BHMT Gene Summary [Human]
This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | BHMT |
| Official Name | betaine--homocysteine S-methyltransferase [Source:HGNC Symbol;Acc:HGNC:1047] |
| Ensembl ID | ENSG00000145692 |
| Bio databases IDs | |
| Aliases | betaine--homocysteine S-methyltransferase, betaine homocysteine methyltransferase |
| Synonyms | Betaine colon Homocysteine Methyltransferase, Betaine Homocysteine Methyltransferase, betaine--homocysteine S-methyltransferase, BHMT1, HEL-S-61p |
| 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 BHMT 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
- homocysteine S-methyltransferase
- binding protein
- zinc ion binding
- betaine-homocysteine S-methyltransferase
- enzyme
- betaine--homocysteine S-methyltransferase
- identical protein binding
Pathways
Biological processes and signaling networks where the BHMT gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- epithelial neoplasia
- cancer
- hepatocellular carcinoma
- liver cancer
- hepatitis B virus-related hepatocellular carcinoma
- diabetic nephropathy
- liver neoplasia
- abdominal cancer
role in cell
- quantity
- size
- oxidation in
- loss
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
- Extracellular Space
- Nucleus
- cytosol
- endoplasmic reticulum lumen
- exosomes
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BHMT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- 'de novo' L-methionine biosynthetic process
- L-methionine salvage
- S-adenosylmethionine metabolic process
- protein methylation
- betaine catabolic process
- regulation of homocysteine metabolic process
- betaine metabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- betaine-homocysteine S-methyltransferase activity