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BHMT (betaine--homocysteine S-methyltransferase)

Identity

Alias_symbol (synonym)BHMT1
Other aliasHEL-S-61p
HGNC (Hugo) BHMT
LocusID (NCBI) 635
Atlas_Id 51288
Location 5q14.1  [Link to chromosome band 5q14]
Location_base_pair Starts at 79111781 and ends at 79132290 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GOLIM4 (3q26.2) / BHMT (5q14.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)BHMT   1047
Cards
Entrez_Gene (NCBI)BHMT  635  betaine--homocysteine S-methyltransferase
AliasesBHMT1; HEL-S-61p
GeneCards (Weizmann)BHMT
Ensembl hg19 (Hinxton)ENSG00000145692 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145692 [Gene_View]  chr5:79111781-79132290 [Contig_View]  BHMT [Vega]
ICGC DataPortalENSG00000145692
TCGA cBioPortalBHMT
AceView (NCBI)BHMT
Genatlas (Paris)BHMT
WikiGenes635
SOURCE (Princeton)BHMT
Genetics Home Reference (NIH)BHMT
Genomic and cartography
GoldenPath hg38 (UCSC)BHMT  -     chr5:79111781-79132290 +  5q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BHMT  -     5q14.1   [Description]    (hg19-Feb_2009)
EnsemblBHMT - 5q14.1 [CytoView hg19]  BHMT - 5q14.1 [CytoView hg38]
Mapping of homologs : NCBIBHMT [Mapview hg19]  BHMT [Mapview hg38]
OMIM602888   
Gene and transcription
Genbank (Entrez)AK298308 AK303780 AK315224 BC012616 BM678994
RefSeq transcript (Entrez)NM_001713
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BHMT
Cluster EST : UnigeneHs.80756 [ NCBI ]
CGAP (NCI)Hs.80756
Alternative Splicing GalleryENSG00000145692
Gene ExpressionBHMT [ NCBI-GEO ]   BHMT [ EBI - ARRAY_EXPRESS ]   BHMT [ SEEK ]   BHMT [ MEM ]
Gene Expression Viewer (FireBrowse)BHMT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)635
GTEX Portal (Tissue expression)BHMT
Human Protein AtlasENSG00000145692-BHMT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ93088   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ93088  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ93088
Splice isoforms : SwissVarQ93088
PhosPhoSitePlusQ93088
Domaine pattern : Prosite (Expaxy)HCY (PS50970)   
Domains : Interpro (EBI)Betaine-hCys_S-MeTrfase_BHMT    HCY_dom   
Domain families : Pfam (Sanger)S-methyl_trans (PF02574)   
Domain families : Pfam (NCBI)pfam02574   
Conserved Domain (NCBI)BHMT
DMDM Disease mutations635
Blocks (Seattle)BHMT
PDB (SRS)1LT7    1LT8    4M3P   
PDB (PDBSum)1LT7    1LT8    4M3P   
PDB (IMB)1LT7    1LT8    4M3P   
PDB (RSDB)1LT7    1LT8    4M3P   
Structural Biology KnowledgeBase1LT7    1LT8    4M3P   
SCOP (Structural Classification of Proteins)1LT7    1LT8    4M3P   
CATH (Classification of proteins structures)1LT7    1LT8    4M3P   
SuperfamilyQ93088
Human Protein Atlas [tissue]ENSG00000145692-BHMT [tissue]
Peptide AtlasQ93088
HPRD04200
IPIIPI00004101   IPI00910055   IPI00909794   IPI00974278   
Protein Interaction databases
DIP (DOE-UCLA)Q93088
IntAct (EBI)Q93088
FunCoupENSG00000145692
BioGRIDBHMT
STRING (EMBL)BHMT
ZODIACBHMT
Ontologies - Pathways
QuickGOQ93088
Ontology : AmiGOsulfur amino acid metabolic process  cytosol  cytosol  protein methylation  amino-acid betaine metabolic process  amino-acid betaine catabolic process  zinc ion binding  choline catabolic process  S-adenosylmethionine metabolic process  betaine-homocysteine S-methyltransferase activity  betaine-homocysteine S-methyltransferase activity  betaine-homocysteine S-methyltransferase activity  regulation of homocysteine metabolic process  extracellular exosome  L-methionine salvage  
Ontology : EGO-EBIsulfur amino acid metabolic process  cytosol  cytosol  protein methylation  amino-acid betaine metabolic process  amino-acid betaine catabolic process  zinc ion binding  choline catabolic process  S-adenosylmethionine metabolic process  betaine-homocysteine S-methyltransferase activity  betaine-homocysteine S-methyltransferase activity  betaine-homocysteine S-methyltransferase activity  regulation of homocysteine metabolic process  extracellular exosome  L-methionine salvage  
Pathways : KEGGGlycine, serine and threonine metabolism    Cysteine and methionine metabolism   
NDEx NetworkBHMT
Atlas of Cancer Signalling NetworkBHMT
Wikipedia pathwaysBHMT
Orthology - Evolution
OrthoDB635
GeneTree (enSembl)ENSG00000145692
Phylogenetic Trees/Animal Genes : TreeFamBHMT
HOVERGENQ93088
HOGENOMQ93088
Homologs : HomoloGeneBHMT
Homology/Alignments : Family Browser (UCSC)BHMT
Gene fusions - Rearrangements
Tumor Fusion PortalBHMT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBHMT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BHMT
dbVarBHMT
ClinVarBHMT
1000_GenomesBHMT 
Exome Variant ServerBHMT
ExAC (Exome Aggregation Consortium)ENSG00000145692
GNOMAD BrowserENSG00000145692
Genetic variants : HAPMAP635
Genomic Variants (DGV)BHMT [DGVbeta]
DECIPHERBHMT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBHMT 
Mutations
ICGC Data PortalBHMT 
TCGA Data PortalBHMT 
Broad Tumor PortalBHMT
OASIS PortalBHMT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBHMT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBHMT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BHMT
DgiDB (Drug Gene Interaction Database)BHMT
DoCM (Curated mutations)BHMT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BHMT (select a term)
intoGenBHMT
Cancer3DBHMT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602888   
Orphanet
DisGeNETBHMT
MedgenBHMT
Genetic Testing Registry BHMT
NextProtQ93088 [Medical]
TSGene635
GENETestsBHMT
Target ValidationBHMT
Huge Navigator BHMT [HugePedia]
snp3D : Map Gene to Disease635
BioCentury BCIQBHMT
ClinGenBHMT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD635
Chemical/Pharm GKB GenePA25350
Clinical trialBHMT
Miscellaneous
canSAR (ICR)BHMT (select the gene name)
Probes
Litterature
PubMed90 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBHMT
EVEXBHMT
GoPubMedBHMT
iHOPBHMT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:04:50 CET 2017

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