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Q93088

- BHMT1_HUMAN

UniProt

Q93088 - BHMT1_HUMAN

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Protein

Betaine--homocysteine S-methyltransferase 1

Gene

BHMT

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi217 – 2171Zinc
Metal bindingi299 – 2991Zinc
Metal bindingi300 – 3001Zinc

GO - Molecular functioni

  1. betaine-homocysteine S-methyltransferase activity Source: UniProtKB
  2. S-adenosylmethionine-homocysteine S-methyltransferase activity Source: InterPro
  3. zinc ion binding Source: BHF-UCL

GO - Biological processi

  1. amino-acid betaine catabolic process Source: UniProtKB-UniPathway
  2. amino-acid betaine metabolic process Source: BHF-UCL
  3. cellular nitrogen compound metabolic process Source: Reactome
  4. L-methionine salvage Source: BHF-UCL
  5. protein methylation Source: UniProtKB
  6. regulation of homocysteine metabolic process Source: UniProtKB
  7. response to organonitrogen compound Source: Ensembl
  8. small molecule metabolic process Source: Reactome
  9. 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.
BRENDAi2.1.1.5. 2681.
ReactomeiREACT_115639. Sulfur amino acid metabolism.
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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:1047. BHMT.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. cytosol Source: Reactome
  3. extracellular vesicular exosome Source: UniProtKB
  4. protein complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25350.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 406405Betaine--homocysteine S-methyltransferase 1PRO_0000114621Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei40 – 401N6-succinyllysineBy similarity
Modified residuei93 – 931N6-succinyllysineBy similarity
Modified residuei232 – 2321N6-succinyllysineBy similarity
Modified residuei241 – 2411N6-succinyllysineBy similarity
Modified residuei340 – 3401N6-succinyllysineBy similarity
Modified residuei377 – 3771N6-succinyllysineBy similarity

Proteomic databases

MaxQBiQ93088.
PaxDbiQ93088.
PRIDEiQ93088.

PTM databases

PhosphoSiteiQ93088.

Expressioni

Tissue specificityi

Found exclusively in liver and kidney.1 Publication

Gene expression databases

BgeeiQ93088.
CleanExiHS_BHMT.
ExpressionAtlasiQ93088. baseline and differential.
GenevestigatoriQ93088.

Organism-specific databases

HPAiHPA038285.

Interactioni

Subunit structurei

Homotetramer.1 Publication

Protein-protein interaction databases

BioGridi107104. 9 interactions.
IntActiQ93088. 5 interactions.
MINTiMINT-246738.
STRINGi9606.ENSP00000274353.

Structurei

Secondary structure

1
406
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi13 – 186Combined sources
Helixi29 – 357Combined sources
Turni41 – 433Combined sources
Helixi48 – 514Combined sources
Helixi53 – 6614Combined sources
Beta strandi69 – 724Combined sources
Helixi97 – 11115Combined sources
Turni112 – 1154Combined sources
Beta strandi117 – 1237Combined sources
Helixi126 – 1294Combined sources
Helixi134 – 15118Combined sources
Beta strandi154 – 1629Combined sources
Helixi164 – 17512Combined sources
Beta strandi181 – 1855Combined sources
Helixi198 – 20710Combined sources
Beta strandi211 – 2199Combined sources
Helixi221 – 23717Combined sources
Beta strandi243 – 2475Combined sources
Helixi261 – 2633Combined sources
Turni265 – 2695Combined sources
Helixi272 – 2743Combined sources
Helixi278 – 29013Combined sources
Beta strandi293 – 2964Combined sources
Helixi304 – 31310Combined sources
Helixi315 – 3184Combined sources
Helixi323 – 3275Combined sources
Helixi330 – 3356Combined sources
Helixi341 – 3444Combined sources
Helixi349 – 3546Combined sources
Helixi377 – 40024Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1LT7X-ray2.15A/B1-406[»]
1LT8X-ray2.05A/B1-406[»]
4M3PX-ray1.90A/B/C/D1-406[»]
ProteinModelPortaliQ93088.
SMRiQ93088. Positions 8-403.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ93088.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini11 – 314304Hcy-bindingPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 Hcy-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG0646.
HOGENOMiHOG000231636.
HOVERGENiHBG080367.
InParanoidiQ93088.
KOiK00544.
OMAiWGVTKGT.
OrthoDBiEOG79GT7C.
PhylomeDBiQ93088.
TreeFamiTF329202.

