LOCUS       NM_148172               1021 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens phosphatidylethanolamine N-methyltransferase (PEMT),
            transcript variant 1, mRNA.
ACCESSION   NM_148172
VERSION     NM_148172.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1021)
  AUTHORS   Su,G.M., Guo,Q.W., Shen,Y.L., Cai,J.J., Chen,X., Lin,J. and
            Fang,D.Z.
  TITLE     Association between PEMT rs7946 and blood pressure levels in
            Chinese adolescents
  JOURNAL   Blood Press Monit 29 (4), 180-187 (2024)
   PUBMED   38502043
  REMARK    GeneRIF: Association between PEMT rs7946 and blood pressure levels
            in Chinese adolescents.
REFERENCE   2  (bases 1 to 1021)
  AUTHORS   Sun,C., Holstein,D.J.F., Garcia-Cubero,N., Moulla,Y., Stroh,C.,
            Dietrich,A., Schon,M.R., Gartner,D., Lohmann,T., Dressler,M.,
            Stumvoll,M., Bluher,M., Kovacs,P. and Guiu-Jurado,E.
  TITLE     The Role of Phosphatidylethanolamine N-Methyltransferase (PEMT) and
            Its Waist-Hip-Ratio-Associated Locus rs4646404 in Obesity-Related
            Metabolic Traits and Liver Disease
  JOURNAL   Int J Mol Sci 24 (23), 16850 (2023)
   PUBMED   38069170
  REMARK    GeneRIF: The Role of Phosphatidylethanolamine N-Methyltransferase
            (PEMT) and Its Waist-Hip-Ratio-Associated Locus rs4646404 in
            Obesity-Related Metabolic Traits and Liver Disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1021)
  AUTHORS   Suazo,J., Salamanca,C., Gonzalez-Hormazabal,P., Caceres-Rojas,G.,
            Pantoja,R., Leiva,N. and Pardo,R.
  TITLE     PEMT variants are associated with nonsyndromic cleft lip with or
            without cleft palate in Chile
  JOURNAL   Epigenomics 14 (17), 987-993 (2022)
   PUBMED   36154674
  REMARK    GeneRIF: PEMT variants are associated with nonsyndromic cleft lip
            with or without cleft palate in Chile.
REFERENCE   4  (bases 1 to 1021)
  AUTHORS   Piras,I.S., Raju,A., Don,J., Schork,N.J., Gerhard,G.S. and
            DiStefano,J.K.
  TITLE     Hepatic PEMT Expression Decreases with Increasing NAFLD Severity
  JOURNAL   Int J Mol Sci 23 (16), 9296 (2022)
   PUBMED   36012560
  REMARK    GeneRIF: Hepatic PEMT Expression Decreases with Increasing NAFLD
            Severity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1021)
  AUTHORS   Zhu,J., Liu,Y.H., He,X.L., Kohlmeier,M., Zhou,L.L., Shen,L.W.,
            Yi,X.X., Tang,Q.Y., Cai,W. and Wang,B.
  TITLE     Dietary Choline Intake during Pregnancy and PEMT rs7946
            Polymorphism on Risk of Preterm Birth: A Case-Control Study
  JOURNAL   Ann Nutr Metab 76 (6), 431-440 (2020)
   PUBMED   33503637
  REMARK    GeneRIF: Dietary Choline Intake during Pregnancy and PEMT rs7946
            Polymorphism on Risk of Preterm Birth: A Case-Control Study.
REFERENCE   6  (bases 1 to 1021)
  AUTHORS   Taira,Y., Panagia,V., Shah,K.R., Beamish,R.E. and Dhalla,N.S.
  TITLE     Stimulation of phospholipid N-methylation by isoproterenol in rat
            hearts
  JOURNAL   Circ Res 66 (1), 28-36 (1990)
   PUBMED   2295142
REFERENCE   7  (bases 1 to 1021)
  AUTHORS   Reitz,R.C., Mead,D.J., Bjur,R.A., Greenhouse,A.H. and Welch,W.H.
            Jr.
  TITLE     Phosphatidylethanolamine N-methyltransferase in human red blood
            cell membrane preparations. Kinetic mechanism
  JOURNAL   J Biol Chem 264 (14), 8097-8106 (1989)
   PUBMED   2722775
REFERENCE   8  (bases 1 to 1021)
  AUTHORS   Yang,E.K., Blusztajn,J.K., Pomfret,E.A. and Zeisel,S.H.
  TITLE     Rat and human mammary tissue can synthesize choline moiety via the
            methylation of phosphatidylethanolamine
  JOURNAL   Biochem J 256 (3), 821-828 (1988)
   PUBMED   3223955
REFERENCE   9  (bases 1 to 1021)
  AUTHORS   Davis,P.B.
