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Protein

Betaine--homocysteine S-methyltransferase 1

Gene

BHMT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

Trimethylammonioacetate + L-homocysteine = dimethylglycine + L-methionine.

Cofactori

Zn2+Note: Binds 1 zinc ion per subunit.

Pathwayi: betaine degradation

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:
  1. Betaine--homocysteine S-methyltransferase 1 (BHMT)
  2. Dimethylglycine dehydrogenase, mitochondrial (DMGDH)
This subpathway is part of the pathway betaine degradation, which is itself part of Amine and polyamine degradation.
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:
  1. 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 (EC 2.1.1.5), 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)
This subpathway is part of the pathway L-methionine biosynthesis via de novo pathway, which is itself part of Amino-acid biosynthesis.
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 keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi217Zinc1
Metal bindingi299Zinc1
Metal bindingi300Zinc1

GO - Molecular functioni

  • betaine-homocysteine S-methyltransferase activity Source: UniProtKB
  • S-adenosylmethionine-homocysteine S-methyltransferase activity Source: GO_Central
  • 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
Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciMetaCyc:HS07273-MONOMER.
ZFISH:HS07273-MONOMER.
BRENDAi2.1.1.5. 2681.
ReactomeiR-HSA-1614635. Sulfur amino acid metabolism.
R-HSA-6798163. Choline catabolism.
SABIO-RKQ93088.
UniPathwayiUPA00051; UER00083.
UPA00291; UER00432.

Names & Taxonomyi

Protein namesi
Recommended name:
Betaine--homocysteine S-methyltransferase 1 (EC:2.1.1.5)
Gene namesi
Name:BHMT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:1047. BHMT.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: GO_Central
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi635.
OpenTargetsiENSG00000145692.
PharmGKBiPA25350.

Chemistry databases

ChEMBLiCHEMBL4328.
DrugBankiDB00134. L-Methionine.

Polymorphism and mutation databases

BioMutaiBHMT.
DMDMi145559446.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00001146212 – 406Betaine--homocysteine S-methyltransferase 1Add BLAST405

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei40N6-succinyllysineBy similarity1
Modified residuei93N6-succinyllysineBy similarity1
Modified residuei232N6-succinyllysineBy similarity1
Modified residuei241N6-succinyllysineBy similarity1
Modified residuei330PhosphoserineBy similarity1
Modified residuei340N6-succinyllysineBy similarity1
Modified residuei377N6-succinyllysineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ93088.
PaxDbiQ93088.
PeptideAtlasiQ93088.
PRIDEiQ93088.

PTM databases

iPTMnetiQ93088.
PhosphoSitePlusiQ93088.

Expressioni

Tissue specificityi

Found exclusively in liver and kidney.1 Publication

Gene expression databases

BgeeiENSG00000145692.
CleanExiHS_BHMT.
ExpressionAtlasiQ93088. baseline and differential.
GenevisibleiQ93088. HS.

Organism-specific databases

HPAiHPA038285.
HPA058310.

Interactioni

Subunit structurei

Homotetramer.1 Publication

Protein-protein interaction databases

BioGridi107104. 11 interactors.
IntActiQ93088. 5 interactors.
MINTiMINT-246738.
STRINGi9606.ENSP00000274353.

Chemistry databases

BindingDBiQ93088.

Structurei

Secondary structure

1406
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi13 – 18Combined sources6
Helixi29 – 35Combined sources7
Turni41 – 43Combined sources3
Helixi48 – 51Combined sources4
Helixi53 – 66Combined sources14
Beta strandi69 – 72Combined sources4
Helixi97 – 111Combined sources15
Turni112 – 115Combined sources4
Beta strandi117 – 123Combined sources7
Helixi126 – 129Combined sources4
Helixi134 – 151Combined sources18
Beta strandi154 – 162Combined sources9
Helixi164 – 175Combined sources12
Beta strandi181 – 185Combined sources5
Helixi198 – 207Combined sources10
Beta strandi211 – 219Combined sources9
Helixi221 – 237Combined sources17
Beta strandi243 – 247Combined sources5
Helixi261 – 263Combined sources3
Turni265 – 269Combined sources5
Helixi272 – 274Combined sources3
Helixi278 – 290Combined sources13
Beta strandi293 – 296Combined sources4
Helixi304 – 313Combined sources10
Helixi315 – 318Combined sources4
Helixi323 – 327Combined sources5
Helixi330 – 335Combined sources6
Helixi341 – 344Combined sources4
Helixi349 – 354Combined sources6
Helixi377 – 400Combined sources24

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LT7X-ray2.15A/B1-406[»]
1LT8X-ray2.05A/B1-406[»]
4M3PX-ray1.90A/B/C/D1-406[»]
ProteinModelPortaliQ93088.
SMRiQ93088.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ93088.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini11 – 314Hcy-bindingPROSITE-ProRule annotationAdd BLAST304

Sequence similaritiesi

Contains 1 Hcy-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1579. Eukaryota.
COG0646. LUCA.
GeneTreeiENSGT00390000003122.
HOGENOMiHOG000231636.
HOVERGENiHBG080367.
InParanoidiQ93088.
KOiK00544.
OMAiAQPLAYH.
OrthoDBiEOG091G09QD.
PhylomeDBiQ93088.
TreeFamiTF329202.

