PEMT Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | PEMT |
| Official Name | phosphatidylethanolamine N-methyltransferase [Source:HGNC Symbol;Acc:HGNC:8830] |
| Ensembl ID | ENSG00000133027 |
| Bio databases IDs | |
| Aliases | phosphatidylethanolamine N-methyltransferase |
| Synonyms | AI255394, PEAMT, PEMPT, Pempt2, PEMT2, PHOMETH, phosphatidylethanolamine N-methyltransferase, PLMT, PNMT |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PEMT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphatidylethanolamine binding
- Phospholipid methyltransferase
- enzyme
- protein binding
- S-adenosylmethionine-dependent methyltransferase
- phosphatidylethanolamine N-methyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatic steatosis
- weight gain
- obesity
- insulin resistance
- nonalcoholic steatohepatitis
- fibrosis
- insomnia
- whole-body insulin resistance
- hypotrophy
- hepatomegaly
role in cell
- phosphorylation in
- proliferation
- oxidative stress response
- abnormal morphology
- accumulation
- lipotoxicity in
- accumulation in
- hydrolysis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum fraction
- intracellular membrane-bounded organelle
- mitochondrial envelope
- cellular membrane
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- endoplasmic reticulum membrane
- microsome
- mitochondrial membrane
- mitochondria-associated membranes
- sarcolemma
- brush border
- peroxisomal fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PEMT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- blastocyst hatching
- phosphatidylcholine biosynthetic process
- sphingomyelin biosynthetic process
- methylation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- mitochondrial membrane
- intracellular membrane-bounded organelle
- mitochondrion
- cytosol
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- phosphatidyl-N-dimethylethanolamine N-methyltransferase activity
- phosphatidylethanolamine N-methyltransferase activity
- phosphatidyl-N-methylethanolamine N-methyltransferase activity