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Aliases for BDH1 Gene

Aliases for BDH1 Gene

  • 3-Hydroxybutyrate Dehydrogenase, Type 1 2 3 5
  • 3-Hydroxybutyrate Dehydrogenase (Heart, Mitochondrial) 2 3
  • Short Chain Dehydrogenase/Reductase Family 9C Member 1 3 4
  • EC 1.1.1.30 4 63
  • SDR9C1 3 4
  • BDH 3 4
  • Short Chain Dehydrogenase/Reductase Family 9C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 9C 2
  • (R)-3-Hydroxybutyrate Dehydrogenase 3
  • 3-Hydroxybutyrate Dehydrogenase 4
  • Member 1 2
  • EC 1.1.1 63

External Ids for BDH1 Gene

Previous HGNC Symbols for BDH1 Gene

  • BDH

Previous GeneCards Identifiers for BDH1 Gene

  • GC03M198727
  • GC03M197236
  • GC03M194539
  • GC03M197510
  • GC03M197512

Summaries for BDH1 Gene

Entrez Gene Summary for BDH1 Gene

  • 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]

GeneCards Summary for BDH1 Gene

BDH1 (3-Hydroxybutyrate Dehydrogenase, Type 1) is a Protein Coding gene. Diseases associated with BDH1 include chromosome 3q29 microduplication syndrome. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include oxidoreductase activity and 3-hydroxybutyrate dehydrogenase activity. An important paralog of this gene is HSD11B2.

Gene Wiki entry for BDH1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BDH1 Gene

Genomics for BDH1 Gene

Regulatory Elements for BDH1 Gene

Promoters for BDH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BDH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BDH1 Gene

Chromosome:
3
Start:
197,509,783 bp from pter
End:
197,573,323 bp from pter
Size:
63,541 bases
Orientation:
Minus strand

Genomic View for BDH1 Gene

Genes around BDH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BDH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BDH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BDH1 Gene

Proteins for BDH1 Gene

  • Protein details for BDH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02338-BDH_HUMAN
    Recommended name:
    D-beta-hydroxybutyrate dehydrogenase, mitochondrial
    Protein Accession:
    Q02338
    Secondary Accessions:
    • D3DXC0
    • Q96ET1
    • Q9BRZ4

    Protein attributes for BDH1 Gene

    Size:
    343 amino acids
    Molecular mass:
    38157 Da
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=AAA58352.1; Type=Frameshift; Positions=124, 134; Evidence={ECO:0000305};

neXtProt entry for BDH1 Gene

Proteomics data for BDH1 Gene at MOPED

Selected DME Specific Peptides for BDH1 Gene

Post-translational modifications for BDH1 Gene

  • Glycosylation at Ser 219
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for BDH1 Gene

Gene Families for BDH1 Gene

Protein Domains for BDH1 Gene

Suggested Antigen Peptide Sequences for BDH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02338

UniProtKB/Swiss-Prot:

BDH_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with BDH1: view

Function for BDH1 Gene

Molecular function for BDH1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(R)-3-hydroxybutanoate + NAD(+) = acetoacetate + NADH.
UniProtKB/Swiss-Prot EnzymeRegulation:
Requires phosphatidylcholine as an allosteric activator for enzymatic activity.

Enzyme Numbers (IUBMB) for BDH1 Gene

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BDH1 Gene

Localization for BDH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BDH1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BDH1 Gene COMPARTMENTS Subcellular localization image for BDH1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for BDH1 Gene

Pathways & Interactions for BDH1 Gene

genes like me logo Genes that share pathways with BDH1: view

Gene Ontology (GO) - Biological Process for BDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0007584 response to nutrient IEA --
GO:0032355 response to estradiol IEA --
GO:0042493 response to drug IEA --
GO:0042594 response to starvation IEA --
genes like me logo Genes that share ontologies with BDH1: view

No data available for SIGNOR curated interactions for BDH1 Gene

Drugs & Compounds for BDH1 Gene

(3) Drugs for BDH1 Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetoacetic acid Experimental Pharma 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(12) Additional Compounds for BDH1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(R)-3-Hydroxybutyric acid
  • (R)-(-)-b-Hydroxybutyrate
  • (R)-(-)-b-Hydroxybutyric acid
  • (R)-(-)-beta-Hydroxybutyrate
  • (R)-(-)-beta-Hydroxybutyric acid
  • (R)-3-Hydroxybutanoate
625-72-9
3-Hydroxybutyric acid
  • 3-Hydroxy-butanoate
  • 3-Hydroxy-butanoic acid
  • 3-Hydroxy-butyrate
  • 3-Hydroxy-butyric acid
  • 3-Hydroxybutanoate
300-85-6
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
PC(18:1(9Z)e/2:0)
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Phosphatidylcholines Group A
  • (R)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxohexadecyl)oxy]-3,5,9-Trioxa-4-phosphapentacosan-1-aminium 4-oxide hydroxide inner salt
  • (R)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxohexadecyl)oxy]-3,5,9-Trioxa-4-phosphapentacosan-1-aminium 4-oxide inner salt
  • 1,2-Bis(hexadecanoyl)-sn-glycero-3-phosphocholine
  • 1,2-Bis(palmitoyl)-sn-glycero-3-phosphocholine
  • 1,2-Dihexadecanoyl-sn-glycerol-3-phosphorylcholine
63-89-8, 68737-67-7
genes like me logo Genes that share compounds with BDH1: view

Transcripts for BDH1 Gene

Unigene Clusters for BDH1 Gene

3-hydroxybutyrate dehydrogenase, type 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BDH1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - -
SP8:
SP9:
SP10:

Relevant External Links for BDH1 Gene

GeneLoc Exon Structure for
BDH1
ECgene alternative splicing isoforms for
BDH1

Expression for BDH1 Gene

mRNA expression in normal human tissues for BDH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BDH1 Gene

This gene is overexpressed in Liver (x9.3).

