Bhmt betaine-homocysteine methyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bhmtprovided by MGI
Official Full Name: betaine-homocysteine methyltransferaseprovided by MGI
Primary source: MGI:MGI:1339972
See related: Ensembl:ENSMUSG00000074768 AllianceGenome:MGI:1339972
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables betaine-homocysteine S-methyltransferase activity. Acts upstream of or within methionine biosynthetic process. Predicted to be located in extracellular exosome and nucleus. Predicted to be part of protein-containing complex. Predicted to be active in cytosol. Is expressed in several structures, including brain ventricle and choroid plexus; early conceptus; gonad; liver; and male reproductive gland or organ. Human ortholog(s) of this gene implicated in cerebral infarction and pulmonary embolism. Orthologous to human BHMT (betaine--homocysteine S-methyltransferase). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in liver adult (RPKM 336.5), liver E18 (RPKM 100.1) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 13 C3; 13 47.87 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (93753399..93774266, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (93616891..93637758, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulation of Betaine Homocysteine Methyltransferase by Liver Receptor Homolog-1 in the Methionine Cycle.
Title: Regulation of Betaine Homocysteine Methyltransferase by Liver Receptor Homolog-1 in the Methionine Cycle.
Betaine-homocysteine methyltransferase promotes adipocyte commitment and insulin resistance via p38 MAPK/Smad signaling.
Title: Betaine-homocysteine methyltransferase promotes adipocyte commitment and insulin resistance via p38 MAPK/Smad signaling.
This study uncovered a novel antisense lncRNA (Bhmt-AS) that is co-expressed with Bhmt and concordantly and specifically regulates Bhmt expression both in vitro and in vivo to regulate hepatic gluconeogenesis.
Title: Long non-coding RNA Bhmt-AS attenuates hepatic gluconeogenesis via modulation of Bhmt expression.
BHMT plays a central role in the homeostasis of cochlear methionine metabolism and Bhmt2 up-regulation could carry out a compensatory role in cochlear protection against noise injury in the absence of BHMT
Title: Betaine-homocysteine S-methyltransferase deficiency causes increased susceptibility to noise-induced hearing loss associated with plasma hyperhomocysteinemia.
Taurine treatment induced BHMT expression in HCU mice by 5-fold and restored maximal lowering of Hcy levels during long-term betaine treatment with a concomitant normalization of inflammatory cytokine expression and a significantly improved coagulative phenotype.
Title: Taurine alleviates repression of betaine-homocysteine S-methyltransferase and significantly improves the efficacy of long-term betaine treatment in a mouse model of cystathionine β-synthase-deficient homocystinuria.
Data indicate that improved Sp1 transcription factor (Sp1) and betaine homocysteine-S-methyltransferase (BHMT) expression are involved in the effects of zinc on oxidative stress.
Title: Improved Sp1 and Betaine Homocysteine-S-Methyltransferase Expression and Homocysteine Clearance Are Involved in the Effects of Zinc on Oxidative Stress in High-Fat-Diet-Pretreated Mice.
Bhmt(-/-) mice maintained on a control diet had elevated concentrations of homocysteine, reduced total brain magnetic resonance imaging volume, as well as impaired reference and short-term memories.
Title: Reduced brain volume and impaired memory in betaine homocysteine S-methyltransferase knockout mice.
BHMT expression is robustly regulated by taurine.
Title: Downregulation of hepatic betaine:homocysteine methyltransferase (BHMT) expression in taurine-deficient mice is reversed by taurine supplementation in vivo.
It was concluded that the BHMT pathway is a major route for the elimination of Hcy in mice and that the methionine synthase pathway has little excess capacity to methylate the Hcy that accumulates when the BHMT pathway is blocked.
Title: Homocysteinemia in mice with genetic betaine homocysteine S-methyltransferase deficiency is independent of dietary folate intake.
mouse blastocysts are unusual in being able to generate AdoMet not only by the ubiquitous folate-dependent mechanism but also from betaine metabolized by BHMT
Title: Betaine homocysteine methyltransferase is active in the mouse blastocyst and promotes inner cell mass development.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables betaine-homocysteine S-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables betaine-homocysteine S-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables betaine-homocysteine S-methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in 'de novo' L-methionine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in L-methionine salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-methionine salvage	ISO Inferred from Sequence Orthology more info
involved_in amino-acid betaine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in amino-acid betaine metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within methionine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in methionine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in methylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: betaine--homocysteine S-methyltransferase 1

NP_057877.1

EC 2.1.1.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.