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Q02338

- BDH_HUMAN

UniProt

Q02338 - BDH_HUMAN

Protein

D-beta-hydroxybutyrate dehydrogenase, mitochondrial

Gene

BDH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 3 (15 Nov 2002)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    (R)-3-hydroxybutanoate + NAD+ = acetoacetate + NADH.

    Enzyme regulationi

    Requires phosphatidylcholine as an allosteric activator for enzymatic activity.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei195 – 1951SubstrateBy similarity
    Active sitei208 – 2081Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi59 – 8325NADBy similarityAdd
    BLAST

    GO - Molecular functioni

    1. 3-hydroxybutyrate dehydrogenase activity Source: UniProtKB
    2. phospholipid binding Source: Ensembl

    GO - Biological processi

    1. adipose tissue development Source: Ensembl
    2. brain development Source: Ensembl
    3. cellular ketone body metabolic process Source: Reactome
    4. cellular lipid metabolic process Source: Reactome
    5. ketone body biosynthetic process Source: Reactome
    6. ketone body catabolic process Source: Reactome
    7. liver development Source: Ensembl
    8. response to cadmium ion Source: Ensembl
    9. response to corticosterone Source: Ensembl
    10. response to drug Source: Ensembl
    11. response to estradiol Source: Ensembl
    12. response to ethanol Source: Ensembl
    13. response to growth hormone Source: Ensembl
    14. response to insulin Source: Ensembl
    15. response to nutrient Source: Ensembl
    16. response to starvation Source: Ensembl
    17. response to toxic substance Source: Ensembl
    18. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    NAD

    Enzyme and pathway databases

    BioCyciMetaCyc:HS08579-MONOMER.
    ReactomeiREACT_1464. Synthesis of Ketone Bodies.
    REACT_59. Utilization of Ketone Bodies.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    D-beta-hydroxybutyrate dehydrogenase, mitochondrial (EC:1.1.1.30)
    Short name:
    BDH
    Alternative name(s):
    3-hydroxybutyrate dehydrogenase
    Gene namesi
    Name:BDH1
    Synonyms:BDH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:1027. BDH1.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: Ensembl
    2. mitochondrial matrix Source: Reactome
    3. mitochondrion Source: HPA
    4. nucleus Source: HPA

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25331.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4646MitochondrionBy similarityAdd
    BLAST
    Chaini47 – 343297D-beta-hydroxybutyrate dehydrogenase, mitochondrialPRO_0000031960Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei73 – 731N6-acetyllysineBy similarity
    Modified residuei97 – 971N6-acetyllysineBy similarity
    Modified residuei132 – 1321N6-acetyllysineBy similarity
    Modified residuei177 – 1771N6-acetyllysineBy similarity
    Modified residuei212 – 2121N6-acetyllysineBy similarity
    Glycosylationi219 – 2191O-linked (GlcNAc)By similarity
    Modified residuei258 – 2581N6-acetyllysineBy similarity
    Modified residuei259 – 2591N6-acetyllysine; alternateBy similarity
    Modified residuei259 – 2591N6-succinyllysine; alternateBy similarity
    Modified residuei280 – 2801N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation, Glycoprotein

    Proteomic databases

    MaxQBiQ02338.
    PaxDbiQ02338.
    PeptideAtlasiQ02338.
    PRIDEiQ02338.

    PTM databases

    PhosphoSiteiQ02338.

    Expressioni

    Gene expression databases

    ArrayExpressiQ02338.
    BgeeiQ02338.
    CleanExiHS_BDH1.
    GenevestigatoriQ02338.

    Organism-specific databases

    HPAiHPA030947.

    Interactioni

    Subunit structurei

    Homotetramer.

    Protein-protein interaction databases

    BioGridi107091. 3 interactions.
    IntActiQ02338. 2 interactions.
    STRINGi9606.ENSP00000350914.

    Structurei

    3D structure databases

    ProteinModelPortaliQ02338.
    SMRiQ02338. Positions 58-328.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG1028.
    HOVERGENiHBG005482.
    InParanoidiQ02338.
    KOiK00019.
    OMAiCDRENGA.
    OrthoDBiEOG7FXZZX.
    PhylomeDBiQ02338.
    TreeFamiTF325617.

    Family and domain databases

    Gene3Di3.40.50.720. 1 hit.
    InterProiIPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    IPR020904. Sc_DH/Rdtase_CS.
    [Graphical view]
    PfamiPF00106. adh_short. 1 hit.
    [Graphical view]
    PRINTSiPR00081. GDHRDH.
    PR00080. SDRFAMILY.
    PROSITEiPS00061. ADH_SHORT. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q02338-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLATRLSRPL SRLPGKTLSA CDRENGARRP LLLGSTSFIP IGRRTYASAA    50
    EPVGSKAVLV TGCDSGFGFS LAKHLHSKGF LVFAGCLMKD KGHDGVKELD 100
    SLNSDRLRTV QLNVCSSEEV EKVVEIVRSS LKDPEKGMWG LVNNAGISTF 150
    GEVEFTSLET YKQVAEVNLW GTVRMTKSFL PLIRRAKGRV VNISSMLGRM 200
    ANPARSPYCI TKFGVEAFSD CLRYEMYPLG VKVSVVEPGN FIAATSLYSP 250
    ESIQAIAKKM WEELPEVVRK DYGKKYFDEK IAKMETYCSS GSTDTSPVID 300
    AVTHALTATT PYTRYHPMDY YWWLRMQIMT HLPGAISDMI YIR 343
    Length:343
    Mass (Da):38,157
    Last modified:November 15, 2002 - v3
    Checksum:iB8AA1148111ACA8F
    GO

