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UniProtKB - Q93088 (BHMT1_HUMAN)

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Protein

Betaine--homocysteine S-methyltransferase 1

Gene

BHMT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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), 5-methyltetrahydrofolate S-homocysteine methyltransferase (BQ8482_380007), Homocysteine S-methyltransferase (BQ8482_90047), Betaine--homocysteine S-methyltransferase 1 (BHMT)
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: BHF-UCL
  • zinc ion binding Source: BHF-UCL
View the complete GO annotation on QuickGO ...

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
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionMethyltransferase, Transferase
LigandMetal-binding, Zinc

Enzyme and pathway databases

BioCyciMetaCyc:HS07273-MONOMER
BRENDAi2.1.1.5 2681
ReactomeiR-HSA-1614635 Sulfur amino acid metabolism
R-HSA-6798163 Choline catabolism
SABIO-RKiQ93088
SIGNORiQ93088
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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000145692.14
HGNCiHGNC:1047 BHMT
MIMi602888 gene
neXtProtiNX_Q93088

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi635
OpenTargetsiENSG00000145692
PharmGKBiPA25350

Chemistry databases

ChEMBLiCHEMBL4328
DrugBankiDB04272 Citric Acid
DB00134 L-Methionine
DB02337 S-(D-Carboxybutyl)-L-Homocysteine

Polymorphism and mutation databases

BioMutaiBHMT
DMDMi145559446

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001146211 – 406Betaine--homocysteine S-methyltransferase 1Add BLAST406

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
ProteomicsDBi75719

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, 6 interactors
MINTiQ93088
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

ProteinModelPortaliQ93088
SMRiQ93088
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ93088

Family & Domainsi

Domains and Repeats

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

Phylogenomic databases

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

Family and domain databases

Gene3Di3.20.20.330, 1 hit
InterProiView protein in InterPro
IPR017226 Betaine-hCys_S-MeTrfase_BHMT
IPR003726 HCY_dom
IPR036589 HCY_dom_sf
PfamiView protein in Pfam
PF02574 S-methyl_trans, 1 hit
PIRSFiPIRSF037505 Betaine_HMT, 1 hit
SUPFAMiSSF82282 SSF82282, 1 hit
PROSITEiView protein in PROSITE
PS50970 HCY, 1 hit

Sequencei

Sequence statusi: Complete.

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 dbSNP:rs59866108Ensembl.1
Natural variantiVAR_015886239R → 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
CCDSiCCDS4046.1
RefSeqiNP_001704.2, NM_001713.2
UniGeneiHs.80756

Genome annotation databases

EnsembliENST00000274353; ENSP00000274353; ENSG00000145692
GeneIDi635
KEGGihsa:635

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBHMT1_HUMAN
AccessioniPrimary (citable) accession number: Q93088
Secondary accession number(s): Q9UNI9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 17, 2007
Last modified: July 18, 2018
This is version 172 of the entry and version 2 of the sequence. See 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

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