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

Summary

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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

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.
Phosphatidylethanolamine N-Methyltransferase Knockout Modulates Metabolic Changes in Aging Mice.
Title: Phosphatidylethanolamine N-Methyltransferase Knockout Modulates Metabolic Changes in Aging Mice.
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.
Alternative splicing of UCP1 by non-cell-autonomous action of PEMT.
Title: Alternative splicing of UCP1 by non-cell-autonomous action of PEMT.
Implication of phosphatidylethanolamine N-methyltransferase in adipocyte differentiation.
Title: Implication of phosphatidylethanolamine N-methyltransferase in adipocyte differentiation.
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.
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.
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.
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.
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

General gene information

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Markers

Pemt (e-PCR), detects polymorphism
- UniSTS:470564

Pemt (e-PCR), detects polymorphism
- UniSTS:546930

AI255394 (e-PCR)
- UniSTS:179879

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 more info	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

EC 2.1.1.17

EC 2.1.1.71

NP_001276941.1

EC 2.1.1.17

EC 2.1.1.71

NP_001276942.1

EC 2.1.1.17

EC 2.1.1.71

NP_001276943.1

EC 2.1.1.17

EC 2.1.1.71

NP_032845.2

EC 2.1.1.17

EC 2.1.1.71

XP_006532541.1

EC 2.1.1.17

EC 2.1.1.71

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)

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
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
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
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
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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

59861440..59937394 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam04191
Location:115 → 217

PEMT; Phospholipid methyltransferase