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Q9H2M3

- BHMT2_HUMAN

UniProt

Q9H2M3 - BHMT2_HUMAN

Protein

S-methylmethionine--homocysteine S-methyltransferase BHMT2

Gene

BHMT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor.1 Publication

    Catalytic activityi

    S-methyl-L-methionine + L-homocysteine = 2 L-methionine.1 Publication

    Cofactori

    Binds 1 zinc ion per subunit.1 Publication

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi208 – 2081ZincPROSITE-ProRule annotation
    Metal bindingi290 – 2901ZincPROSITE-ProRule annotation
    Metal bindingi291 – 2911ZincPROSITE-ProRule annotation

    GO - Molecular functioni

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

    GO - Biological processi

    1. L-methionine salvage Source: BHF-UCL
    2. S-adenosylmethionine metabolic process Source: BHF-UCL
    3. S-methylmethionine metabolic process Source: BHF-UCL

    Keywords - Molecular functioni

    Methyltransferase, Transferase

    Keywords - Ligandi

    Metal-binding, Zinc

    Enzyme and pathway databases

    BioCyciMetaCyc:HS05696-MONOMER.
    UniPathwayiUPA00051; UER00083.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    S-methylmethionine--homocysteine S-methyltransferase BHMT2 (EC:2.1.1.10)
    Short name:
    SMM-hcy methyltransferase
    Alternative name(s):
    Betaine--homocysteine S-methyltransferase 2
    Gene namesi
    Name:BHMT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:1048. BHMT2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: InterPro
    2. extracellular vesicular exosome Source: UniProt

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25351.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 363363S-methylmethionine--homocysteine S-methyltransferase BHMT2PRO_0000273224Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei321 – 3211PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ9H2M3.
    PRIDEiQ9H2M3.

    PTM databases

    PhosphoSiteiQ9H2M3.

    Expressioni

    Tissue specificityi

    Expressed in liver and kidney and at reduced levels in the brain, heart, and skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiQ9H2M3.
    BgeeiQ9H2M3.
    CleanExiHS_BHMT2.
    GenevestigatoriQ9H2M3.

    Organism-specific databases

    HPAiHPA044573.

    Interactioni

    Subunit structurei

    Homotetramer By similarity. May interact with PRNP.By similarity

    Protein-protein interaction databases

    BioGridi117245. 1 interaction.
    STRINGi9606.ENSP00000255192.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H2M3.
    SMRiQ9H2M3. Positions 10-362.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini11 – 305295Hcy-bindingPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 Hcy-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG0646.
    HOGENOMiHOG000231636.
    HOVERGENiHBG080367.
    InParanoidiQ9H2M3.
    OMAiPEGDMHD.
    OrthoDBiEOG79GT7C.
    PhylomeDBiQ9H2M3.
    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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H2M3-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAPAGRPGAK KGILERLESG EVVIGDGSFL ITLEKRGYVK AGLWTPEAVI    50
    EHPDAVRQLH MEFLRAGSNV MQTFTFSASE DNMESKWEDV NAAACDLARE 100
    VAGKGDALVA GGICQTSIYK YQKDEARIKK LFRQQLEVFA WKNVDFLIAE 150
    YFEHVEEAVW AVEVLKESDR PVAVTMCIGP EGDMHDITPG ECAVRLVKAG 200
    ASIVGVNCRF GPDTSLKTME LMKEGLEWAG LKAHLMVQPL GFHAPDCGKE 250
    GFVDLPEYPF GLESRVATRW DIQKYAREAY NLGVRYIGGC CGFEPYHIRA 300
    IAEELAPERG FLPPASEKHG SWGSGLDMHT KPWIRARARR EYWENLLPAS 350
    GRPFCPSLSK PDF 363
    Length:363
    Mass (Da):40,354
    Last modified:March 1, 2001 - v1
    Checksum:i92D35414D2D56003
    GO
    Isoform 2 (identifier: Q9H2M3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         87-150: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:299
    Mass (Da):33,167
    Checksum:i763335314695E79E
    GO

    Sequence cautioni

    The sequence BAA90880.1 differs from that shown. Reason: Erroneous initiation.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei87 – 15064Missing in isoform 2. 1 PublicationVSP_042938Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF257473 mRNA. Translation: AAG41356.1.
    AK000008 mRNA. Translation: BAA90880.1. Different initiation.
    AK298298 mRNA. Translation: BAH12752.1.
    AC008502 Genomic DNA. No translation available.
    BC020665 mRNA. Translation: AAH20665.1.
    CCDSiCCDS4045.1. [Q9H2M3-1]
    CCDS54871.1. [Q9H2M3-2]
    RefSeqiNP_001171476.1. NM_001178005.1. [Q9H2M3-2]
    NP_060084.2. NM_017614.4. [Q9H2M3-1]
    UniGeneiHs.114172.

