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

Gene ID: 622, updated on 8-Dec-2022

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; AllianceGenome:HGNC:1027
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
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Genomic context

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See BDH1 in Genome Data Viewer
Location:
3q29
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (197509783..197573343, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (200242414..200305987, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (197236654..197300214, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:197216831-197217376 and GRCh37_chr3:197217377-197217922 Neighboring gene Sharpr-MPRA regulatory region 5776 Neighboring gene long intergenic non-protein coding RNA 2012 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:197268447-197269042 Neighboring gene ribosomal protein L36 pseudogene 7 Neighboring gene SDHA pseudogene 4

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. Expression and clinical significance of BDH1 in liver cancer. Liu Z, et al. Medicine (Baltimore), 2021 Dec 3. PMID 35049211, Free PMC Article
  2. (R)-3-hydroxybutyrate dehydrogenase: selective phosphatidylcholine binding by the C-terminal domain. Loeb-Hennard C, et al. Biochemistry, 2000 Oct 3. PMID 11009606
  3. 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
  4. 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
  5. 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

See all (38) 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. MTA2 triggered R-loop trans-regulates BDH1-mediated beta-hydroxybutyrylation and potentiates propagation of hepatocellular carcinoma stem cells.
    Title: MTA2 triggered R-loop trans-regulates BDH1-mediated β-hydroxybutyrylation and potentiates propagation of hepatocellular carcinoma stem cells.
  2. Expression and clinical significance of BDH1 in liver cancer.
    Title: Expression and clinical significance of BDH1 in liver cancer.
  3. 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.
  4. 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
enables 3-hydroxybutyrate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables 3-hydroxybutyrate dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in matrix side of mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion 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_011511369.1
XP_016862504.1
XP_047304635.1
XP_047304636.1
XP_047304637.1
XP_047304638.1

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, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
    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, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
    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_203315.3 → 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, AC132008, AV645953, BC005844, H80183
    Consensus CDS
    CCDS3328.1
    UniProtKB/Swiss-Prot
    Q02338, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    197509783..197573343 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448679.1 → XP_047304635.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4

  2. XM_047448680.1 → XP_047304636.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4

  3. XM_005269352.4 → 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, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
    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

  4. XM_047448682.1 → XP_047304638.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X4

    UniProtKB/TrEMBL
    E9PCG9
    Related
    ENSP00000411014.1, ENST00000441275.5

  5. XM_047448681.1 → XP_047304637.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X3

  6. XM_011513067.4 → 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

  7. XM_017007015.2 → XP_016862504.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X5

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

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187534.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    2915..49100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    200242414..200305987 complement
    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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