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

Gene ID: 622, updated on 21-Dec-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
109.20191205 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

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 Functions

What's a GeneRIF?

Pathways from PubChem

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_004051.5NP_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
    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 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_005269352.3XP_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.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)
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