    Genome annotation databases

    EnsembliENST00000255192; ENSP00000255192; ENSG00000132840. [Q9H2M3-1]
    ENST00000521567; ENSP00000430278; ENSG00000132840. [Q9H2M3-2]
    GeneIDi23743.
    KEGGihsa:23743.
    UCSCiuc003kft.3. human. [Q9H2M3-1]
    uc011cth.2. human. [Q9H2M3-2]

    Polymorphism databases

    DMDMi74733563.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF257473 mRNA. Translation: AAG41356.1 .
    AK000008 mRNA. Translation: BAA90880.1 . Different initiation.
    AK298298 mRNA. Translation: BAH12752.1 .
    AC008502 Genomic DNA. No translation available.
    BC020665 mRNA. Translation: AAH20665.1 .
    CCDSi CCDS4045.1. [Q9H2M3-1 ]
    CCDS54871.1. [Q9H2M3-2 ]
    RefSeqi NP_001171476.1. NM_001178005.1. [Q9H2M3-2 ]
    NP_060084.2. NM_017614.4. [Q9H2M3-1 ]
    UniGenei Hs.114172.

    3D structure databases

    ProteinModelPortali Q9H2M3.
    SMRi Q9H2M3. Positions 10-362.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117245. 1 interaction.
    STRINGi 9606.ENSP00000255192.

    Chemistry

    ChEMBLi CHEMBL2163167.
    DrugBanki DB00134. L-Methionine.

    PTM databases

    PhosphoSitei Q9H2M3.

    Polymorphism databases

    DMDMi 74733563.

    Proteomic databases

    PaxDbi Q9H2M3.
    PRIDEi Q9H2M3.

    Protocols and materials databases

    DNASUi 23743.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000255192 ; ENSP00000255192 ; ENSG00000132840 . [Q9H2M3-1 ]
    ENST00000521567 ; ENSP00000430278 ; ENSG00000132840 . [Q9H2M3-2 ]
    GeneIDi 23743.
    KEGGi hsa:23743.
    UCSCi uc003kft.3. human. [Q9H2M3-1 ]
    uc011cth.2. human. [Q9H2M3-2 ]

    Organism-specific databases

    CTDi 23743.
    GeneCardsi GC05P078401.
    HGNCi HGNC:1048. BHMT2.
    HPAi HPA044573.
    MIMi 605932. gene.
    neXtProti NX_Q9H2M3.
    PharmGKBi PA25351.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0646.
    HOGENOMi HOG000231636.
    HOVERGENi HBG080367.
    InParanoidi Q9H2M3.
    OMAi PEGDMHD.
    OrthoDBi EOG79GT7C.
    PhylomeDBi Q9H2M3.
    TreeFami TF329202.

    Enzyme and pathway databases

    UniPathwayi UPA00051 ; UER00083 .
    BioCyci MetaCyc:HS05696-MONOMER.

    Miscellaneous databases

    ChiTaRSi BHMT2. human.
    GenomeRNAii 23743.
    NextBioi 46663.
    PROi Q9H2M3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H2M3.
    Bgeei Q9H2M3.
    CleanExi HS_BHMT2.
    Genevestigatori Q9H2M3.

    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. "Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes."
      Chadwick L.H., McCandless S.E., Silverman G.L., Schwartz S., Westaway D., Nadeau J.H.
      Genomics 70:66-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, POSSIBLE INTERACTION WITH PRNP.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 11-363 (ISOFORM 1).
      Tissue: Adipose tissue and Kidney.
    3. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 1).
      Tissue: Liver.
    5. "Betaine-homocysteine S-methyltransferase-2 is an S-methylmethionine-homocysteine methyltransferase."
      Szegedi S.S., Castro C.C., Koutmos M., Garrow T.A.
      J. Biol. Chem. 283:8939-8945(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, COFACTOR, ZINC-BINDING.

    Entry informationi

    Entry nameiBHMT2_HUMAN
    AccessioniPrimary (citable) accession number: Q9H2M3
    Secondary accession number(s): B7Z516, Q9NXX7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2007
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 102 of the entry and version 1 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3