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FLASH GENE

Symbol

PEMT

contributors: npt/mct/pgu - updated : 23-09-2010

HGNC name	phosphatidylethanolamine N-methyltransferase
HGNC id	8830

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	like-sequence
STRUCTURE	86.12 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	Sp1 binds to the PEMT promoter, and this interaction decreases upon differentiation to adipocytes (Sp1 binding was required for tamoxifen-mediated inhibition of promoter activity)

MAPPING

cloned

Y

linked

status

confirmed

Map	see SMCR (phenotype)

regionally located

within the Smith-Magenis critical region

RNA

TRANSCRIPTS	type	messenger

text	three transcripts of translation iniation site differing from each other in the 5' region with the point of divergence being 15nt upstream the translation initiation site (PMID: 9989271)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_148172 7 - 1028 NP_680477 - 236 major transcript in human liver 2005 15927961 transcript A constitutes nearly half of the total PEMT message in estrogen-treated hepatocytes NM_148173 7 - 905 NP_680478 - 199 - 2005 15927961 transcript C NM_007169 7 - 1008 NP_009100 - 199 - 2005 15927961 transcript B

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       predominantly Homo sapiens Reproductive female system ovary     highly   male system prostate     highly Visual eye       highly

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

PEMT/PEM2 methyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic

basic FUNCTION	converting phosphatidylethanolamine to phosphatidylcholine
	involved in hepatocyte proliferation
	may contribute to the etiology of schizophrenia (Liu 2007)
	catalyzing the major pathway for phosphatidylcholine biosynthesis in liver

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

regulated by estrogen in human hepatocytes

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to nonalcoholic fatty liver disease (NAFLD) to schizophrenia to breast cancer to choline deficiency syndrome (CDS)

Variant & Polymorphism SNP , other	polymorphism V175M associated with diminished activity and may confer susceptibility to NAFLD
	SNP increasing the risk of schizophrenia
	variant CC genotype associated with an increased risk of breast cancer
	polymorphism (rs12325817) most highly linked with the development of CDS (allele-specific ablation of estrogen receptor-DNA interaction in the PEMT locus prevents hormone-inducible PEMT expression, conferring risk of CDS in women)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

deletion of Pemt modestly reduced hepatic VLDL secretion in Ldlr(-/-) mice and altered the rate of VLDL clearance from plasma, attenuating atherosclerosis