Family and domain databases

Gene3Di3.20.20.330. 1 hit.
InterProiIPR017226. Betaine-hCys_S-MeTrfase_BHMT.
IPR003726. S_MeTrfase.
[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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti199 – 1991G → S.
Corresponds to variant rs59866108 [ dbSNP | Ensembl ].
VAR_061345
Natural varianti239 – 2391R → Q May decrease risk for coronary artery disease. 2 Publications
Corresponds to variant rs3733890 [ dbSNP | Ensembl ].
VAR_015886

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.
UCSCiuc003kfu.4. human.

Polymorphism databases

DMDMi145559446.

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 .
CCDSi CCDS4046.1.
RefSeqi NP_001704.2. NM_001713.2.
UniGenei Hs.80756.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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 [» ]
ProteinModelPortali Q93088.
SMRi Q93088. Positions 8-403.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107104. 9 interactions.
IntActi Q93088. 5 interactions.
MINTi MINT-246738.
STRINGi 9606.ENSP00000274353.

Chemistry

BindingDBi Q93088.
ChEMBLi CHEMBL4328.
DrugBanki DB00134. L-Methionine.

PTM databases

PhosphoSitei Q93088.

Polymorphism databases

DMDMi 145559446.

Proteomic databases

MaxQBi Q93088.
PaxDbi Q93088.
PRIDEi Q93088.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000274353 ; ENSP00000274353 ; ENSG00000145692 .
GeneIDi 635.
KEGGi hsa:635.
UCSCi uc003kfu.4. human.

Organism-specific databases

CTDi 635.
GeneCardsi GC05P078443.
HGNCi HGNC:1047. BHMT.
HPAi HPA038285.
MIMi 602888. gene.
neXtProti NX_Q93088.
PharmGKBi PA25350.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0646.
HOGENOMi HOG000231636.
HOVERGENi HBG080367.
InParanoidi Q93088.
KOi K00544.
OMAi WGVTKGT.
OrthoDBi EOG79GT7C.
PhylomeDBi Q93088.
TreeFami TF329202.

Enzyme and pathway databases

UniPathwayi UPA00051 ; UER00083 .
UPA00291 ; UER00432 .
BioCyci MetaCyc:HS07273-MONOMER.
BRENDAi 2.1.1.5. 2681.
Reactomei REACT_115639. Sulfur amino acid metabolism.
SABIO-RK Q93088.

Miscellaneous databases

ChiTaRSi BHMT. human.
EvolutionaryTracei Q93088.
GenomeRNAii 635.
NextBioi 2568.
PROi Q93088.
SOURCEi Search...

Gene expression databases

Bgeei Q93088.
CleanExi HS_BHMT.
ExpressionAtlasi Q93088. baseline and differential.
Genevestigatori Q93088.

Family and domain databases

Gene3Di 3.20.20.330. 1 hit.
InterProi IPR017226. Betaine-hCys_S-MeTrfase_BHMT.
IPR003726. S_MeTrfase.
[Graphical view ]
Pfami PF02574. S-methyl_trans. 1 hit.
[Graphical view ]
PIRSFi PIRSF037505. Betaine_HMT. 1 hit.
SUPFAMi SSF82282. SSF82282. 1 hit.
PROSITEi PS50970. HCY. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Purification, kinetic properties, and cDNA cloning of mammalian betaine-homocysteine methyltransferase."
    Garrow T.A.
    J. Biol. Chem. 271:22831-22838(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-239.
    Tissue: Liver.
  2. "Interaction between dietary methionine and methyl donor intake on rat liver betaine-homocysteine methyltransferase gene expression and organization of the human gene."
    Park E.I., Garrow T.A.
    J. Biol. Chem. 274:7816-7824(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Lung.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Kidney.
  4. "Betaine-homocysteine methyltransferase expression in porcine and human tissues and chromosomal localization of the human gene."
    Sunden S.L.F., Renduchintala M.S., Park E.I., Miklasz S.D., Garrow T.A.
    Arch. Biochem. Biophys. 345:171-174(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  5. "Human betaine-homocysteine methyltransferase is a zinc metalloenzyme."
    Millian N.S., Garrow T.A.
    Arch. Biochem. Biophys. 356:93-98(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION, ZINC-BINDING.
    Tissue: Liver.
  6. "Betaine-homocysteine methyltransferase: zinc in a distorted barrel."
    Evans J.C., Huddler D.P., Jiracek J., Castro C., Millian N.S., Garrow T.A., Ludwig M.L.
    Structure 10:1159-1171(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.05 ANGSTROMS), SUBUNIT.
  7. "Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease."
    Weisberg I.S., Park E., Ballman K.V., Berger P., Nunn M., Suh D.S., Breksa A.P., Garrow T.A., Rozen R.
    Atherosclerosis 167:205-214(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLN-239.

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 26, 2014
This is version 139 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

External Data

Dasty 3