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
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly Homo sapiens
Nervousbrain     Homo sapiens
Reproductivemale systemtestis    Homo sapiens
Urinarykidney   lowly Homo sapiens
Visualeyelens  highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivehepatocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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