BHMT - betaine--homocysteine S-methyltransferase Gene

Also Known as BHMT1; HEL-S-61p

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 635

About BHMT

Cytogenetic location: 5q14.1 Genomic coordinates (GRCh38): 5:79,111,809-79,132,288 (from NCBI)

This gene has 6 transcripts (splice variants), 304 orthologues and 4 paralogues. Biased expression in kidney (RPKM 481.8) and liver (RPKM 260.9).

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]

BHMT Products (1)

mRNA	Protein	Name
NM_001713.3	NP_001704.2	betaine--homocysteine S-methyltransferase 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables betaine-homocysteine S-methyltransferase activity	IDA IDA: Inferred from direct assay	8798461	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	12220488	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in 'de novo' L-methionine biosynthetic process	IMP IMP: Inferred from mutant phenotype	10529246	GOA
involved in L-methionine salvage	IDA IDA: Inferred from direct assay	18230605	GOA
NOT involved in S-adenosylmethionine metabolic process	IDA IDA: Inferred from direct assay	18230605	GOA
involved in amino-acid betaine metabolic process	IDA IDA: Inferred from direct assay	18230605	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular exosome	IDA IDA: Inferred from direct assay	21082674	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BHMT Protein Structure

S-methyl_trans

0
100
200
300
406 a.a.

Protein Preferred Names	Protein Names
betaine--homocysteine S-methyltransferase 1	epididymis secretory sperm binding protein Li 61p

BHMT Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82804	BHMT Antibody (YA2549)	WB, IHC-P, IP	Human
HY-P85053	BHMT Antibody (YA4745)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Hyperhomocysteinemia
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Homocystinuria	Cystathionine Beta Synthase Deficiency Homocysteinemia Cbs Deficiency Cystathionine Synthase Deficiency Cystathionine Beta-Synthase Deficiency Disease
Choline Deficiency Disease	Choline Deficiency
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Vascular Anomaly Spinal Cord Vascular Diseases Vascular Tissue Disease
Hypermethioninemia	Hepatic Methionine Adenosyltransferase Deficiency Deficiency Of Methionine Adenosyltransferase Glycine N-Methyltransferase Deficiency Met S-Adenosylhomocysteine Hydrolase Deficiency Gnmt Deficiency Mat Deficiency Methionine Adenosyltransferase Deficiency Methioninemia Deficiency Of Acetyl-Coa Acetyltransferase
Glycine N-Methyltransferase Deficiency	GNMT DEFICIENCY Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency Hypermethioninemia Due To Gnmt Deficiency Hypermethioninemia Hepatic Methionine Adenosyltransferase Deficiency
Mast Syndrome	SPG21 Spastic Paraplegia 21, Autosomal Recessive Autosomal Recessive Spastic Paraplegia Type 21 Autosomal Recessive Spastic Paraplegia 21 Hereditary Spastic Paraplegia 21
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Mental Retardation, X-Linked 3 Methylmalonic Acidemia With Homocystinuria, Type Cblx MAHCX Intellectual Developmental Disorder, X-Linked 3 Xlid3 Mrx3 Methylmalonic Acidemia And Homocysteinemia Cblx Type Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx Methylmalonic Aciduria With Homocystinuria, Type Cblx Methylmalonic Acidemia And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia , Cblx Type Mental Retardation, X-Linked, Type 3
Vitamin B12 Deficiency	Cobalamin Deficiency Hypocobalaminemia Vitamin B 12 Deficiency Cyanocobalamin Deficiency Deficiency Of Vitamin B12
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Orofacial Cleft	Cleft, Orofacial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-116688	2-Hydroxy-4-(methylthio)butyric acid		88.0%	Unkown
HY-RS01495	BHMT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01496	BHMT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	BHMT	RGD	RGD:621496
Macaca mulatta	BHMT	VGNC	VGNC:70247
Canis familiaris	BHMT	VGNC	VGNC:38447
Mus musculus	BHMT	MGD	MGI:1339972
Bos taurus	BHMT	VGNC	VGNC:26488
Others	BHMT	NCBI