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    Pemt phosphatidylethanolamine N-methyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 18618, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Pemtprovided by MGI
    Official Full Name
    phosphatidylethanolamine N-methyltransferaseprovided by MGI
    Primary source
    MGI:MGI:104535
    See related
    Ensembl:ENSMUSG00000000301 AllianceGenome:MGI:104535
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PLMT; PEAMT; PEMT2; Pempt; Pempt2
    Summary
    Enables S-adenosylmethionine-dependent methyltransferase activity. Involved in positive regulation of cold-induced thermogenesis. Acts upstream of or within blastocyst hatching and sphingomyelin biosynthetic process. Located in endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system; hepatic primordium; liver; lung; and secondary oocyte. Orthologous to human PEMT (phosphatidylethanolamine N-methyltransferase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver adult (RPKM 380.3), liver E18 (RPKM 210.1) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    See Pemt in Genome Data Viewer
    Location:
    11 B1.3; 11 37.81 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (59861440..59937394, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (59970614..60046561, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 9, opposite strand Neighboring gene mediator complex subunit 9 Neighboring gene RAS, dexamethasone-induced 1 Neighboring gene predicted gene, 53709 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:59846465-59846648 Neighboring gene predicted gene, 38498 Neighboring gene STARR-positive B cell enhancer ABC_E2355 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:59859961-59860160 Neighboring gene RIKEN cDNA 4930412M03 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:59927829-59927938 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:59928147-59928256 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:59928466-59928754 Neighboring gene STARR-positive B cell enhancer ABC_E1419 Neighboring gene retinoic acid induced 1 Neighboring gene predicted gene, 53710

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Role of Phosphatidylethanolamine N-Methyltransferase (PEMT) and Its Waist-Hip-Ratio-Associated Locus rs4646404 in Obesity-Related Metabolic Traits and Liver Disease.
      Title: The Role of Phosphatidylethanolamine N-Methyltransferase (PEMT) and Its Waist-Hip-Ratio-Associated Locus rs4646404 in Obesity-Related Metabolic Traits and Liver Disease.
    2. Phosphatidylethanolamine N-Methyltransferase Knockout Modulates Metabolic Changes in Aging Mice.
      Title: Phosphatidylethanolamine N-Methyltransferase Knockout Modulates Metabolic Changes in Aging Mice.
    3. Methyl-Sensing Nuclear Receptor Liver Receptor Homolog-1 Regulates Mitochondrial Function in Mouse Hepatocytes.
      Title: Methyl-Sensing Nuclear Receptor Liver Receptor Homolog-1 Regulates Mitochondrial Function in Mouse Hepatocytes.
    4. Alternative splicing of UCP1 by non-cell-autonomous action of PEMT.
      Title: Alternative splicing of UCP1 by non-cell-autonomous action of PEMT.
    5. Implication of phosphatidylethanolamine N-methyltransferase in adipocyte differentiation.
      Title: Implication of phosphatidylethanolamine N-methyltransferase in adipocyte differentiation.
    6. fenofibrate partially reversed hepatic steatosis and fibrosis in Pemt(-/-) mice when treatment was initiated after nonalcoholic fatty liver disease (NAFLD) had already been established. Increasing hepatic fatty acid oxidation can compensate for the lower VLDL-triacylglycerol secretion rate and prevent/reverse fatty liver disease in mice lacking PEMT.
      Title: Fenofibrate, but not ezetimibe, prevents fatty liver disease in mice lacking phosphatidylethanolamine N-methyltransferase.
    7. Results show that hepatic PEMT protein levels and activity are post-translationally repressed in homocystinuria and correlates with decreased phosphatidylcholine.
      Title: Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria.
    8. Activation of PPARgamma using pioglitazone in high fat diet-fed Pemt(-/-) mice improved liver function, while these mice were still protected against diet-induced obesity and insulin resistance.
      Title: Pioglitazone attenuates hepatic inflammation and fibrosis in phosphatidylethanolamine N-methyltransferase-deficient mice.
    9. Results showed that Pemt deficiency and high-fat diet in mouse model demonstrated the phenotypes resemble to the clinical features of the patients with lean non-alcoholic steatohepatitis.
      Title: Insufficiency of phosphatidylethanolamine N-methyltransferase is risk for lean non-alcoholic steatohepatitis.
    10. propose that cold-induced hypothermia in HF-fed Pemt(-/-) mice is linked to plasma hypoglycemia due to compromised hepatic glucose production.
      Title: Insufficient glucose supply is linked to hypothermia upon cold exposure in high-fat diet-fed mice lacking PEMT.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (6) 
    • Gene trapped (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables S-adenosylmethionine-dependent methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables S-adenosylmethionine-dependent methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidyl-N-methylethanolamine N-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylethanolamine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylethanolamine N-methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylethanolamine N-methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables phosphatidylethanolamine binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in S-adenosylhomocysteine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in S-adenosylmethionine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within blastocyst hatching IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glycerophospholipid metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phosphatidylcholine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylcholine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylcholine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within phosphatidylcholine biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of cold-induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of lipoprotein metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to vitamin ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to xenobiotic stimulus ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within sphingomyelin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in brush border membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial envelope TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylethanolamine N-methyltransferase
    Names
    phospholipid methyltransferase
    NP_001276940.1
    NP_001276941.1
    NP_001276942.1
    NP_001276943.1
    NP_032845.2
    XP_006532541.1

