Version 5.4
Homo sapiens Gene: BHMT
Summary
InnateDB Gene IDBG-30922.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BHMT
Gene Name betaine--homocysteine S-methyltransferase
Synonyms BHMT1; HEL-S-61p
Species Homo sapiens
Ensembl Gene ENSG00000145692
Encoded Proteins
IDBP-30926
betaine--homocysteine S-methyltransferase
IDBP-484871
betaine--homocysteine S-methyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:79111779-79132290
Strand Forward strand
Band q14.1
Transcripts
ENST00000274353 ENSP00000274353
ENST00000524080 ENSP00000428240
ENST00000520335
ENST00000520703
ENST00000523508
ENST00000521279
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 8 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008168 methyltransferase activity
GO:0008270 zinc ion binding
GO:0008898 S-adenosylmethionine-homocysteine S-methyltransferase activity
GO:0032403 protein complex binding
GO:0047150 betaine-homocysteine S-methyltransferase activity
GO:0061627 S-methylmethionine-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:0010243 response to organonitrogen compound
GO:0032259 methylation
GO:0033477 S-methylmethionine metabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0050666 regulation of homocysteine metabolic process
GO:0071267 L-methionine salvage
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_115639
Sulfur amino acid metabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00260
Glycine, serine and threonine metabolism pathway
hsa00270
Cysteine and methionine metabolism pathway
INOH
INOH website
Methionine Cysteine metabolism pathway
INOH website
Glycine Serine metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL E5RJH0
UniProt Splice Variant
Entrez Gene 635
UniGene Hs.713723 Hs.80756
RefSeq NM_001713
HUGO HGNC:1047
OMIM 602888
CCDS CCDS4046
HPRD 04200
IMGT
EMBL AC008502
GenPept
RNA Seq Atlas 635

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca