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    PEMT phosphatidylethanolamine N-methyltransferase [ Homo sapiens (human) ]

    Gene ID: 10400, updated on 15-Jun-2019

    Summary

    Official Symbol
    PEMTprovided by HGNC
    Official Full Name
    phosphatidylethanolamine N-methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:8830
    See related
    Ensembl:ENSG00000133027 MIM:602391
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PLMT; PNMT; PEAMT; PEMPT; PEMT2
    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]
    Expression
    Broad expression in liver (RPKM 29.5), fat (RPKM 10.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See PEMT in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (17505561..17591987, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17408877..17495434, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 9 Neighboring gene ras related dexamethasone induced 1 Neighboring gene VISTA enhancer hs1917 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 43 Neighboring gene RNA, U6 small nuclear 468, pseudogene Neighboring gene Smith-Magenis syndrome chromosome region, candidate 2 Neighboring gene retinoic acid induced 1 Neighboring gene RAI1 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    NHGRI GWA Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC2483

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    phosphatidyl-N-dimethylethanolamine N-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidyl-N-methylethanolamine N-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylethanolamine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylethanolamine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    phosphatidylethanolamine binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    S-adenosylhomocysteine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    S-adenosylmethionine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    blastocyst hatching IEA
    Inferred from Electronic Annotation
    more info
     
    methylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylcholine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylcholine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylcholine biosynthetic process TAS
    Traceable Author Statement
    more info
     
    positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of lipoprotein metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to amino acid IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin IEA
    Inferred from Electronic Annotation
    more info
     
    sphingomyelin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    brush border membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    phosphatidylethanolamine N-methyltransferase
    Names
    phospholipid methyltransferase
    NP_001254480.1
    NP_001254481.1
    NP_009100.2
    NP_680477.1
    NP_680478.1
    XP_006721481.2
    XP_016879505.1
    XP_024306300.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001267551.2NP_001254480.1  phosphatidylethanolamine N-methyltransferase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 4) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC020558, AK302251, BC050593, BM011377
      UniProtKB/Swiss-Prot
      Q9UBM1
      Related
      ENSP00000391288.2, ENST00000435340.6
      Conserved Domains (1) summary
      pfam04191
      Location:123206
      PEMT; Phospholipid methyltransferase
    2. NM_001267552.2NP_001254481.1  phosphatidylethanolamine N-methyltransferase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an additional exon in the 3' coding region, compared to variant 1, which results in a frameshift and a protein (isoform 3) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC020558, AK302251, BC050593
      Consensus CDS
      CCDS58520.1
      UniProtKB/Swiss-Prot
      Q9UBM1
      Related
      ENSP00000379127.2, ENST00000395781.6
      Conserved Domains (1) summary
      pfam04191
      Location:145193
      PEMT; Phospholipid methyltransferase
    3. NM_007169.3NP_009100.2  phosphatidylethanolamine N-methyltransferase isoform 2

      See identical proteins and their annotated locations for NP_009100.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream start codon compared to variant 1. Variants 2 and 3 encode the same isoform (2). Isoform 2 localizes to mitochondria-associated membranes.
      Source sequence(s)
      AC020558
      Consensus CDS
      CCDS11187.1
      UniProtKB/Swiss-Prot
      Q9UBM1
      Related
      ENSP00000379129.1, ENST00000395783.5
      Conserved Domains (1) summary
      pfam04191
      Location:108191
      PEMT; Phospholipid methyltransferase
    4. NM_148172.3NP_680477.1  phosphatidylethanolamine N-methyltransferase isoform 1

      See identical proteins and their annotated locations for NP_680477.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Isoform 1 localizes to the endoplasmic reticulum.
      Source sequence(s)
      AC020558, AF113126, AK302251, BC050593
      Consensus CDS
      CCDS11186.1
      UniProtKB/Swiss-Prot
      Q9UBM1
      Related
      ENSP00000255389.5, ENST00000255389.10
      Conserved Domains (1) summary
      pfam04191
      Location:145228
      PEMT; Phospholipid methyltransferase
    5. NM_148173.2NP_680478.1  phosphatidylethanolamine N-methyltransferase isoform 2

      See identical proteins and their annotated locations for NP_680478.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream start codon compared to variant 1. Variants 2 and 3 encode the same isoform (2). Isoform 2 localizes to mitochondria-associated membranes.
      Source sequence(s)
      AC020558
      Consensus CDS
      CCDS11187.1
      UniProtKB/Swiss-Prot
      Q9UBM1
      Related
      ENSP00000379128.1, ENST00000395782.5
      Conserved Domains (1) summary
      pfam04191
      Location:108191
      PEMT; Phospholipid methyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      17505561..17591987 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721418.4XP_006721481.2  phosphatidylethanolamine N-methyltransferase isoform X1

      Conserved Domains (1) summary
      pfam04191
      Location:124207
      PEMT; Phospholipid methyltransferase
    2. XM_017024016.1XP_016879505.1  phosphatidylethanolamine N-methyltransferase isoform X3

    3. XM_024450532.1XP_024306300.1  phosphatidylethanolamine N-methyltransferase isoform X2

      Conserved Domains (1) summary
      pfam04191
      Location:108191
      PEMT; Phospholipid methyltransferase
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