TOMT (Transmembrane O-Methyltransferase)
Gene encoding a transmembrane methyltransferase involved in melatonin biosynthesis and xenobiotic metabolism
Gene Information Card
| Symbol | TOMT |
|---|---|
| Full Name | transmembrane O-methyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 100526760 ncbi.nlm.nih.gov/gene/100526760 |
| Ensembl ID | ENSG00000205758 |
| UniProt ID | Q8WU17 |
| OMIM ID | 614096 |
| HGNC ID | 33739 |
| Aliases | MGC119984, MGC119985, TOMT1 |
Description
TOMT encodes a transmembrane O-methyltransferase that catalyzes the methylation of various substrates, including N-acetylserotonin to form melatonin. The enzyme is localized to the endoplasmic reticulum and plays a role in melatonin biosynthesis and detoxification of xenobiotics. Expression is highest in the pineal gland and retina.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melatonin deficiency | Reduced conversion of N-acetylserotonin to melatonin | OMIM #614096 |
| Schizophrenia | Altered melatonin levels and circadian rhythm disruption | ClinVar |
| Breast cancer | Dysregulated methylation of catechol estrogens | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pineal gland | 12.5 | High |
| Retina | 8.3 | Medium |
| Brain (cerebellum) | 4.1 | Low |
| Liver | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 6.8 | Moderate expression |
| MCF7 (breast cancer) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.374C>T (p.Thr125Met) | Missense | 0.02% | Reduced enzyme activity |
| c.512G>A (p.Arg171His) | Missense | 0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1?) is predicted to abolish translation initiation, leading to complete loss of enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations reported in TOMT.
Dominant Negative (DN)
No dominant-negative mutations reported in TOMT.
View complete mutation data：
Gene Ontology (GO)
| • O-methyltransferase activity (GO:0008171) | • melatonin biosynthetic process (GO:0030187) |
| • endoplasmic reticulum membrane (GO:0005789) | • methylation (GO:0032259) |
Pathways
• Melatonin biosynthesis (Reactome: R-HSA-209776)
• Catecholamine metabolism (KEGG: map00350)
Protein Summary
TOMT is a 285-amino acid transmembrane protein with a single transmembrane domain. It belongs to the class I O-methyltransferase family and uses S-adenosyl-L-methionine as a methyl donor. The enzyme is essential for the final step of melatonin synthesis and also methylates catechol estrogens and other phenolic compounds.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOMT Knockout HEK293 Cell Line | EDJ-KQ15883 | Human | 120356740 | Details Get a Quote |
| TOMT Knockout A-549 Cell Line | EDJ-KQ49103 | Human | 120356740 | Details Get a Quote |
| TOMT Knockout HCT 116 Cell Line | EDJ-KQ49104 | Human | 120356740 | Details Get a Quote |
| TOMT Knockout HeLa Cell Line | EDJ-KQ49105 | Human | 120356740 | Details Get a Quote |
| LRTOMT Knockout HEK293 Cell Line | EDJ-KQ52151 | Human | 220074 | Details Get a Quote |
| LRTOMT Knockout HeLa Cell Line | EDJ-KQ59133 | Human | 220074 | Details Get a Quote |
| LRTOMT Knockout A-549 Cell Line | EDJ-KQ67607 | Human | 220074 | Details Get a Quote |
| LRTOMT Knockout HCT 116 Cell Line | EDJ-KQ75995 | Human | 220074 | Details Get a Quote |
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