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Q93088

- BHMT1_HUMAN

UniProt

Q93088 - BHMT1_HUMAN

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
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 2 (17 Apr 2007)
      Previous versions | rss
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    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

    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. S-methylmethionine-homocysteine S-methyltransferase activity Source: BHF-UCL
    4. 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. S-methylmethionine metabolic process Source: BHF-UCL
    10. sulfur amino acid metabolic process Source: Reactome

    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

    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

    ArrayExpressiQ93088.
    BgeeiQ93088.
    CleanExiHS_BHMT.
    GenevestigatoriQ93088.

    Organism-specific databases

    HPAiHPA038285.

    Interactioni

    Subunit structurei

    Homotetramer.1 Publication

    Protein-protein interaction databases

    BioGridi107104. 6 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 – 186
    Helixi29 – 368
    Turni41 – 433
    Helixi48 – 514
    Helixi53 – 6513
    Beta strandi69 – 724
    Helixi97 – 11115
    Turni112 – 1154
    Beta strandi117 – 1226
    Helixi126 – 1294
    Helixi133 – 15119
    Beta strandi154 – 1585
    Helixi164 – 17411
    Helixi175 – 1773
    Beta strandi181 – 1855
    Helixi198 – 2069
    Turni207 – 2093
    Beta strandi211 – 2199
    Helixi221 – 23616
    Turni237 – 2393
    Beta strandi243 – 2475
    Helixi261 – 2633
    Turni265 – 2695
    Helixi272 – 2743
    Helixi278 – 29114
    Beta strandi293 – 2964
    Helixi304 – 31310
    Helixi315 – 3184
    Helixi323 – 3275
    Helixi333 – 3375
    Helixi341 – 3444
    Helixi349 – 3546

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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 10-398.
    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

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    MPPVGGKKAK KGILERLNAG EIVIGDGGFV FALEKRGYVK AGPWTPEAAV    50
    EHPEAVRQLH REFLRAGSNV MQTFTFYASE DKLENRGNYV LEKISGQEVN 100
    EAACDIARQV ADEGDALVAG GVSQTPSYLS CKSETEVKKV FLQQLEVFMK 150
    KNVDFLIAEY FEHVEEAVWA VETLIASGKP VAATMCIGPE GDLHGVPPGE 200
    CAVRLVKAGA SIIGVNCHFD PTISLKTVKL MKEGLEAARL KAHLMSQPLA 250
    YHTPDCNKQG FIDLPEFPFG LEPRVATRWD IQKYAREAYN LGVRYIGGCC 300
    GFEPYHIRAI AEELAPERGF LPPASEKHGS WGSGLDMHTK PWVRARARKE 350
    YWENLRIASG RPYNPSMSKP DGWGVTKGTA ELMQQKEATT EQQLKELFEK 400
    QKFKSQ 406
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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 10-398.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107104. 6 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

    EvolutionaryTracei Q93088.
    GenomeRNAii 635.
    NextBioi 2568.
    PROi Q93088.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q93088.
    Bgeei Q93088.
    CleanExi HS_BHMT.
    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

    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: October 1, 2014
    This is version 137 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