  TITLE     Lymphocyte and granulocyte phosphatidylethanolamine
            N-methyltransferase: properties and activity in cystic fibrosis
  JOURNAL   Pediatr Res 20 (12), 1290-1296 (1986)
   PUBMED   3025802
REFERENCE   10 (bases 1 to 1021)
  AUTHORS   Blusztajn,J.K., Zeisel,S.H. and Wurtman,R.J.
  TITLE     Synthesis of lecithin (phosphatidylcholine) from
            phosphatidylethanolamine in bovine brain
  JOURNAL   Brain Res 179 (2), 319-327 (1979)
   PUBMED   509240
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020558.4, AK302251.1,
            AF113126.1 and BC050593.1.
            
            On Nov 23, 2018 this sequence version replaced NM_148172.2.
            
            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 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].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1). Isoform 1 localizes to the endoplasmic reticulum.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.125927.1,
                                           SRR5189655.107681.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000255389.10/
                                                  ENSP00000255389.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AC020558.4         97606-97610         c
            6-36                AK302251.1         6-36
            37-833              AF113126.1         1-797
            834-1021            BC050593.1         806-993
FEATURES             Location/Qualifiers
     source          1..1021
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..1021
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /note="phosphatidylethanolamine N-methyltransferase"
                     /db_xref="GeneID:10400"
                     /db_xref="HGNC:HGNC:8830"
                     /db_xref="MIM:602391"
     exon            1..178
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..793
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /EC_number="2.1.1.17"
                     /EC_number="2.1.1.71"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phospholipid methyltransferase"
                     /codon_start=1
                     /product="phosphatidylethanolamine N-methyltransferase
                     isoform 1"
                     /protein_id="NP_680477.1"
                     /db_xref="CCDS:CCDS11186.1"
                     /db_xref="GeneID:10400"
                     /db_xref="HGNC:HGNC:8830"
                     /db_xref="MIM:602391"
                     /translation="MKRSGNPGAEVTNSSVAGPDCCGGLGNIDFRQADFCVMTRLLGY
                     VDPLDPSFVAAVITITFNPLYWNVVARWEHKTRKLSRAFGSPYLACYSLSVTILLLNF
                     LRSHCFTQAMLSQPRMESLDTPAAYSLGLALLGLGVVLVLSSFFALGFAGTFLGDYFG
                     ILKEARVTVFPFNILDNPMYWGSTANYLGWAIMHASPTGLLLTVLVALTYIVALLYEE
                     PFTAEIYRQKASGSHKRS"
     exon            179..286
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /inference="alignment:Splign:2.1.0"
     exon            287..402
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /inference="alignment:Splign:2.1.0"
     exon            403..548
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /inference="alignment:Splign:2.1.0"
     exon            549..660
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /inference="alignment:Splign:2.1.0"
     exon            661..735
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /inference="alignment:Splign:2.1.0"
     exon            736..1021
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1000..1005
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /note="hexamer: AATAAA"
     polyA_site      1021
                     /gene="PEMT"
                     /gene_synonym="PEAMT; PEMPT; PEMT2; PLMT; PNMT"
                     /note="major polyA site"
ORIGIN      
        1 acttacccgg ctctataggt ccggttccgg gggcgcgtgg ctgcagcggg gcccgcgtgg
       61 tgcctcctga ggcggccccc ggatgaagag atctgggaac ccgggagccg aggtaacgaa
      121 cagctcggtg gcagggcctg actgctgcgg aggcctcggc aatattgatt ttagacaggc
      181 agacttctgc gttatgaccc ggctgctggg ctacgtggac cccctggatc ccagctttgt
      241 ggctgccgtc atcaccatca ccttcaatcc gctctactgg aatgtggttg cacgatggga
      301 acacaagacc cgcaagctga gcagggcctt cggatccccc tacctggcct gctactctct
      361 aagcgtcacc atcctgctcc tgaacttcct gcgctcgcac tgcttcacgc aggccatgct
      421 gagccagccc aggatggaga gcctggacac ccccgcggcc tacagcctgg gcctcgcgct
      481 cctgggactg ggcgtcgtgc tcgtgctctc cagcttcttt gcactggggt tcgctggaac
      541 tttcctaggt gattacttcg ggatcctcaa ggaggcgaga gtgaccgtgt tccccttcaa
      601 catcctggac aaccccatgt actggggaag cacagccaac tacctgggct gggccatcat
      661 gcacgccagc cccacgggcc tgctcctgac ggtgctggtg gccctcacct acatagtggc
      721 tctcctatac gaagagccct tcaccgctga gatctaccgg cagaaagcct ccgggtccca
      781 caagaggagc tgattgagct gcaacagctt tgctgaaggc ctggccagcc tcctggcctg
      841 ccccaagtgg caggccctgc gcagggcgag aatggtgcct gctgctcagg gctcgccccc
      901 ggcgtgggct gccccagtgc cttggaacct gctgccttgg ggaccctgga cgtgccgaca
      961 tatggccatt gagctccaac ccacacattc ccattcacca ataaaggcac cctgacccca
     1021 a
//
