UniProtKB - Q93088 (BHMT1_HUMAN)
Protein
Betaine--homocysteine S-methyltransferase 1
Gene
BHMT
Organism
Homo sapiens (Human)
Status
Functioni
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.
Catalytic activityi
- EC:2.1.1.5
Cofactori
Zn2+Note: Binds 1 zinc ion per subunit.
: betaine degradation Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes sarcosine from betaine.Proteins known to be involved in the 2 steps of the subpathway in this organism are:
- Betaine--homocysteine S-methyltransferase 1 (BHMT)
- Dimethylglycine dehydrogenase, mitochondrial (DMGDH)
View all proteins of this organism that are known to be involved in the subpathway that synthesizes sarcosine from betaine, the pathway betaine degradation and in Amine and polyamine degradation.
Pathwayi: L-methionine biosynthesis via de novo pathway
This protein is involved in step 1 of the subpathway that synthesizes L-methionine from L-homocysteine (BhmT route).Proteins known to be involved in this subpathway in this organism are:
- cDNA, FLJ96222, highly similar to Homo sapiens betaine-homocysteine methyltransferase (BHMT), mRNA, Betaine-homocysteine methyltransferase, isoform CRA_a (HEL-S-61p), cDNA FLJ54604, highly similar to Betaine--homocysteine S-methyltransferase, S-methylmethionine--homocysteine S-methyltransferase BHMT2 (BHMT2), Betaine--homocysteine S-methyltransferase 1 (BHMT), cDNA, FLJ96586, highly similar to Homo sapiens betaine-homocysteine methyltransferase 2 (BHMT2), mRNA, Betaine-homocysteine methyltransferase 2, isoform CRA_c (BHMT2), Betaine--homocysteine S-methyltransferase 1 (BHMT)
View all proteins of this organism that are known to be involved in the subpathway that synthesizes L-methionine from L-homocysteine (BhmT route), the pathway L-methionine biosynthesis via de novo pathway and in Amino-acid biosynthesis.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 217 | Zinc | 1 | |
Metal bindingi | 299 | Zinc | 1 | |
Metal bindingi | 300 | Zinc | 1 |
GO - Molecular functioni
- betaine-homocysteine S-methyltransferase activity Source: BHF-UCL
- zinc ion binding Source: BHF-UCL
GO - Biological processi
- amino-acid betaine catabolic process Source: UniProtKB-UniPathway
- amino-acid betaine metabolic process Source: BHF-UCL
- choline catabolic process Source: Reactome
- L-methionine salvage Source: BHF-UCL
- protein methylation Source: UniProtKB
- regulation of homocysteine metabolic process Source: UniProtKB
- sulfur amino acid metabolic process Source: Reactome
Keywordsi
Molecular function | Methyltransferase, Transferase |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
BioCyci | MetaCyc:HS07273-MONOMER |
BRENDAi | 2.1.1.5, 2681 |
PathwayCommonsi | Q93088 |
Reactomei | R-HSA-1614635, Sulfur amino acid metabolism R-HSA-6798163, Choline catabolism |
SABIO-RKi | Q93088 |
SIGNORi | Q93088 |
UniPathwayi | UPA00051;UER00083 UPA00291;UER00432 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:BHMT |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1047, BHMT |
MIMi | 602888, gene |
neXtProti | NX_Q93088 |
VEuPathDBi | HostDB:ENSG00000145692.14 |
Subcellular locationi
Cytoplasm and Cytosol
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 635 |
OpenTargetsi | ENSG00000145692 |
PharmGKBi | PA25350 |
Miscellaneous databases
Pharosi | Q93088, Tchem |
Chemistry databases
ChEMBLi | CHEMBL4328 |
DrugBanki | DB00134, Methionine DB02337, S-(D-Carboxybutyl)-L-Homocysteine |
Genetic variation databases
BioMutai | BHMT |
DMDMi | 145559446 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000114621 | 1 – 406 | Betaine--homocysteine S-methyltransferase 1Add BLAST | 406 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 40 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 93 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 232 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 241 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 330 | PhosphoserineBy similarity | 1 | |
Modified residuei | 340 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 377 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q93088 |
jPOSTi | Q93088 |
MassIVEi | Q93088 |
PaxDbi | Q93088 |
PeptideAtlasi | Q93088 |
PRIDEi | Q93088 |
ProteomicsDBi | 75719 |
PTM databases
iPTMneti | Q93088 |
PhosphoSitePlusi | Q93088 |
Expressioni
Tissue specificityi
Found exclusively in liver and kidney.1 Publication
Gene expression databases
Bgeei | ENSG00000145692, Expressed in adult mammalian kidney and 119 other tissues |
ExpressionAtlasi | Q93088, baseline and differential |
Genevisiblei | Q93088, HS |
Organism-specific databases
HPAi | ENSG00000145692, Group enriched (kidney, liver) |
Interactioni
Subunit structurei
Homotetramer.
