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FLASH GENE
Symbol PEMT contributors: npt/mct/pgu - updated : 23-09-2010
HGNC name phosphatidylethanolamine N-methyltransferase
HGNC id 8830
Location 17p11.2      Physical location : 17.408.878 - 17.494.994
Synonym symbol(s) PEMT2, MGC2483, PEAMT, PEMPT, PEMT2, PNMT
EC.number 2.1.1.17
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)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1028 - 236 major transcript in human liver 2005 15927961
  • transcript A
  • constitutes nearly half of the total PEMT message in estrogen-treated hepatocytes
    • 7 - 905 - 199 - 2005 15927961
    transcript C
    7 - 1008 - 199 - 2005 15927961
    transcript B
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   predominantly Homo sapiens
    Reproductivefemale systemovary  highly
     male systemprostate  highly
    Visualeye   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte 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