BHMT betaine--homocysteine S-methyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: BHMTprovided by HGNC
Official Full Name: betaine--homocysteine S-methyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:1047
See related: Ensembl:ENSG00000145692 MIM:602888; AllianceGenome:HGNC:1047
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BHMT1; HEL-S-61p
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]
Expression: Biased expression in kidney (RPKM 481.8) and liver (RPKM 260.9) See more
Orthologs: mouse all
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Genomic context

Location:: 5q14.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (79111809..79132288)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (79592579..79615902)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (78407632..78428111)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BHMT polymorphism and susceptibility to PTE in Chinese patients.
Title: BHMT polymorphism and susceptibility to PTE in Chinese patients.
Interaction analysis of gene variants related to one-carbon metabolism with chronic hepatitis B infection in Chinese patients.
Title: Interaction analysis of gene variants related to one-carbon metabolism with chronic hepatitis B infection in Chinese patients.
The BHMT-betaine methylation pathway epigenetically modulates oligodendrocyte maturation.
Title: The BHMT-betaine methylation pathway epigenetically modulates oligodendrocyte maturation.
Associations between folate and choline intake, homocysteine metabolism, and genetic polymorphism of MTHFR, BHMT and PEMT in healthy pregnant Polish women.
Title: Associations between folate and choline intake, homocysteine metabolism, and genetic polymorphism of MTHFR, BHMT and PEMT in healthy pregnant Polish women.
Association of Betaine-Homocysteine S-Methyl Transferase (rs3797546 and rs3733890) polymorphisms with non-syndromic cleft lip/palate: A meta-analysis.
Title: Association of Betaine-Homocysteine S-Methyl Transferase (rs3797546 and rs3733890) polymorphisms with non-syndromic cleft lip/palate: A meta-analysis.
Lower levels of BHMT or CBS promoter total methylation might be associated with increased the risk of treatment failure.
Title: Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemia.
It can be inferred from the data obtained that folate system genetic variants and mild hyperhomocysteimenia may affect ADHD associated traits by attenuating folate metabolism.
Title: Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems.
Our study suggested markers in BHMT/BHMT2 and DMGDH might affect the risk of NSCL/P through pairwise interaction.
Title: Evidence of interaction between genes in the folate/homocysteine metabolic pathway in controlling risk of non-syndromic oral cleft.
BHMT (rs3733890) polymorphism showed no association with ALL. Hence this investigation needs further evaluation in larger sample size and effect of other SNPs, CNVs and miRNA's is required to elucidate the role of BHMT gene in ALL development.
Title: Acute lymphoblastic leukemia and genetic variations in BHMT gene: Case-control study and computational characterization.
In genotypic combination analysis considering PEMT -744GG/CHDH +432GG/BHMT +742GG as the reference combination, PEMT -744GC/CHDH +432GG/BHMT +742GG genotypic combination was significantly higher in mothers of a down syndrome child compared with that in control mothers with an odds ratio of 2.061 (95% CI: 1.10-3.86, P=0.0342).
Title: Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci affecting blood copper, selenium and zinc. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of selenium concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH16250 (e-PCR)
- UniSTS:71469

RH35961 (e-PCR)
- UniSTS:72797

SHGC-56646 (e-PCR)
- UniSTS:52326

SGC33609 (e-PCR)
- UniSTS:81267

SHGC-33971 (e-PCR)
- UniSTS:11667

RH91498 (e-PCR)
- UniSTS:89287

RH80672 (e-PCR)
- UniSTS:90858

Gene Ontology Provided by GOA

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	NAS Non-traceable Author Statement more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' L-methionine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-methionine salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-methionine salvage	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in S-adenosylmethionine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in amino-acid betaine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in amino-acid betaine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein methylation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of homocysteine metabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: betaine--homocysteine S-methyltransferase 1

Names: epididymis secretory sperm binding protein Li 61p

NP_001704.2

EC 2.1.1.5

XP_054209017.1

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.