Endometriosis Knowledgebase

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Gene id

10400

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (11806102: 11785729) Exons: 13 NC_000001.11

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 converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]

OMIM

602391

SNPs

rs4244593

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000679.2   g.17516904T>A
CM000679.2   g.17516904T>G
NC_000017.10   g.17420218T>G
NC_000017.11   g.17516904T>A
NC_000017.11   g.17516904T>G
NM_001267551.1   c.255-4250A>C
NM_001267551.1   c.255-4250A>T
NM_001267552.1   c.321-4250A>C
NM_001267552.1   c.321-4250A>T
NM_007169.2   c.210-4250A>C
NM_007169.2   c.210-4250A>T
NM_148172.2   c.321-4250A>C
NM_148172.2   c.321-4250A>T
NM_148173.1   c.210-4250A>C
NM_148173.1   c.210-4250A>T

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: 22,134

Sequence

MTRLLGYVDPLDPSFVAAVITITFNPLYWNVVARWEHKTRKLSRAFGSPYLACYSLSVTILLLNFLRSHCFTQAM
LSQPRMESLDTPAAYSLGLALLGLGVVLVLSSFFALGFAGTFLGDYFGILKEARVTVFPFNILDNPMYWGSTANY
LGWAIMHASPTGLLLTVLVALTYIVALLYEEPFTAEIYRQKASGSHKRS

Structural information

Interpro:	IPR024960 IPR007318
Prosite:	PS51599
Pfam:	PF04191
STRING:	ENSP00000255389;

Other Databases

GeneCards: PEMT; Malacards: PEMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000773	phosphatidyl-N-methyletha nolamine N-methyltransfer ase activity	IBA	molecular_function
GO:0004608	phosphatidylethanolamine N-methyltransferase activ ity	TAS	molecular_function
GO:0005789	endoplasmic reticulum mem brane	IBA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006629	lipid metabolic process	TAS	biological_process
GO:0006656	phosphatidylcholine biosy nthetic process	IEA	biological_process
GO:0006656	phosphatidylcholine biosy nthetic process	TAS	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0008429	phosphatidylethanolamine binding	IEA	molecular_function
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0031526	brush border membrane	IEA	cellular_component
GO:0031966	mitochondrial membrane	IEA	cellular_component
GO:0032259	methylation	IEA	biological_process
GO:0033273	response to vitamin	IEA	biological_process
GO:0042383	sarcolemma	IEA	cellular_component
GO:0042493	response to drug	IEA	biological_process
GO:0043200	response to amino acid	IEA	biological_process
GO:0045471	response to ethanol	IEA	biological_process
GO:0046498	S-adenosylhomocysteine me tabolic process	IEA	biological_process
GO:0046500	S-adenosylmethionine meta bolic process	IEA	biological_process
GO:0050747	positive regulation of li poprotein metabolic proce ss	IEA	biological_process
GO:0080101	phosphatidyl-N-dimethylet hanolamine N-methyltransf erase activity	IBA	molecular_function
GO:1903955	positive regulation of pr otein targeting to mitoch ondrion	IMP	biological_process
GO:0000773	phosphatidyl-N-methyletha nolamine N-methyltransfer ase activity	IEA	molecular_function
GO:0000773	phosphatidyl-N-methyletha nolamine N-methyltransfer ase activity	IBA	molecular_function
GO:0004608	phosphatidylethanolamine N-methyltransferase activ ity	IEA	molecular_function
GO:0004608	phosphatidylethanolamine N-methyltransferase activ ity	IEA	molecular_function
GO:0004608	phosphatidylethanolamine N-methyltransferase activ ity	TAS	molecular_function
GO:0004608	phosphatidylethanolamine N-methyltransferase activ ity	TAS	molecular_function
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IBA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006629	lipid metabolic process	TAS	biological_process
GO:0006644	phospholipid metabolic pr ocess	IEA	biological_process
GO:0006650	glycerophospholipid metab olic process	IEA	biological_process
GO:0006656	phosphatidylcholine biosy nthetic process	IEA	biological_process
GO:0006656	phosphatidylcholine biosy nthetic process	IEA	biological_process
GO:0006656	phosphatidylcholine biosy nthetic process	TAS	biological_process
GO:0006656	phosphatidylcholine biosy nthetic process	TAS	biological_process
GO:0007584	response to nutrient	IEA	biological_process
GO:0008168	methyltransferase activit y	IEA	molecular_function
GO:0008170	N-methyltransferase activ ity	IEA	molecular_function
GO:0008283	cell proliferation	TAS	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0008429	phosphatidylethanolamine binding	IEA	molecular_function
GO:0008654	phospholipid biosynthetic process	IEA	biological_process
GO:0008757	S-adenosylmethionine-depe ndent methyltransferase a ctivity	IEA	molecular_function
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016740	transferase activity	IEA	molecular_function
GO:0031526	brush border membrane	IEA	cellular_component
GO:0031966	mitochondrial membrane	IEA	cellular_component
GO:0032259	methylation	IEA	biological_process
GO:0033273	response to vitamin	IEA	biological_process
GO:0042383	sarcolemma	IEA	cellular_component
GO:0042493	response to drug	IEA	biological_process
GO:0043200	response to amino acid	IEA	biological_process
GO:0045471	response to ethanol	IEA	biological_process
GO:0046498	S-adenosylhomocysteine me tabolic process	IEA	biological_process
GO:0046500	S-adenosylmethionine meta bolic process	IEA	biological_process
GO:0050747	positive regulation of li poprotein metabolic proce ss	IEA	biological_process
GO:0080101	phosphatidyl-N-dimethylet hanolamine N-methyltransf erase activity	IEA	molecular_function
GO:0080101	phosphatidyl-N-dimethylet hanolamine N-methyltransf erase activity	IBA	molecular_function
GO:1903955	positive regulation of pr otein targeting to mitoch ondrion	IMP	biological_process
GO:0000773	phosphatidyl-N-methyletha nolamine N-methyltransfer ase activity	IBA	molecular_function
GO:0004608	phosphatidylethanolamine N-methyltransferase activ ity	TAS	molecular_function
GO:0004608	phosphatidylethanolamine N-methyltransferase activ ity	TAS	molecular_function
GO:0005789	endoplasmic reticulum mem brane	IBA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006629	lipid metabolic process	TAS	biological_process
GO:0006656	phosphatidylcholine biosy nthetic process	TAS	biological_process
GO:0006656	phosphatidylcholine biosy nthetic process	TAS	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0080101	phosphatidyl-N-dimethylet hanolamine N-methyltransf erase activity	IBA	molecular_function
GO:1903955	positive regulation of pr otein targeting to mitoch ondrion	IMP	biological_process

KEGG pathways

hsa00564 Glycerophospholipid metabolism
hsa01100 Metabolic pathways

Diseases

Associated diseases	References
Schizophrenia	GAD17720317
Schizophrenia	GAD19647326
Liver disease	GAD16051693
Diabetes	GAD20628086
Coronary artery disease	GAD21378990
Cleft Lip	GAD20662904
Choline deficiency	GAD20861172
Breast cancer	GAD18230680
Endometriosis	PubMed21429654

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21429654	Endometrio sis	BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752),�PEMT�(rs4244593 and rs4646406) an		310(163 women w ith endometrios is, 150 control s)		BHMT BHMT2 CBS CHDH CHKA MTHFD1 MTHFR MTR MTRR PCYT1A �PEMT TCN	Show abstract