Free for academic non-profit institutions. Other users need a Commercial license
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]
PNMT (Phenylethanolamine N-Methyltransferase) is a Protein Coding gene. Diseases associated with PNMT include Extra-Adrenal Pheochromocytoma and Von Hippel-Lindau Syndrome. Among its related pathways are Tyrosine metabolism and Biogenic Amine Synthesis. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and phenylethanolamine N-methyltransferase activity. An important paralog of this gene is NNMT.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004603 | phenylethanolamine N-methyltransferase activity | TAS | -- |
GO:0008168 | methyltransferase activity | IEA | -- |
GO:0008170 | N-methyltransferase activity | IBA | 21873635 |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Biogenic Amine Synthesis | ||
2 | Metabolism |
.40
|
|
3 | Tyrosine metabolism |
Tyrosine metabolism p.1 (dopamine)
.32
|
|
4 | Amine-derived hormones | ||
5 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032259 | methylation | IEA | -- |
GO:0042418 | epinephrine biosynthetic process | IEA | -- |
GO:0042423 | catecholamine biosynthetic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Epinephrine | Approved, Vet_approved | Pharma | 1364 | |||
Norepinephrine | Approved | Pharma | 952 | |||
Levmetamfetamine | Approved | Pharma | Enzyme, ligand | 0 | ||
s-adenosylhomocysteine | Experimental | Pharma | Target | 0 | ||
(1R)-2-amino-1-[3-(trifluoromethyl)phenyl]ethanol | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
|
485-80-3 | ||||
2-Hydroxyphenethylamine |
|
7568-93-6 |
|
|||
N-Methylphenylethanolamine |
|
68579-60-2 |
|
Compound | Action | Cas Number |
---|---|---|
LY 78335 | 39959-66-5 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PNMT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PNMT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PNMT 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pnmt 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pnmt 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PNMT 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PNMT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PNMT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PNMT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pnmt 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100332609 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | anmt-2 31 |
|
ManyToMany | |
anmt-1 31 |
|
ManyToMany | |||
anmt-3 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720757 | Benign: not provided | 39,668,598(+) | G/A | SYNONYMOUS_VARIANT | |
770446 | Benign: not provided | 39,670,063(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs11569781 | - | p.Asn9Ser | |||
rs34341496 | - | p.Ala175Thr | |||
rs34530498 | - | p.Arg112Cys |
Disorder | Aliases | PubMed IDs |
---|---|---|
extra-adrenal pheochromocytoma |
|
|
von hippel-lindau syndrome |
|
|
hepatocellular clear cell carcinoma |
|
|
malignant pheochromocytoma |
|
|
pheochromocytoma |
|