIRT1224940	hsa-miR-4633-3p	CLIP-seq
MIRT1224941	hsa-miR-4790-3p	CLIP-seq
MIRT1224942	hsa-miR-613	CLIP-seq
MIRT1224943	hsa-miR-615-5p	CLIP-seq
MIRT1224944	hsa-miR-644	CLIP-seq
MIRT2687568	hsa-miR-1245b-5p	CLIP-seq
MIRT2687569	hsa-miR-1972	CLIP-seq
MIRT2687570	hsa-miR-3142	CLIP-seq
MIRT2687571	hsa-miR-3614-5p	CLIP-seq
MIRT2687572	hsa-miR-4252	CLIP-seq
MIRT2687573	hsa-miR-4260	CLIP-seq
MIRT2687574	hsa-miR-4435	CLIP-seq
MIRT2687575	hsa-miR-4459	CLIP-seq
MIRT2687576	hsa-miR-4650-5p	CLIP-seq
MIRT2687577	hsa-miR-4695-5p	CLIP-seq
MIRT2687578	hsa-miR-4755-3p	CLIP-seq
MIRT2687579	hsa-miR-485-5p	CLIP-seq
MIRT2687580	hsa-miR-486-3p	CLIP-seq
MIRT2687581	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000773	Function	Phosphatidyl-N-methylethanolamine N-methyltransferase activity	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0004608	Function	Phosphatidylethanolamine N-methyltransferase activity	IBA	21873635
GO:0004608	Function	Phosphatidylethanolamine N-methyltransferase activity	TAS
GO:0005739	Component	Mitochondrion	IDA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IBA	21873635
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	TAS
GO:0006686	Process	Sphingomyelin biosynthetic process	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008429	Function	Phosphatidylethanolamine binding	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032259	Process	Methylation	IEA
GO:0033273	Process	Response to vitamin	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042493	Process	Response to drug	IEA
GO:0043200	Process	Response to amino acid	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045471	Process	Response to ethanol	IEA
GO:0046498	Process	S-adenosylhomocysteine metabolic process	IEA
GO:0046500	Process	S-adenosylmethionine metabolic process	IEA
GO:0050747	Process	Positive regulation of lipoprotein metabolic process	IEA
GO:0080101	Function	Phosphatidyl-N-dimethylethanolamine N-methyltransferase activity	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	26113536

Other IDs

• MIM: 602391
• HGNC: 8830
• e!Ensembl: ENSG00000133027

Protein

• UniProt ID: Q9UBM1
• Protein name: Phosphatidylethanolamine N-methyltransferase (PEAMT) (PEMT) (EC 2.1.1.17) (EC 2.1.1.71) (PEMT2) (Phospholipid methyltransferase) (PLMT)
• Protein function: Catalyzes the three sequential steps of the methylation pathway for the biosynthesis of phosphatidylcholine, a critical and essential component for membrane structure (PubMed:12431977, PubMed:15927961). Uses S-adenosylmethionine (S-adenosyl-L-me
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04191	PEMT	88 → 192	Phospholipid methyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Primarily expressed in liver (at protein level). {ECO:0000269|PubMed:12431977}.
• Sequence:

  MTRLLGYVDPLDPSFVAAVITITFNPLYWNVVARWEHKTRKLSRAFGSPYLACYSLSVTI
  LLLNFLRSHCFTQAMLSQPRMESLDTPAAYSLGLALLGLGVVLVLSSFFALGFAGTFLGD
  YFGILKEARVTVFPFNILDNPMYWGSTANYLGWAIMHASPTGLLLTVLVALTYIVALLYE
  EPFTAEIYRQKASGSHKRS

• Sequence length: 199

Pathways

KEGG:

Glycerophospholipid metabolism
Metabolic pathways

Reactome:

Synthesis of PC

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	19647326, 17720317

Unknown
Disease term	Disease name	Evidence	References	Source
Coronary Heart Disease	Coronary Heart Disease			GWAS
Coronary artery disease	Coronary artery disease			GWAS
Diabetes	Diabetes			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	18230680, 24675476
Carcinoma Hepatocellular	Associate	39533594, 40500772
Chanarin Dorfman Syndrome	Associate	21059658
Choline Deficiency	Associate	21059658
Fatty Liver	Associate	36012560, 37240132, 37513629
Fibrosis	Associate	36012560
Gout	Associate	39533594
Hepatitis C	Associate	37240132
Infertility	Associate	21857689
Infertility Male	Associate	21857689
Inflammation	Associate	36012560
Liver Cirrhosis	Associate	36012560
Liver Failure	Associate	21059658
Metabolic Diseases	Associate	37513629
Multiple Organ Failure	Associate	16816108, 20861172, 24671709
Neural Tube Defects	Associate	25240073
Non alcoholic Fatty Liver Disease	Associate	36012560
Obesity	Associate	23724137, 31671528, 35163195
Skin Diseases	Associate	25759212
Skin Neoplasms	Associate	25759212
Spasms Infantile	Associate	35830182
Squamous Cell Carcinoma of Head and Neck	Associate	39442128
Urinary Bladder Neoplasms	Associate	24595004