| Gene Information | |
|---|---|
| Gene Name | BHMT |
| Organism | Homo sapiens (Human) |
| Gene Length | 406 |
| Protein Names | Betaine--homocysteine S-methyltransferase 1 (EC 2.1.1.5) |
| Target Name | betaine--homocysteine s-methyltransferase 1 |
| Target Type | NA |
| Gene Age | 950 ( ENSG00000145692 ) |
| Evolutionary Stage | Euk+Bac |
| AlphaFoldDB | Q93088 |
| Gene Card | BHMT |
| Uniprot ID | Q93088 |
| Pfam | PF02574 |
| In ASD | no |
| Allosteric Prediction | yes (0.435782827) |
| Ortholog in Animals | Alpaca_ BHMT ( ortholog_one2one ) Alpaca_ BHMT2 ( ortholog_one2one ) Dog_ BHMT ( ortholog_one2one ) GuineaPig_ BHMT ( ortholog_one2one ) Macaque_ BHMT2 ( ortholog_one2one ) Mouse_ Bhmt ( ortholog_one2many ) Mouse_ Gm5096 ( ortholog_one2many ) Pig_ BHMT ( ortholog_one2one ) Rat_ Bhmt ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | MTR, MTHFR, UROD, BHMT2 |
| Tissue | kidney, liver |
| Tissue Specificity | Found exclusively in liver and kidney. {ECO:0000269|PubMed:9281325}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1LT7 (X-ray 2.15A ) 1LT8 (X-ray 2.05A ) 4M3P (X-ray 1.90A ) |
| DBSNP | rs59866108 rs3733890 |
| Subcellular location [CC] | Cytoplasm, cytosol {ECO:0000250|UniProtKB:O09171}. Nucleus {ECO:0000250|UniProtKB:O09171}. Note=Predominantly localized in the cytoplasm with a small fraction detected in the nucleus. Translocates into the nucleus upon oxidative stress. {ECO:0000250|UniProtKB:O09171}. |
| Mouse PG classification | NA |
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