BHMT (betaine--homocysteine S-methyltransferase)

2010-01-01  

Identity

HGNC
LOCATION
5q14.1
LOCUSID
ALIAS
BHMT1,HEL-S-61p
FUSION GENES

Other Information

Locus ID:

NCBI: 635
MIM: 602888
HGNC: 1047
Ensembl: ENSG00000145692

Variants:

dbSNP: 635
ClinVar: 635
TCGA: ENSG00000145692
COSMIC: BHMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145692ENST00000274353Q93088
ENSG00000145692ENST00000274353V9HWA4
ENSG00000145692ENST00000524080E5RJH0

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Glycine, serine and threonine metabolismKEGGhsa00260
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Sulfur amino acid metabolismREACTOMER-HSA-1614635
Choline catabolismREACTOMER-HSA-6798163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
168161082006Common genetic polymorphisms affect the human requirement for the nutrient choline.82
194933492009118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.62
174363112007Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism.51
182306802008Choline metabolism and risk of breast cancer in a population-based study.48
170351412006Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.38
171191162007Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.32
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
122204882002Betaine-homocysteine methyltransferase: zinc in a distorted barrel.29

Citation

Dessen P

BHMT (betaine--homocysteine S-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51288/bhmt