1 PublicationProtein-protein interaction databases
BioGRIDi | 107104, 11 interactors |
IntActi | Q93088, 7 interactors |
MINTi | Q93088 |
STRINGi | 9606.ENSP00000274353 |
Chemistry databases
BindingDBi | Q93088 |
Miscellaneous databases
RNActi | Q93088, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q93088 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q93088 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 11 – 314 | Hcy-bindingPROSITE-ProRule annotationAdd BLAST | 304 |
Phylogenomic databases
eggNOGi | KOG1579, Eukaryota |
GeneTreei | ENSGT00390000003122 |
InParanoidi | Q93088 |
OMAi | AQPLAYH |
OrthoDBi | 731388at2759 |
PhylomeDBi | Q93088 |
TreeFami | TF329202 |
Family and domain databases
Gene3Di | 3.20.20.330, 1 hit |
InterProi | View protein in InterPro IPR017226, Betaine-hCys_S-MeTrfase_BHMT IPR003726, HCY_dom IPR036589, HCY_dom_sf |
Pfami | View protein in Pfam PF02574, S-methyl_trans, 1 hit |
PIRSFi | PIRSF037505, Betaine_HMT, 1 hit |
SUPFAMi | SSF82282, SSF82282, 1 hit |
PROSITEi | View protein in PROSITE PS50970, HCY, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q93088-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MPPVGGKKAK KGILERLNAG EIVIGDGGFV FALEKRGYVK AGPWTPEAAV
60 70 80 90 100
EHPEAVRQLH REFLRAGSNV MQTFTFYASE DKLENRGNYV LEKISGQEVN
110 120 130 140 150
EAACDIARQV ADEGDALVAG GVSQTPSYLS CKSETEVKKV FLQQLEVFMK
160 170 180 190 200
KNVDFLIAEY FEHVEEAVWA VETLIASGKP VAATMCIGPE GDLHGVPPGE
210 220 230 240 250
CAVRLVKAGA SIIGVNCHFD PTISLKTVKL MKEGLEAARL KAHLMSQPLA
260 270 280 290 300
YHTPDCNKQG FIDLPEFPFG LEPRVATRWD IQKYAREAYN LGVRYIGGCC
310 320 330 340 350
GFEPYHIRAI AEELAPERGF LPPASEKHGS WGSGLDMHTK PWVRARARKE
360 370 380 390 400
YWENLRIASG RPYNPSMSKP DGWGVTKGTA ELMQQKEATT EQQLKELFEK
QKFKSQ
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE5RJH0 | E5RJH0_HUMAN | Betaine--homocysteine S-methyltrans... | BHMT | 253 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061345 | 199 | G → S. Corresponds to variant dbSNP:rs59866108EnsemblClinVar. | 1 | |
Natural variantiVAR_015886 | 239 | R → Q May decrease risk for coronary artery disease. 2 PublicationsCorresponds to variant dbSNP:rs3733890Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U50929 mRNA Translation: AAC50668.1 AF118378 , AF118371, AF118372, AF118373, AF118374, AF118375, AF118376, AF118377 Genomic DNA Translation: AAD22043.1 BC012616 mRNA Translation: AAH12616.1 |
CCDSi | CCDS4046.1 |
RefSeqi | NP_001704.2, NM_001713.2 |
Genome annotation databases
Ensembli | ENST00000274353; ENSP00000274353; ENSG00000145692 |
GeneIDi | 635 |
KEGGi | hsa:635 |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U50929 mRNA Translation: AAC50668.1 AF118378 , AF118371, AF118372, AF118373, AF118374, AF118375, AF118376, AF118377 Genomic DNA Translation: AAD22043.1 BC012616 mRNA Translation: AAH12616.1 |
CCDSi | CCDS4046.1 |
RefSeqi | NP_001704.2, NM_001713.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1LT7 | X-ray | 2.15 | A/B | 1-406 | [»] | |
