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    BDH1 3-hydroxybutyrate dehydrogenase 1 [ Homo sapiens (human) ]

    Gene ID: 622, updated on 15-Apr-2019

    Summary

    Official Symbol
    BDH1provided by HGNC
    Official Full Name
    3-hydroxybutyrate dehydrogenase 1provided by HGNC
    Primary source
    HGNC:HGNC:1027
    See related
    Ensembl:ENSG00000161267 MIM:603063
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BDH; SDR9C1
    Summary
    This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in liver (RPKM 11.8), colon (RPKM 4.8) and 19 other tissues See more
    Orthologs

    Genomic context

    See BDH1 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (197509783..197573323, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (197236654..197300194, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374309 Neighboring gene long intergenic non-protein coding RNA 2012 Neighboring gene Sharpr-MPRA regulatory regions 4170 and 8020 Neighboring gene ribosomal protein L36 pseudogene 7 Neighboring gene succinate dehydrogenase complex flavoprotein subunit A pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC2723, MGC4347, MGC9788

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-hydroxybutyrate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    ketone body biosynthetic process TAS
    Traceable Author Statement
    more info
     
    ketone body catabolic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    matrix side of mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    D-beta-hydroxybutyrate dehydrogenase, mitochondrial
    Names
    (R)-3-hydroxybutyrate dehydrogenase
    3-hydroxybutyrate dehydrogenase (heart, mitochondrial)
    3-hydroxybutyrate dehydrogenase, type 1
    epididymis secretory sperm binding protein
    short chain dehydrogenase/reductase family 9C member 1
    NP_004042.1
    NP_976059.1
    NP_976060.1
    XP_005269409.1
    XP_005269412.1
    XP_011511369.1
    XP_016862496.1
    XP_016862497.1
    XP_016862498.1
    XP_016862499.1
    XP_016862500.1
    XP_016862501.1
    XP_016862502.1
    XP_016862504.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004051.4NP_004042.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_004042.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC128709, BC005844
      Consensus CDS
      CCDS3328.1
      UniProtKB/Swiss-Prot
      Q02338
      Related
      ENSP00000376183.2, ENST00000392378.6
      Conserved Domains (1) summary
      cd09805
      Location:56341
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
    2. NM_203314.3NP_976059.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_976059.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an additional exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC128709, BC005844
      Consensus CDS
      CCDS3328.1
      UniProtKB/Swiss-Prot
      Q02338
      Related
      ENSP00000376184.1, ENST00000392379.6
      Conserved Domains (1) summary
      cd09805
      Location:56341
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
    3. NM_203315.2NP_976060.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_976060.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC128709, AV645953, BC005844, H80183
      Consensus CDS
      CCDS3328.1
      UniProtKB/Swiss-Prot
      Q02338
      Related
      ENSP00000350914.2, ENST00000358186.6
      Conserved Domains (1) summary
      cd09805
      Location:56341
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      197509783..197573323 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269352.3XP_005269409.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_005269409.1

      UniProtKB/Swiss-Prot
      Q02338
      Conserved Domains (1) summary
      cd09805
      Location:56341
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
    2. XM_017007007.1XP_016862496.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      Q02338
      Conserved Domains (1) summary
      cd09805
      Location:56341
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
    3. XM_017007010.2XP_016862499.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X4

      Conserved Domains (2) summary
      cd09805
      Location:37322
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
      pfam00106
      Location:37222
      adh_short; short chain dehydrogenase
    4. XM_017007009.2XP_016862498.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X4

      Conserved Domains (2) summary
      cd09805
      Location:37322
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
      pfam00106
      Location:37222
      adh_short; short chain dehydrogenase
    5. XM_017007012.1XP_016862501.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X3

    6. XM_017007011.1XP_016862500.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X3

    7. XM_017007008.2XP_016862497.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X3

    8. XM_017007015.1XP_016862504.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X6

      Conserved Domains (1) summary
      cl21454
      Location:1204
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    9. XM_005269355.4XP_005269412.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X6

      Conserved Domains (1) summary
      cl21454
      Location:1204
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    10. XM_011513067.3XP_011511369.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X1

      Conserved Domains (2) summary
      cd09805
      Location:60345
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
      pfam00106
      Location:60245
      adh_short; short chain dehydrogenase
    11. XM_017007013.1XP_016862502.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X5

    RNA

    1. XR_001740229.1 RNA Sequence

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NT_187534.1 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      2896..49100
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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