Tag Content
SG ID
SG00021576 
UniProt Accession
Theoretical PI
8.01  
Molecular Weight
45021 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
Bhmt 
Gene Synonyms/Alias
 
Protein Name
Betaine--homocysteine S-methyltransferase 1 
Protein Synonyms/Alias
EC=2.1.1.5 
Organism
Mus musculus (Mouse) 
NCBI Taxonomy ID
10090 
Chromosome Location
chr:13;94386846-94407916;-1
View in Ensembl genome browser  
Function in Stage
Uncertain 
Function in Cell Type
Uncertain 
Probability (GAS) of Function in Spermatogenesis
0.169062819 
The probability was calculated by GAS algorithm, ranging from 0 to 1. The closer it is to 1, the more possibly it functions in spermatogenesis.
Description
Temporarily unavailable 
Abstract of related literatures
1. Betaine-homocysteine S-methyltransferase (BHMT) is one of the enzymes involved in the branch point metabolism of homocysteine. Elevated levels of plasma homocysteine may be a risk factor for the development of vascular disease; however, whether BHMT has a significant role in the regulation of plasma levels of homocysteine remains to be determined. As a prelude to creating a mouse strain deficient in BHMT activity, we screened a lambda library containing mouse SvJ 129 genomic DNA for the mouse BHMT gene using random probes made from the human cDNA. One genomic isolate was completely sequenced and found to encode an intronless BHMT pseudogene (mBHMT-ps). mBHMT-ps was then used as a template for the generation of random probes that were used to screen a BAC library containing mouse 129 Sv/Ev genomic DNA. In order to discriminate between pseudogenes and the authentic BHMT gene, a secondary PCR-based screen was employed which used primers designed from the pseudogene sequence that would predictably amplify across introns. Using this strategy, we isolated six mouse genomic clones that tested positive for the presence of all seven introns characteristic of the human gene, and the BHMT gene of one clone was completely sequenced. Like the human BHMT gene, the mouse gene spans 21kb and is encoded by eight exons interrupted by seven introns. The structure of the mouse BHMT gene is described herein as well as the 5'-flanking region of the gene adjacent to exon 1, which we demonstrate is capable of conferring basal promoter activity in Chinese Hamster Ovary cells. PMID: [10854776] 

2. The National Institutes of Health's Mammalian Gene Collection (MGC) project was designed to generate and sequence a publicly accessible cDNA resource containing a complete open reading frame (ORF) for every human and mouse gene. The project initially used a random strategy to select clones from a large number of cDNA libraries from diverse tissues. Candidate clones were chosen based on 5'-EST sequences, and then fully sequenced to high accuracy and analyzed by algorithms developed for this project. Currently, more than 11,000 human and 10,000 mouse genes are represented in MGC by at least one clone with a full ORF. The random selection approach is now reaching a saturation point, and a transition to protocols targeted at the missing transcripts is now required to complete the mouse and human collections. Comparison of the sequence of the MGC clones to reference genome sequences reveals that most cDNA clones are of very high sequence quality, although it is likely that some cDNAs may carry missense variants as a consequence of experimental artifact, such as PCR, cloning, or reverse transcriptase errors. Recently, a rat cDNA component was added to the project, and ongoing frog (Xenopus) and zebrafish (Danio) cDNA projects were expanded to take advantage of the high-throughput MGC pipeline. PMID: [15489334] 

3. This study describes comprehensive polling of transcription start and termination sites and analysis of previously unidentified full-length complementary DNAs derived from the mouse genome. We identify the 5' and 3' boundaries of 181,047 transcripts with extensive variation in transcripts arising from alternative promoter usage, splicing, and polyadenylation. There are 16,247 new mouse protein-coding transcripts, including 5154 encoding previously unidentified proteins. Genomic mapping of the transcriptome reveals transcriptional forests, with overlapping transcription on both strands, separated by deserts in which few transcripts are observed. The data provide a comprehensive platform for the comparative analysis of mammalian transcriptional regulation in differentiation and development. PMID: [16141072] 

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Function
Involved in the regulation of homocysteine metabolism.Converts betaine and homocysteine to dimethylglycine andmethionine, respectively. This reaction is also required for theirreversible oxidation of choline. 
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Subcellular Location
Cytoplasm. 
Tissue Specificity
 
Gene Ontology
GO IDGO termEvidence
GO:0005737 C:cytoplasm IEA:UniProtKB-SubCell.
GO:0047150 F:betaine-homocysteine S-methyltransferase activity IEA:EC.
GO:0008898 F:homocysteine S-methyltransferase activity IDA:MGI.
GO:0008270 F:zinc ion binding IEA:InterPro.
GO:0006579 P:amino-acid betaine catabolic process IEA:UniProtKB-UniPathway.
GO:0009086 P:methionine biosynthetic process IDA:MGI.
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Interpro
IPR017226;    Betaine-hCys_S-MeTrfase_BHMT.
IPR003726;    S_MeTrfase.
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Pfam
PF02574;    S-methyl_trans;    1.
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SMART
PROSITE
PS50970;    HCY;    1.
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PRINTS
Created Date
18-Oct-2012 
Record Type
GAS predicted 
Sequence Annotation
CHAIN         1    407       Betaine--homocysteine S-methyltransferase
                             1.
                             /FTId=PRO_0000114622.
DOMAIN       11    314       Hcy-binding.
METAL       217    217       Zinc (By similarity).
METAL       299    299       Zinc (By similarity).
METAL       300    300       Zinc (By similarity).
CONFLICT      7      7       K -> E (in Ref. 3; BAE26578).
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Nucleotide Sequence
Length: bp   Go to nucleotide: FASTA
Protein Sequence
Length: 407 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
UniProt
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