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

    Gene ID: 635, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BHMT in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (79111809..79132288)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (79592579..79615902)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (78407632..78428111)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene IMPACT pseudogene Neighboring gene dimethylglycine dehydrogenase Neighboring gene NANOG hESC enhancer GRCh37_chr5:78317526-78318027 Neighboring gene betaine--homocysteine S-methyltransferase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:78407958-78408802 Neighboring gene uncharacterized LOC124901012 Neighboring gene uncharacterized LOC124901011 Neighboring gene RNY3 pseudogene 1 Neighboring gene small nucleolar RNA SNORA18

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 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

    Preferred Names
    betaine--homocysteine S-methyltransferase 1
    Names
    epididymis secretory sperm binding protein Li 61p
    NP_001704.2
    XP_054209017.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5029..25508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001713.3NP_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
      Consensus CDS
      CCDS4046.1
      UniProtKB/Swiss-Prot
      Q93088, Q9UNI9
      UniProtKB/TrEMBL
      B2RCQ6, V9HWA4
      Related
      ENSP00000274353.5, ENST00000274353.10
      Conserved Domains (1) summary
      pfam02574
      Location:23312
      S-methyl_trans; Homocysteine S-methyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      79111809..79132288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      79592579..79615902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353042.1XP_054209017.1  betaine--homocysteine S-methyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      B2RCQ6