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

Gene ID: 635, updated on 8-Jul-2021

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
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
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Genomic context

See BHMT in Genome Data Viewer
Location:
5q14.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (79111809..79132288)
105.20201022 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 betaine--homocysteine S-methyltransferase 2 Neighboring gene RNY3 pseudogene 1 Neighboring gene junction mediating and regulatory protein, p53 cofactor Neighboring gene RPS3A 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
GeneReviews: Not available
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
GeneReviews: Not available
Genome-wide association study of selenium concentrations.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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)

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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.

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
    UniProtKB/TrEMBL
    V9HWA4
    Related
    ENSP00000274353.5, ENST00000274353.10
    Conserved Domains (1) summary
    pfam02574
    Location:23312
    S-methyl_trans; Homocysteine S-methyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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