Family and domain databases

Gene3Di3.20.20.330. 1 hit.
InterProiIPR017226. Betaine-hCys_S-MeTrfase_BHMT.
IPR003726. HCY_dom.
[Graphical view]
PfamiPF02574. S-methyl_trans. 1 hit.
[Graphical view]
PIRSFiPIRSF037505. Betaine_HMT. 1 hit.
SUPFAMiSSF82282. SSF82282. 1 hit.
PROSITEiPS50970. HCY. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q93088-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:406
Mass (Da):44,998
Last modified:April 17, 2007 - v2
Checksum:i557855B8CEDD0D54
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061345199G → S.Corresponds to variant rs59866108dbSNPEnsembl.1
Natural variantiVAR_015886239R → Q May decrease risk for coronary artery disease. 2 PublicationsCorresponds to variant rs3733890dbSNPEnsembl.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.
CCDSiCCDS4046.1.
RefSeqiNP_001704.2. NM_001713.2.
UniGeneiHs.80756.

Genome annotation databases

EnsembliENST00000274353; ENSP00000274353; ENSG00000145692.
GeneIDi635.
KEGGihsa:635.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS4046.1.
RefSeqiNP_001704.2. NM_001713.2.
UniGeneiHs.80756.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LT7X-ray2.15A/B1-406[»]
1LT8X-ray2.05A/B1-406[»]
4M3PX-ray1.90A/B/C/D1-406[»]
ProteinModelPortaliQ93088.
SMRiQ93088.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107104. 11 interactors.
IntActiQ93088. 5 interactors.
MINTiMINT-246738.
STRINGi9606.ENSP00000274353.

Chemistry databases

BindingDBiQ93088.
ChEMBLiCHEMBL4328.
DrugBankiDB00134. L-Methionine.

PTM databases

iPTMnetiQ93088.
PhosphoSitePlusiQ93088.

Polymorphism and mutation databases

BioMutaiBHMT.
DMDMi145559446.

Proteomic databases

EPDiQ93088.
PaxDbiQ93088.
PeptideAtlasiQ93088.
PRIDEiQ93088.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000274353; ENSP00000274353; ENSG00000145692.
GeneIDi635.
KEGGihsa:635.

Organism-specific databases

CTDi635.
DisGeNETi635.
GeneCardsiBHMT.
HGNCiHGNC:1047. BHMT.
HPAiHPA038285.
HPA058310.
MIMi602888. gene.
neXtProtiNX_Q93088.
OpenTargetsiENSG00000145692.
PharmGKBiPA25350.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1579. Eukaryota.
COG0646. LUCA.
GeneTreeiENSGT00390000003122.
HOGENOMiHOG000231636.
HOVERGENiHBG080367.
InParanoidiQ93088.
KOiK00544.
OMAiAQPLAYH.
OrthoDBiEOG091G09QD.
PhylomeDBiQ93088.
TreeFamiTF329202.

Enzyme and pathway databases

UniPathwayiUPA00051; UER00083.
UPA00291; UER00432.
BioCyciMetaCyc:HS07273-MONOMER.
ZFISH:HS07273-MONOMER.
BRENDAi2.1.1.5. 2681.
ReactomeiR-HSA-1614635. Sulfur amino acid metabolism.
R-HSA-6798163. Choline catabolism.
SABIO-RKQ93088.

Miscellaneous databases

ChiTaRSiBHMT. human.
EvolutionaryTraceiQ93088.
GenomeRNAii635.
PROiQ93088.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145692.
CleanExiHS_BHMT.
ExpressionAtlasiQ93088. baseline and differential.
GenevisibleiQ93088. HS.

Family and domain databases

Gene3Di3.20.20.330. 1 hit.
InterProiIPR017226. Betaine-hCys_S-MeTrfase_BHMT.
IPR003726. HCY_dom.
[Graphical view]
PfamiPF02574. S-methyl_trans. 1 hit.
[Graphical view]
PIRSFiPIRSF037505. Betaine_HMT. 1 hit.
SUPFAMiSSF82282. SSF82282. 1 hit.
PROSITEiPS50970. HCY. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBHMT1_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 159 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.