U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 622, updated on 5-Jul-2025
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
NEW
Try the new Gene table
Try the new Transcript table
See BDH1 in Genome Data Viewer
Location:
3q29
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (197509783..197573343, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (200242414..200306032, complement)
RS_2024_09 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 uncharacterized LOC105374309 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:197205169-197206368 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:197216831-197217376 and GRCh37_chr3:197217377-197217922 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:197229162-197229325 Neighboring gene Sharpr-MPRA regulatory region 5776 Neighboring gene long intergenic non-protein coding RNA 2012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:197238623-197239160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:197247683-197248388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:197248389-197249094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:197250741-197251240 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:197268447-197269042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:197269043-197269636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21111 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:197303211-197303712 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:197306909-197307455 Neighboring gene ribosomal protein L36 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15088 Neighboring gene SDHA pseudogene 4

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

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
 
enables 3-hydroxybutyrate dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables 3-hydroxybutyrate dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in matrix side of mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
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
XP_054203450.1
XP_054203451.1
XP_054203452.1
XP_054203453.1
XP_054203454.1
XP_054203455.1

NEW Try the new Transcript table

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_004051.5NP_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
    D3DXC0, Q02338, Q96ET1, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
    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
    D3DXC0, Q02338, Q96ET1, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
    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_203315.3NP_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
    D3DXC0, Q02338, Q96ET1, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
    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: GCF_000001405.40-RS_2024_08

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_047448679.1XP_047304635.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    D3DXC0, Q02338, Q96ET1, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
  2. XM_047448680.1XP_047304636.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    D3DXC0, Q02338, Q96ET1, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
  3. XM_005269352.4XP_005269409.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_005269409.1

    UniProtKB/Swiss-Prot
    D3DXC0, Q02338, Q96ET1, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
    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
  4. XM_047448682.1XP_047304638.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X4

    UniProtKB/TrEMBL
    E9PCG9
    Related
    ENSP00000411014.1, ENST00000441275.5
  5. XM_047448681.1XP_047304637.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X3

  6. XM_011513067.4XP_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
  7. XM_017007015.2XP_016862504.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X5

    Conserved Domains (1) summary
    cl21454
    Location:1204
    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..200306032 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347477.1XP_054203452.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    D3DXC0, Q02338, Q96ET1, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
  2. XM_054347476.1XP_054203451.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    D3DXC0, Q02338, Q96ET1, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
  3. XM_054347478.1XP_054203453.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    D3DXC0, Q02338, Q96ET1, Q9BRZ4
    UniProtKB/TrEMBL
    A0A384MTY4
  4. XM_054347479.1XP_054203454.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X3

  5. XM_054347475.1XP_054203450.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X1

  6. XM_054347480.1XP_054203455.1  D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X5