1LT8 | X-ray | 2.05 | A/B | 1-406 | [»] | |
4M3P | X-ray | 1.90 | A/B/C/D | 1-406 | [»] | |
SMRi | Q93088 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107104, 11 interactors |
IntActi | Q93088, 7 interactors |
MINTi | Q93088 |
STRINGi | 9606.ENSP00000274353 |
Chemistry databases
BindingDBi | Q93088 |
ChEMBLi | CHEMBL4328 |
DrugBanki | DB00134, Methionine DB02337, S-(D-Carboxybutyl)-L-Homocysteine |
PTM databases
iPTMneti | Q93088 |
PhosphoSitePlusi | Q93088 |
Genetic variation databases
BioMutai | BHMT |
DMDMi | 145559446 |
Proteomic databases
EPDi | Q93088 |
jPOSTi | Q93088 |
MassIVEi | Q93088 |
PaxDbi | Q93088 |
PeptideAtlasi | Q93088 |
PRIDEi | Q93088 |
ProteomicsDBi | 75719 |
Protocols and materials databases
Antibodypediai | 12660, 459 antibodies |
Genome annotation databases
Ensembli | ENST00000274353; ENSP00000274353; ENSG00000145692 |
GeneIDi | 635 |
KEGGi | hsa:635 |
Organism-specific databases
CTDi | 635 |
DisGeNETi | 635 |
GeneCardsi | BHMT |
HGNCi | HGNC:1047, BHMT |
HPAi | ENSG00000145692, Group enriched (kidney, liver) |
MIMi | 602888, gene |
neXtProti | NX_Q93088 |
OpenTargetsi | ENSG00000145692 |
PharmGKBi | PA25350 |
VEuPathDBi | HostDB:ENSG00000145692.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1579, Eukaryota |
GeneTreei | ENSGT00390000003122 |
InParanoidi | Q93088 |
OMAi | AQPLAYH |
OrthoDBi | 731388at2759 |
PhylomeDBi | Q93088 |
TreeFami | TF329202 |
Enzyme and pathway databases
UniPathwayi | UPA00051;UER00083 UPA00291;UER00432 |
BioCyci | MetaCyc:HS07273-MONOMER |
BRENDAi | 2.1.1.5, 2681 |
PathwayCommonsi | Q93088 |
Reactomei | R-HSA-1614635, Sulfur amino acid metabolism R-HSA-6798163, Choline catabolism |
SABIO-RKi | Q93088 |
SIGNORi | Q93088 |
Miscellaneous databases
BioGRID-ORCSi | 635, 7 hits in 981 CRISPR screens |
ChiTaRSi | BHMT, human |
EvolutionaryTracei | Q93088 |
GenomeRNAii | 635 |
Pharosi | Q93088, Tchem |
PROi | PR:Q93088 |
RNActi | Q93088, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000145692, Expressed in adult mammalian kidney and 119 other tissues |
ExpressionAtlasi | Q93088, baseline and differential |
Genevisiblei | Q93088, HS |
Family and domain databases
Gene3Di | 3.20.20.330, 1 hit |
InterProi | View protein in InterPro IPR017226, Betaine-hCys_S-MeTrfase_BHMT IPR003726, HCY_dom IPR036589, HCY_dom_sf |
Pfami | View protein in Pfam PF02574, S-methyl_trans, 1 hit |
PIRSFi | PIRSF037505, Betaine_HMT, 1 hit |
SUPFAMi | SSF82282, SSF82282, 1 hit |
PROSITEi | View protein in PROSITE PS50970, HCY, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BHMT1_HUMAN | |
Accessioni | Q93088Primary (citable) accession number: Q93088 Secondary accession number(s): Q9UNI9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | April 17, 2007 | |
Last modified: | April 7, 2021 | |
This is version 188 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references