    Sequence cautioni

    The sequence AAA58352.1 differs from that shown. Reason: Frameshift at positions 124 and 134.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti70 – 701S → A in AAH11964. (PubMed:15489334)Curated
    Sequence conflicti115 – 1162CS → FR in AAA58352. (PubMed:1639787)Curated
    Sequence conflicti249 – 2491S → N in AAA58352. (PubMed:1639787)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M93107 mRNA. Translation: AAA58352.1. Frameshift.
    CH471191 Genomic DNA. Translation: EAW53606.1.
    CH471191 Genomic DNA. Translation: EAW53607.1.
    CH471191 Genomic DNA. Translation: EAW53608.1.
    CH471191 Genomic DNA. Translation: EAW53609.1.
    BC005844 mRNA. Translation: AAH05844.1.
    BC011964 mRNA. Translation: AAH11964.1.
    BC019317 mRNA. Translation: AAH19317.1.
    CCDSiCCDS3328.1.
    PIRiA42845.
    RefSeqiNP_004042.1. NM_004051.4.
    NP_976059.1. NM_203314.2.
    NP_976060.1. NM_203315.2.
    XP_005269409.1. XM_005269352.1.
    UniGeneiHs.274539.

    Genome annotation databases

    EnsembliENST00000358186; ENSP00000350914; ENSG00000161267.
    ENST00000392378; ENSP00000376183; ENSG00000161267.
    ENST00000392379; ENSP00000376184; ENSG00000161267.
    GeneIDi622.
    KEGGihsa:622.
    UCSCiuc003fxr.3. human.

    Polymorphism databases

    DMDMi25108876.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M93107 mRNA. Translation: AAA58352.1 . Frameshift.
    CH471191 Genomic DNA. Translation: EAW53606.1 .
    CH471191 Genomic DNA. Translation: EAW53607.1 .
    CH471191 Genomic DNA. Translation: EAW53608.1 .
    CH471191 Genomic DNA. Translation: EAW53609.1 .
    BC005844 mRNA. Translation: AAH05844.1 .
    BC011964 mRNA. Translation: AAH11964.1 .
    BC019317 mRNA. Translation: AAH19317.1 .
    CCDSi CCDS3328.1.
    PIRi A42845.
    RefSeqi NP_004042.1. NM_004051.4.
    NP_976059.1. NM_203314.2.
    NP_976060.1. NM_203315.2.
    XP_005269409.1. XM_005269352.1.
    UniGenei Hs.274539.

    3D structure databases

    ProteinModelPortali Q02338.
    SMRi Q02338. Positions 58-328.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107091. 3 interactions.
    IntActi Q02338. 2 interactions.
    STRINGi 9606.ENSP00000350914.

    Chemistry

    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei Q02338.

    Polymorphism databases

    DMDMi 25108876.

    Proteomic databases

    MaxQBi Q02338.
    PaxDbi Q02338.
    PeptideAtlasi Q02338.
    PRIDEi Q02338.

    Protocols and materials databases

    DNASUi 622.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000358186 ; ENSP00000350914 ; ENSG00000161267 .
    ENST00000392378 ; ENSP00000376183 ; ENSG00000161267 .
    ENST00000392379 ; ENSP00000376184 ; ENSG00000161267 .
    GeneIDi 622.
    KEGGi hsa:622.
    UCSCi uc003fxr.3. human.

    Organism-specific databases

    CTDi 622.
    GeneCardsi GC03M197236.
    HGNCi HGNC:1027. BDH1.
    HPAi HPA030947.
    MIMi 603063. gene.
    neXtProti NX_Q02338.
    PharmGKBi PA25331.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1028.
    HOVERGENi HBG005482.
    InParanoidi Q02338.
    KOi K00019.
    OMAi CDRENGA.
    OrthoDBi EOG7FXZZX.
    PhylomeDBi Q02338.
    TreeFami TF325617.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS08579-MONOMER.
    Reactomei REACT_1464. Synthesis of Ketone Bodies.
    REACT_59. Utilization of Ketone Bodies.

    Miscellaneous databases

    ChiTaRSi BDH1. human.
    GeneWikii BDH1.
    GenomeRNAii 622.
    NextBioi 2510.
    PROi Q02338.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q02338.
    Bgeei Q02338.
    CleanExi HS_BDH1.
    Genevestigatori Q02338.

    Family and domain databases

    Gene3Di 3.40.50.720. 1 hit.
    InterProi IPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    IPR020904. Sc_DH/Rdtase_CS.
    [Graphical view ]
    Pfami PF00106. adh_short. 1 hit.
    [Graphical view ]
    PRINTSi PR00081. GDHRDH.
    PR00080. SDRFAMILY.
    PROSITEi PS00061. ADH_SHORT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart."
      Marks A.R., McIntyre J.O., Duncan T.M., Erdjument-Bromage H., Tempst P., Fleischer S.
      J. Biol. Chem. 267:15459-15463(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Heart.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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: Lung and Ovary.

    Entry informationi

    Entry nameiBDH_HUMAN
    AccessioniPrimary (citable) accession number: Q02338
    Secondary accession number(s): D3DXC0, Q96ET1, Q9BRZ4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: November 15, 2002
    Last modified: October 1, 2014
    This is version 140 of the entry and version 3 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

    Allosteric enzyme, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3