COMTD1
Catechol-O-Methyltransferase Domain Containing 1
Gene Information Card
| Symbol | COMTD1 |
|---|---|
| Full Name | Catechol-O-Methyltransferase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.3 |
| NCBI Gene ID | 118471 ncbi.nlm.nih.gov/gene/118471 |
| Ensembl ID | ENSG00000165802 |
| UniProt ID | Q8N4Q0 |
| OMIM ID | 614158 |
| HGNC ID | 25177 |
| Aliases | FLJ22662, MGC131895 |
Description
COMTD1 (Catechol-O-Methyltransferase Domain Containing 1) is a protein-coding gene located on chromosome 10q22.3. The encoded protein contains a catechol-O-methyltransferase (COMT) domain, suggesting a role in methylation of catechol substrates. However, its specific biochemical function and physiological significance remain under investigation. COMTD1 is broadly expressed in various tissues, with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 15.2 | Medium |
| Kidney | 8.1 | Low |
| Liver | 6.3 | Low |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No known loss-of-function mutations reported.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • methyltransferase activity | • catechol O-methyltransferase activity |
| • cytoplasm | • nucleus |
Pathways
• Methylation of catechol substrates (inferred)
Protein Summary
COMTD1 is a 274-amino acid protein containing a conserved catechol-O-methyltransferase domain. It is predicted to catalyze the transfer of a methyl group from S-adenosylmethionine to catechol substrates. The protein is localized in the cytoplasm and nucleus, and its expression is highest in brain and testis. Its precise biological role and disease relevance remain to be fully elucidated.
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