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

Gene ID: 635, updated on 5-Aug-2018

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; Vega:OTTHUMG00000108157
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

Genomic context

See BHMT in Genome Data Viewer
Location:
5q14.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (79111781..79132290)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (78407604..78428113)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene IMPACT pseudogene Neighboring gene dimethylglycine dehydrogenase Neighboring gene betaine--homocysteine S-methyltransferase 2 Neighboring gene RNA, Ro-associated Y3 pseudogene 1 Neighboring gene junction mediating and regulatory protein, p53 cofactor Neighboring gene ribosomal protein S3a pseudogene 20

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Amino Acid metabolism, organism-specific biosystem (from WikiPathways)
    Amino Acid metabolism, organism-specific biosystemA complete overview of the metabolism of all 20 amino acids
  • Choline catabolism, organism-specific biosystem (from REACTOME)
    Choline catabolism, organism-specific biosystemCholine is an essential water-soluble nutrient in humans, serving as a precursor of phospholipids and the neurotransmitter acetylcholine. It is often associated with B vitamins based on its chemical ...
  • Cysteine and methionine metabolism, organism-specific biosystem (from KEGG)
    Cysteine and methionine metabolism, organism-specific biosystemCysteine and methionine are sulfur-containing amino acids. Cysteine is synthesized from serine through different pathways in different organism groups. In bacteria and plants, cysteine is converted f...
  • Cysteine and methionine metabolism, conserved biosystem (from KEGG)
    Cysteine and methionine metabolism, conserved biosystemCysteine and methionine are sulfur-containing amino acids. Cysteine is synthesized from serine through different pathways in different organism groups. In bacteria and plants, cysteine is converted f...
  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Glycine, serine and threonine metabolism, organism-specific biosystem (from KEGG)
    Glycine, serine and threonine metabolism, organism-specific biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • Glycine, serine and threonine metabolism, conserved biosystem (from KEGG)
    Glycine, serine and threonine metabolism, conserved biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • L-methionine salvage from L-homocysteine, conserved biosystem (from BIOCYC)
    L-methionine salvage from L-homocysteine, conserved biosystemGeneral Background |FRAME: MET "Methionine"| is an essential amino acid in mammals. It is not biosynthesized and must be obtained in the diet. Methionine, or its metabolites, participate in fundamen...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • One Carbon Metabolism, organism-specific biosystem (from WikiPathways)
    One Carbon Metabolism, organism-specific biosystemThis one-carbon metabolism pathway is centered around folate. Folate has two key carbon-carbon double bonds. Saturating one of them yields dihydrofolate (DHF) and adding an additional molecule of hyd...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Sulfur amino acid metabolism, organism-specific biosystem (from REACTOME)
    Sulfur amino acid metabolism, organism-specific biosystemThe main sulfur amino acids are methionine, cysteine, homocysteine and taurine. Of these, the first two are proteinogenic.This group of reactions contains all processes that 1) break down sulfur amin...
  • Trans-sulfuration and one carbon metabolism, organism-specific biosystem (from WikiPathways)
    Trans-sulfuration and one carbon metabolism, organism-specific biosystem
    Trans-sulfuration and one carbon metabolism
  • glycine betaine degradation, organism-specific biosystem (from BIOCYC)
    glycine betaine degradation, organism-specific biosystemBackground : BETAINE "Glycine betaine" plays an important osmoprotectant role in mammals, protects from several other forms of cellular stress and functions as a methyl group donor . In mammals, gly...
  • glycine betaine degradation II (mammalian), conserved biosystem (from BIOCYC)
    glycine betaine degradation II (mammalian), conserved biosystemBackground |FRAME: BETAINE "Glycine betaine"| plays an important osmoprotectant role in mammals, protects from several other forms of cellular stress and functions as a methyl group donor |CITS: [20...
  • methionine salvage, organism-specific biosystem (from BIOCYC)
    methionine salvage, organism-specific biosystemGeneral Background : MET "Methionine" is an essential amino acid in mammals. It is not biosynthesized and must be obtained in the diet. Methionine, or its metabolites, participate in fundamental pro...
  • superpathway of L-methionine salvage and degradation, conserved biosystem (from BIOCYC)
    superpathway of L-methionine salvage and degradation, conserved biosystemPlease note: This is a superpathway that describes the degradation of the amino acid |FRAME: MET| in mammals. For more information about this pathway, please consult the different subpathways that ma...
  • superpathway of choline degradation to L-serine, organism-specific biosystem (from BIOCYC)
    superpathway of choline degradation to L-serine, organism-specific biosystemBackground : CHOLINE "Choline" plays a key role in several pathways and its concentration in vivo is carefully regulated. Choline is an essential nutrient for fetal and brain development. It is invo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
betaine-homocysteine S-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
betaine-homocysteine S-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
betaine-homocysteine S-methyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
betaine-homocysteine S-methyltransferase activity TAS
Traceable Author Statement
more info
 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
L-methionine salvage IDA
Inferred from Direct Assay
more info
PubMed 
NOT S-adenosylmethionine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
amino-acid betaine catabolic process IEA
Inferred from Electronic Annotation
more info
 
amino-acid betaine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
choline catabolic process TAS
Traceable Author Statement
more info
 
protein methylation NAS
Non-traceable Author Statement
more info
PubMed 
regulation of homocysteine metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
sulfur amino acid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
betaine--homocysteine S-methyltransferase 1
Names
epididymis secretory sperm binding protein Li 61p
NP_001704.2

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029156.1 RefSeqGene

    Range
    5001..25510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001713.2NP_001704.2  betaine--homocysteine S-methyltransferase 1

    See identical proteins and their annotated locations for NP_001704.2

    Status: REVIEWED

    Source sequence(s)
    BC012616, BM678994, DA370221
    Consensus CDS
    CCDS4046.1
    UniProtKB/Swiss-Prot
    Q93088
    UniProtKB/TrEMBL
    V9HWA4
    Related
    ENSP00000274353.5, OTTHUMP00000135297, ENST00000274353.9, OTTHUMT00000226961
    Conserved Domains (1) summary
    pfam02574
    Location:23312
    S-methyl_trans; Homocysteine S-methyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    79111781..79132290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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