Protein differential expression in normal tissues from HIPED for BDH1 Gene

This gene is overexpressed in Gallbladder (18.9), Liver (16.5), and Nasal epithelium (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BDH1 Gene



SOURCE GeneReport for Unigene cluster for BDH1 Gene Hs.274539

genes like me logo Genes that share expression patterns with BDH1: view

Protein tissue co-expression partners for BDH1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for BDH1 Gene

Orthologs for BDH1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BDH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BDH1 35
  • 99.68 (n)
  • 99.37 (a)
BDH1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BDH1 36
  • 84 (a)
OneToOne
BDH1 35
  • 87.13 (n)
  • 84.5 (a)
dog
(Canis familiaris)
Mammalia BDH1 35
  • 86.16 (n)
  • 84.03 (a)
BDH1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bdh1 16
Bdh1 35
  • 86.35 (n)
  • 85.96 (a)
Bdh1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BDH1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BDH1 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bdh1 35
  • 86.06 (n)
  • 86.84 (a)
chicken
(Gallus gallus)
Aves BDH1 36
  • 70 (a)
OneToOne
BDH1 35
  • 74.36 (n)
  • 71.01 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 66 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bdh1 35
  • 74.61 (n)
  • 80.79 (a)
Str.11989 35
zebrafish
(Danio rerio)
Actinopterygii bdh1 36
  • 50 (a)
OneToOne
bdh1 35
  • 65.62 (n)
  • 62.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8888 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dhs-16 36
  • 26 (a)
OneToMany
F55E10.6 36
  • 28 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LYS2 36
  • 5 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for BDH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BDH1 Gene

ENSEMBL:
Gene Tree for BDH1 (if available)
TreeFam:
Gene Tree for BDH1 (if available)

Paralogs for BDH1 Gene

Paralogs for BDH1 Gene

genes like me logo Genes that share paralogs with BDH1: view

Variants for BDH1 Gene

Sequence variations from dbSNP and Humsavar for BDH1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs2483 -- 197,541,701(+) CCTAG(C/G)CTCAC intron-variant
rs2484 -- 197,541,698(+) TTGCC(C/T)AGCCT intron-variant
rs8078 -- 197,511,693(-) AGTGG(A/C)AGGCA utr-variant-3-prime
rs1062166 -- 197,541,806(-) TTTTT(C/T)TTTTC intron-variant
rs2082268 -- 197,534,892(-) ATTTT(G/T)TTATA intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for BDH1 Gene

Variant ID Type Subtype PubMed ID
nsv878196 CNV Gain 21882294
dgv1558e1 CNV Complex 17122850
dgv635n27 CNV Gain 19166990
nsv471149 CNV Gain 18288195
nsv461136 CNV Gain 19166990
dgv5377n71 CNV Gain 21882294
nsv508982 CNV Insertion 20534489
dgv1559e1 CNV Complex 17122850
dgv1560e1 CNV Complex 17122850
nsv428433 CNV Gain+Loss 18775914
esv2726655 CNV Deletion 23290073
nsv10399 CNV Gain 18304495
esv29640 CNV Loss 19812545
esv2726656 CNV Deletion 23290073
esv1013303 CNV Deletion 17803354
esv1109840 CNV Deletion 17803354
esv1436400 CNV Deletion 17803354
esv1448451 CNV Deletion 17803354
nsv878203 CNV Gain 21882294
nsv878204 CNV Gain 21882294
essv11975 CNV CNV 17122850
dgv1561e1 CNV Complex 17122850
nsv507146 CNV Insertion 20534489
essv9861 CNV CNV 17122850

Variation tolerance for BDH1 Gene

Residual Variation Intolerance Score: 54.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BDH1 Gene

HapMap Linkage Disequilibrium report
BDH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BDH1 Gene

Disorders for BDH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BDH1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 3q29 microduplication syndrome
  • 3q29 microduplication
- elite association - COSMIC cancer census association via MalaCards
Search BDH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BDH1

Genetic Association Database (GAD)
BDH1
Human Genome Epidemiology (HuGE) Navigator
BDH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BDH1
genes like me logo Genes that share disorders with BDH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BDH1 Gene

Publications for BDH1 Gene

  1. Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart. (PMID: 1639787) Marks A.R. … Fleischer S. (J. Biol. Chem. 1992) 2 3 4 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. Phosphatidylcholine activation of human heart (R)-3-hydroxybutyrate dehydrogenase mutants lacking active center sulfhydryls: site-directed mutagenesis of a new recombinant fusion protein. (PMID: 10933785) Chelius D. … Trommer W.E. (Biochemistry 2000) 3 23
  4. (R)-3-hydroxybutyrate dehydrogenase: selective phosphatidylcholine binding by the C-terminal domain. (PMID: 11009606) Loeb-Hennard C. … McIntyre J.O. (Biochemistry 2000) 3 23
  5. Wild type and mutant human heart (R)-3-hydroxybutyrate dehydrogenase expressed in insect cells. (PMID: 8679568) Green D. … McIntyre J.O. (Biochemistry 1996) 3 23

Products for BDH1 Gene

Sources for BDH1 Gene

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