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

Gene ID: 622, updated on 21-Dec-2019

Summary

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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
mouse all

Genomic context

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See BDH1 in Genome Data Viewer
Location:
3q29
Exon count:
19
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. (R)-3-hydroxybutyrate dehydrogenase: selective phosphatidylcholine binding by the C-terminal domain. Loeb-Hennard C, et al. Biochemistry, 2000 Oct 3. PMID 11009606
  2. Phosphatidylcholine activation of human heart (R)-3-hydroxybutyrate dehydrogenase mutants lacking active center sulfhydryls: site-directed mutagenesis of a new recombinant fusion protein. Chelius D, et al. Biochemistry, 2000 Aug 15. PMID 10933785
  3. Purification and characterization of a (R)-3-hydroxybutyrate dehydrogenase deletion mutant. Evidence for C-terminal involvement in enzyme activation by lecithin. Langston HP, et al. Arch Biochem Biophys, 1996 Mar 1. PMID 8615695
  4. Monoclonal antibodies for structure-function studies of (R)-3-hydroxybutyrate dehydrogenase, a lipid-dependent membrane-bound enzyme. Adami P, et al. Biochem J, 1993 Jun 15. PMID 7686368, Free PMC Article
  5. Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart. Marks AR, et al. J Biol Chem, 1992 Aug 5. PMID 1639787

See all (26) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data show that the ketone body metabolizing enzymes BDH1, BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level in all glioma cell lines.
    Title: Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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_004051.5 → NP_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:56 → 341
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

  2. NM_203314.3 → NP_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:56 → 341
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

  3. NM_203315.2 → NP_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:56 → 341
    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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005269352.3 → XP_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:56 → 341
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

  2. XM_017007007.1 → XP_016862496.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q02338
    Conserved Domains (1) summary
    cd09805
    Location:56 → 341
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

  3. XM_017007010.2 → XP_016862499.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X4

    Conserved Domains (2) summary
    cd09805
    Location:37 → 322
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
    pfam00106
    Location:37 → 222
    adh_short; short chain dehydrogenase

  4. XM_017007009.2 → XP_016862498.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X4

    Conserved Domains (2) summary
    cd09805
    Location:37 → 322
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
    pfam00106
    Location:37 → 222
    adh_short; short chain dehydrogenase

  5. XM_017007012.1 → XP_016862501.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X3

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

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

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

    Conserved Domains (1) summary
    cl21454
    Location:1 → 204
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  9. XM_005269355.4 → XP_005269412.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X6

    Conserved Domains (1) summary
    cl21454
    Location:1 → 204
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  10. XM_011513067.3 → XP_011511369.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X1

    Conserved Domains (2) summary
    cd09805
    Location:60 → 345
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
    pfam00106
    Location:60 → 245
    adh_short; short chain dehydrogenase

  11. XM_017007013.1 → XP_016862502.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X5

RNA

  1. XR_001740229.1 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187534.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    2915..49100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02338.3 GenPept UniProtKB/Swiss-Prot:Q02338

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