Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10400
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphatidylethanolamine N-methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PEMT
Synonyms (NCBI Gene) Gene synonyms aliases	PEAMT, PEMPT, PEMT2, PLMT, PNMT
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(27)

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

Show/Hide all(27)

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
GO:0004608	Function	Phosphatidylethanolamine N-methyltransferase activity	IEA
GO:0004608	Function	Phosphatidylethanolamine N-methyltransferase activity	TAS	9989271
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IBA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	TAS
GO:0006686	Process	Sphingomyelin biosynthetic process	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032259	Process	Methylation	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	26113536

MIM	HGNC	e!Ensembl
602391	8830	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

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism Metabolic pathways		Synthesis of PC

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Coronary Heart Disease	Coronary heart disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes, Triglyceride levels in non-type 2 diabetes	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

PEMT (phosphatidylethanolamine N-methyltransferase)