Human Gene BHMT (ENST00000274353.10) from GENCODE V44
  Description: Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA. (from RefSeq NM_001713)
RefSeq Summary (NM_001713): 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].
Gencode Transcript: ENST00000274353.10
Gencode Gene: ENSG00000145692.15
Transcript (Including UTRs)
   Position: hg38 chr5:79,111,809-79,132,288 Size: 20,480 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr5:79,111,886-79,131,116 Size: 19,231 Coding Exon Count: 8 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:79,111,809-79,132,288)mRNA (may differ from genome)Protein (406 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BHMT
Diseases sorted by gene-association score: hyperhomocysteinemia (13), choline deficiency disease (7), neural tube defects (4), vascular disease (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 198.73 RPKM in Liver
Total median expression: 273.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.3077-0.303 Picture PostScript Text
3' UTR -267.801172-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
      
      
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  EU794592 - Homo sapiens epididymis secretory sperm binding protein Li 61p (HEL-S-61p) mRNA, complete cds.
AK315224 - Homo sapiens cDNA, FLJ96222, highly similar to Homo sapiens betaine-homocysteine methyltransferase (BHMT), mRNA.
AK298308 - Homo sapiens cDNA FLJ54604 complete cds, highly similar to Betaine--homocysteine S-methyltransferase (EC 2.1.1.5).
AK303780 - Homo sapiens cDNA FLJ50349 complete cds, moderately similar to Betaine--homocysteine S-methyltransferase (EC 2.1.1.5).
BC012616 - Homo sapiens betaine-homocysteine methyltransferase, mRNA (cDNA clone MGC:13645 IMAGE:4045543), complete cds.
U50929 - Human betaine:homocysteine methyltransferase mRNA, complete cds.
JD439030 - Sequence 420054 from Patent EP1572962.
AB590690 - Synthetic construct DNA, clone: pFN21AE1881, Homo sapiens BHMT gene for betaine-homocysteine methyltransferase, without stop codon, in Flexi system.
KJ896496 - Synthetic construct Homo sapiens clone ccsbBroadEn_05890 BHMT gene, encodes complete protein.
KR710325 - Synthetic construct Homo sapiens clone CCSBHm_00011490 BHMT (BHMT) mRNA, encodes complete protein.
JD082368 - Sequence 63392 from Patent EP1572962.
JD378366 - Sequence 359390 from Patent EP1572962.
JD271877 - Sequence 252901 from Patent EP1572962.
JD178128 - Sequence 159152 from Patent EP1572962.
JD206680 - Sequence 187704 from Patent EP1572962.
JD444703 - Sequence 425727 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00260 - Glycine, serine and threonine metabolism
hsa00270 - Cysteine and methionine metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
ADENOSYLHOMOCYSCAT-PWY - L-methionine salvage from L-homocysteine
PWY-3661-1 - glycine betaine degradation II (mammalian)
PWY-5328 - superpathway of methionine degradation
PWY66-414 - superpathway of choline degradation to L-serine

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000274353.1, ENST00000274353.2, ENST00000274353.3, ENST00000274353.4, ENST00000274353.5, ENST00000274353.6, ENST00000274353.7, ENST00000274353.8, ENST00000274353.9, NM_001713, uc003kfu.1, uc003kfu.2, uc003kfu.3, uc003kfu.4, uc003kfu.5, uc003kfu.6, V9HWA4
UCSC ID: ENST00000274353.10
RefSeq Accession: NM_001713
CCDS: CCDS4046.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.