    NCBI Reference Sequences (RefSeq)

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    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_001290011.1 → NP_001276940.1  phosphatidylethanolamine N-methyltransferase isoform a

      See identical proteins and their annotated locations for NP_001276940.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AA245746, AK133744, BY251884
      Consensus CDS
      CCDS78957.1
      UniProtKB/Swiss-Prot
      Q61907
      Related
      ENSMUSP00000099754.3, ENSMUST00000102693.9
      Conserved Domains (1) summary
      pfam04191
      Location:126 → 228
      PEMT; Phospholipid methyltransferase

    2. NM_001290012.1 → NP_001276941.1  phosphatidylethanolamine N-methyltransferase isoform b

      See identical proteins and their annotated locations for NP_001276941.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in its 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform b which has a shorter N-terminus compared to isoform a. Variants 2, 3 and 4 encode the same isoform (b).
      Source sequence(s)
      AA245746, AK133744, AL645526, BY251884, CJ048474
      Consensus CDS
      CCDS24782.1
      UniProtKB/Swiss-Prot
      Q3UZN8, Q61907, Q7TNW6, Q8R0I1
      Related
      ENSMUSP00000000310.8, ENSMUST00000000310.14
      Conserved Domains (1) summary
      pfam04191
      Location:89 → 191
      PEMT; Phospholipid methyltransferase

    3. NM_001290013.1 → NP_001276942.1  phosphatidylethanolamine N-methyltransferase isoform b

      See identical proteins and their annotated locations for NP_001276942.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform b which has a shorter N-terminus compared to isoform a. Variants 2, 3 and 4 encode the same isoform (b).
      Source sequence(s)
      AA245746, AK133744, BG084478, CN708035
      Consensus CDS
      CCDS24782.1
      UniProtKB/Swiss-Prot
      Q3UZN8, Q61907, Q7TNW6, Q8R0I1
      Conserved Domains (1) summary
      pfam04191
      Location:89 → 191
      PEMT; Phospholipid methyltransferase

    4. NM_001290014.1 → NP_001276943.1  phosphatidylethanolamine N-methyltransferase isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. It also lacks two in-frame exons compared to variant 1. It encodes isoform c which is shorter than isoform a.
      Source sequence(s)
      AA245746, AK133744, BG084478, CN708035
      UniProtKB/TrEMBL
      B1ARC9
      Related
      ENSMUSP00000116314.2, ENSMUST00000147422.8
      Conserved Domains (1) summary
      cl21511
      Location:70 → 105
      PEMT; Phospholipid methyltransferase

    5. NM_008819.3 → NP_032845.2  phosphatidylethanolamine N-methyltransferase isoform b

      See identical proteins and their annotated locations for NP_032845.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform b which has a shorter N-terminus compared to isoform a. Variants 2, 3 and 4 encode the same isoform (b).
      Source sequence(s)
      AA245746, AK133744, AL645526, AY334571
      Consensus CDS
      CCDS24782.1
      UniProtKB/Swiss-Prot
      Q3UZN8, Q61907, Q7TNW6, Q8R0I1
      Related
      ENSMUSP00000099753.4, ENSMUST00000102692.10
      Conserved Domains (1) summary
      pfam04191
      Location:89 → 191
      PEMT; Phospholipid methyltransferase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      59861440..59937394 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006532478.5 → XP_006532541.1  phosphatidylethanolamine N-methyltransferase isoform X1

      Conserved Domains (1) summary
      pfam04191
      Location:115 → 217
      PEMT; Phospholipid methyltransferase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q61907.4 GenPept UniProtKB/Swiss-Prot:Q61907

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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