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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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Related articles in PubMed

  1. Insights into the requirement of phosphatidylcholine synthesis for liver function in mice. Noga AA, et al. J Lipid Res, 2003 Oct. PMID 12837848
  2. Impaired de novo choline synthesis explains why phosphatidylethanolamine N-methyltransferase-deficient mice are protected from diet-induced obesity. Jacobs RL, et al. J Biol Chem, 2010 Jul 16. PMID 20452975, Free PMC Article
  3. Sequential synthesis and methylation of phosphatidylethanolamine promote lipid droplet biosynthesis and stability in tissue culture and in vivo. Hörl G, et al. J Biol Chem, 2011 May 13. PMID 21454708, Free PMC Article
  4. Gene expression profiling in phosphatidylethanolamine N-methyltransferase knockout mice. Zhu X, et al. Brain Res Mol Brain Res, 2005 Apr 4. PMID 15836921
  5. Physiological roles of phosphatidylethanolamine N-methyltransferase. Vance DE. Biochim Biophys Acta, 2013 Mar. PMID 22877991

See all (77) citations in PubMed

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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