PNMT Gene Summary [Human]
The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
Details
| Type | Protein Coding |
| Official Symbol | PNMT |
| Official Name | phenylethanolamine N-methyltransferase [Source:HGNC Symbol;Acc:HGNC:9160] |
| Ensembl ID | ENSG00000141744 |
| Bio databases IDs | |
| Aliases | phenylethanolamine N-methyltransferase |
| Synonyms | PENT, phenylethanolamine-N-methyltransferase, PNMTase |
| 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 PNMT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- methyltransferase
- transferase
- phenylethanolamine N-methyltransferase
- enzyme
- protein binding
- AdoMet_MTases
- S-adenosylmethionine-dependent methyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- asthma
- cardiovascular disorder
- pancreatic epithelial cancer
- weight loss
- heart failure
- adrenal medullary hyperplasia
- idiopathic pulmonary fibrosis
- pancreatic carcinoma
role in cell
- size
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
- axon component
- cytosol
- cytoplasmic vesicles
- perikaryon
- axons
- dendrites
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PNMT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epinephrine biosynthetic process
- catecholamine biosynthetic process
- methylation
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- phenylethanolamine N-methyltransferase activity
- protein binding