BHMT (betaine--homocysteine S-methyltransferase)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
635
Gene name Gene Name - the full gene name approved by the HGNC.
Betaine--homocysteine S-methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BHMT
Synonyms (NCBI Gene) Gene synonyms aliases
BHMT1, HEL-S-61p
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q14.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
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
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
NFKB1 Repression 16953798
RELA Repression 16953798
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000096 Process Sulfur amino acid metabolic process TAS
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
GO:0006479 Process Protein methylation NAS 10075673
GO:0006577 Process Amino-acid betaine metabolic process IDA 18230605
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602888 1047 ENSG00000145692
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Anencephaly Iniencephaly, Exencephaly rs773607884 17035141
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)		 23665415
Diffuse lymphoma Diffuse Mixed-Cell Lymphoma rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291 17119116
Lymphoma Lymphoma, Mixed-Cell, Lymphoma, Undifferentiated, Lymphoma, Small Noncleaved-Cell, Lymphoma, Diffuse, Lymphoma, Non-Hodgkin, Familial rs11540652, rs1592119138, rs1592123162, rs1599367044 17119116
Show/Hide Text Mining Associations (20)
Associations from Text Mining
Disease Name Relationship Type References
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