PEMT (Phosphatidylethanolamine N-methyltransferase)
Gene description
PEMT (also known as MUC1) encodes a protein called mucin 1. This protein helps make up mucus, which lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs and tissues. Mucin 1 is also involved in cell signaling and kidney development (R).
Mutations in this gene can cause kidney disease (R).
Gene function
Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidyl monomethylethanolamine (PMME), PMME to phosphatidyl dimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC).
Disease association
Disease | |
Liver Neoplasms, Experimental | |
Fatty Liver, Alcoholic |
Advanced information
The following transcription factors affect gene expression (R):
- p53
Enzyme Regulation:
The first methylation is rate-limiting.
Molecular Function:
- Phosphatidylethanolamine Binding
- Phosphatidylethanolamine N-Methyltransferase Activity
- Phosphatidyl-N-Dimethylethanolamine N-Methyltransferase Activity
- Phosphatidyl-N-Methylethanolamine N-Methyltransferase Activity
Biological Processes:
- Cell Proliferation
- Lipid Metabolic Process
- Negative Regulation Of Cell Proliferation
- Phosphatidylcholine Biosynthetic Process
- Positive Regulation Of Lipoprotein Metabolic Process
- Positive Regulation Of Protein Targeting To Mitochondria
- Response To Amino Acid
- Response To Drug
- Response To Ethanol
- Response To Vitamin
- S-Adenosylhomocysteine Metabolic Process
- S-Adenosylmethionine Metabolic Process
- Glycerophospholipid Metabolic Process
- Phospholipid Biosynthetic Process
TIPS: It’s better to have this gene increased most of the time.