Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	635
Gene name	Betaine--homocysteine S-methyltransferase
Gene symbol	BHMT
Synonyms (NCBI Gene)	BHMT1HEL-S-61p
Chromosome	5
Chromosome location	5q14.1
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. [provid

Show/Hide all (11)

miRTarBase ID	miRNA	Experiments
MIRT821361	hsa-miR-103a	CLIP-seq
MIRT821362	hsa-miR-107	CLIP-seq
MIRT821363	hsa-miR-1914	CLIP-seq
MIRT821364	hsa-miR-3074-5p	CLIP-seq
MIRT821365	hsa-miR-3944-5p	CLIP-seq
MIRT821366	hsa-miR-4519	CLIP-seq
MIRT821367	hsa-miR-587	CLIP-seq
MIRT1942807	hsa-miR-4650-3p	CLIP-seq
MIRT1942807	hsa-miR-4650-3p	CLIP-seq
MIRT2181567	hsa-miR-4796-3p	CLIP-seq
MIRT2181568	hsa-miR-548t	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
NFKB1	Repression	16953798
RELA	Repression	16953798

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006479	Process	Protein methylation	NAS	10075673
GO:0006575	Process	Modified amino acid metabolic process	IEA
GO:0006577	Process	Amino-acid betaine metabolic process	IDA	18230605
GO:0006579	Process	Amino-acid betaine catabolic process	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008172	Function	S-methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	12220488, 18230605
GO:0008270	Function	Zinc ion binding	IEA
GO:0009086	Process	Methionine biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0046500	Process	S-adenosylmethionine metabolic process	IDA	18230605
GO:0046872	Function	Metal ion binding	IEA
GO:0047150	Function	Betaine-homocysteine S-methyltransferase activity	IBA
GO:0047150	Function	Betaine-homocysteine S-methyltransferase activity	IDA	8798461, 9681996, 10529246, 18230605
GO:0047150	Function	Betaine-homocysteine S-methyltransferase activity	IEA
GO:0047150	Function	Betaine-homocysteine S-methyltransferase activity	NAS	10075673
GO:0050666	Process	Regulation of homocysteine metabolic process	NAS	10075673
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0071266	Process	'de novo' L-methionine biosynthetic process	IMP	10529246
GO:0071267	Process	L-methionine salvage	IBA
GO:0071267	Process	L-methionine salvage	IDA	18230605
GO:0071267	Process	L-methionine salvage	IEA

MIM	HGNC	e!Ensembl
602888	1047	ENSG00000145692

Q93088

Protein name

Betaine--homocysteine S-methyltransferase 1 (EC 2.1.1.5)

Protein function

Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline. {ECO:0000269|PubMed:10529246, ECO

PDB

1LT7 , 1LT8 , 4M3P , 8D45

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02574	S-methyl_trans	23 → 314	Homocysteine S-methyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Found exclusively in liver and kidney. {ECO:0000269|PubMed:9281325}.

Sequence

MPPVGGKKAKKGILERLNAGEIVIGDGGFVFALEKRGYVKAGPWTPEAAVEHPEAVRQLH
REFLRAGSNVMQTFTFYASEDKLENRGNYVLEKISGQEVNEAACDIARQVADEGDALVAG
GVSQTPSYLSCKSETEVKKVFLQQLEVFMKKNVDFLIAEYFEHVEEAVWAVETLIASGKP
VAATMCIGPEGDLHGVPPGECAVRLVKAGASIIGVNCHFDPTISLKTVKLMKEGLEAARL
KAHLMSQPLAYHTPDCNKQGFIDLPEFPFGLEPRVATRWDIQKYAREAYNLGVRYIGGCC
GFEPYHIRAIAEELAPERGFLPPASEKHGSWGSGLDMHTKPWVRARARKEYWENLRIASG
RPYNPSMSKPDGWGVTKGTAELMQQKEATTEQQLKELFEKQKFKSQ

Sequence length

406

Interactions

View interactions

	KEGG		Reactome
	Glycine, serine and threonine metabolism Cysteine and methionine metabolism One carbon pool by folate Metabolic pathways Folate transport and metabolism		Sulfur amino acid metabolism Choline catabolism

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
BHMT-related disorder	Likely benign	rs753107730	RCV003913849

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abruptio Placentae	Associate	17376725
Breast Neoplasms	Associate	19635752
Carcinogenesis	Associate	26592251
Carcinoma Hepatocellular	Associate	23462207, 26592251, 27936032, 39516467
Carcinoma Hepatocellular	Inhibit	40102459
Celiac Disease	Associate	21688148
Cleft Lip	Associate	21565678, 27604992
Cleft Palate	Associate	21565678, 25716564, 27604992, 31063268
Congenital contractural arachnodactyly	Associate	27822905
Conotruncal cardiac defects	Associate	19493349
Down Syndrome	Associate	22377700
Glioblastoma	Associate	37441590
Heart Defects Congenital	Associate	20664391, 25846410, 28264803
Neoplasms	Inhibit	26592251, 40102459
Neoplasms	Associate	37441590
Neural Tube Defects	Associate	17035141
Obesity	Associate	20664391
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	28582843
Pulmonary Embolism	Associate	37203835
Spinal Dysraphism	Associate	19493349

BHMT (betaine--homocysteine S-methyltransferase)