Description: Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA. RefSeq Summary (NM_001713): 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]. Transcript (Including UTRs) Position: hg19 chr5:78,407,604-78,428,113 Size: 20,510 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr5:78,407,709-78,426,939 Size: 19,231 Coding Exon Count: 8
ID:BHMT1_HUMAN DESCRIPTION: RecName: Full=Betaine--homocysteine S-methyltransferase 1; EC=2.1.1.5; FUNCTION: Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline. CATALYTIC ACTIVITY: Trimethylammonioacetate + L-homocysteine = dimethylglycine + L-methionine. COFACTOR: Binds 1 zinc ion per subunit. PATHWAY: Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 1/2. PATHWAY: Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (BhmT route): step 1/1. SUBUNIT: Homotetramer. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Found exclusively in liver and kidney. SIMILARITY: Contains 1 Hcy-binding domain.
neural tube defects Boyles, A. L. et al. 2006, Neural tube defects and folate pathway genes, Environ Health Perspect 2006 114(10) 1547-52.
[PubMed 17035141]
BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.
placental abruption Ananth, C. V. et al. 2007, Polymorphisms in methionine synthase reductase and betaine-homocysteine S-methyltransferase genes, Mol Genet Metab 2007.
[PubMed 17376725]
In this population, there was an association between the homozygous mutant form of BHMT (742G-->A) polymorphism and increased risk for placental abruption.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q93088
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0008168 methyltransferase activity GO:0008270 zinc ion binding GO:0016740 transferase activity GO:0046872 metal ion binding GO:0047150 betaine-homocysteine S-methyltransferase activity
Biological Process: GO:0000096 sulfur amino acid metabolic process GO:0006479 protein methylation GO:0006577 amino-acid betaine metabolic process GO:0006579 amino-acid betaine catabolic process GO:0009086 methionine biosynthetic process GO:0032259 methylation GO:0042426 choline catabolic process GO:0050666 regulation of homocysteine metabolic process GO:0071267 L-methionine salvage GO:0046500 S-adenosylmethionine metabolic process
US Server
