TMT1A
Thiol Methyltransferase 1A
Gene Information Card
| Symbol | TMT1A |
|---|---|
| Full Name | Thiol Methyltransferase 1A |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 123775 ncbi.nlm.nih.gov/gene/123775 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8WUZ0 |
| OMIM ID | 619246 |
| HGNC ID | 28367 |
| Aliases | METTL7A, methyltransferase like 7A |
Description
TMT1A (thiol methyltransferase 1A) encodes a protein that catalyzes the S-methylation of thiol-containing substrates, playing a role in sulfur metabolism and detoxification pathways. The enzyme uses S-adenosyl-L-methionine as a methyl donor and is involved in the metabolism of xenobiotics and endogenous thiols.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.1 | Low |
| Lung | 4.2 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 5.3 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • S-adenosylmethionine-dependent methyltransferase activity | • thiol S-methyltransferase activity |
| • methylation | • sulfur compound metabolic process |
Pathways
• Sulfur metabolism (Reactome: R-HSA-1614558)
• Biological oxidations (Reactome: R-HSA-211859)
Protein Summary
TMT1A is a 285-amino acid protein belonging to the methyltransferase superfamily. It localizes to the cytoplasm and endoplasmic reticulum, where it methylates thiol groups of small molecules, contributing to detoxification and metabolic regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMT1A Knockout HEK293 Cell Line | EDJ-KQ15864 | Human | 25840 | Details Get a Quote |
| TMT1A Knockout HeLa Cell Line | EDJ-KQ49073 | Human | 25840 | Details Get a Quote |
| TMT1A Knockout A-549 Cell Line | EDJ-KQ64321 | Human | 25840 | Details Get a Quote |
| TMT1A Knockout HCT 116 Cell Line | EDJ-KQ72774 | Human | 25840 | Details Get a Quote |
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