Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol BHMT contributors: mct - updated : 07-04-2020
HGNC name betaine-homocysteine methyltransferase
HGNC id 1047
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • zinc-binding domains
  • a C-terminal alpha-helix (~30 residues) that extends from one monomer towards another located immediately below or above, establishing a large number of hydrophobic interactions
  • conjugated MetalloP
    mono polymer homomer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic,microsome
    intracellular,nucleus
    text
  • both in the cytoplasm and the nuclear compartment in most cell types
  • basic FUNCTION
  • converting betaine to dimethylglycine
  • remethylating homocysteine to methionine along with methionine synthase
  • role for BHMT in energy homeostasis
  • zinc-dependent methyltransferase that uses betaine as the methyl donor for the remethylation of homocysteine to form methionine
  • BHMT and BHMT2 convert homocysteine to methionine using betaine and S-methylmethionine, respectively, as methyl donor substrates
  • absence of BHMT may play a role in neurological function
  • is a link between osmoregulation, phospholipid synthesis and methionine/Hcy metabolism
  • BHMT and CBS are major enzymes in the metabolism of plasma homocysteine (Hcy)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • zinc Zn2+
  • the role of potassium ions in BHMT is structural and potassium ion facilitates the specific binding of homocysteine to the active site of the enzyme
  • protein
  • can interact with BHMT2 in the cellular environment
  • with at least partial stabilization of BHMT2
  • BHMT interaction with HMGB1 requires translocation of the latter from the nucleus to the cytoplasm
  • YWHAE-BHMT interaction is lost in the presence of low salt concentrations, whereas the BHMT2-BHMT interaction remains stable
  • cell & other
    REGULATION
    activated by by potassium ions
    Other novel antisense lncRNA (BHMT-AS) that is co-expressed with BHMT and concordantly and specifically regulates BHMT expression to regulate hepatic gluconeogenes
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in hepatocellular carcinoma associated with poor prognosis
    tumoral       loss of function
    transcription variant of exon 4 produces a loss of function of BHMT in human hepatocarcinoma
    Susceptibility
  • to placental abruption
  • to Neural tube defects (NTD)
  • to variability of efficacy of oral folate therapy in patients with hyperhomocysteinemia
  • Variant & Polymorphism other
  • (742G >A) polymorphism associated to increased risk for placental abruption
  • BHMT, rs763726268, is a components of NTD risk
  • association between the BHMT gene rs3733890 polymorphism and the efficacy of oral folate therapy in patients with hyperhomocysteinemia
  • Candidate gene candidate gene for non-syndromic cleft lip with or without cleft palate (NSCL/P
    Marker
  • lower levels of BHMT and CBS methylation are all predictors of failure in folic acid therapy for HHCY (hyperhomocysteinemia)
  • BHMT could be served as a potential prognostic marker for HCC patients
  • is a specific and sensitive blood marker for acute liver injury
  • Therapy target
    ANIMAL & CELL MODELS
  • Bhmt-/- mice maintained on a control diet had elevated concentrations of homocysteine, reduced total brain magnetic resonance imaging (MRI) volume, as well as impaired reference and short-term memories