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BDH1 Gene

protein-coding   GIFtS: 62
GCID: GC03M197236

3-Hydroxybutyrate Dehydrogenase, Type 1

(Previous names: 3-hydroxybutyrate dehydrogenase (heart, mitochondrial))
(Previous symbol: BDH)
  See BDH1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
3-Hydroxybutyrate Dehydrogenase, Type 11 2     (R)-3-Hydroxybutyrate Dehydrogenase2
BDH1 2 3 5     SDR9C12
3-Hydroxybutyrate Dehydrogenase (Heart, Mitochondrial)1 2     D-Beta-Hydroxybutyrate Dehydrogenase, Mitochondrial2
EC 1.1.1.303 8     Short Chain Dehydrogenase/Reductase Family 9C, Member 12
Member 11     3-Hydroxybutyrate Dehydrogenase3
Short Chain Dehydrogenase/Reductase Family 9C1     EC 1.1.18

External Ids:    HGNC: 10271   Entrez Gene: 6222   Ensembl: ENSG000001612677   OMIM: 6030635   UniProtKB: Q023383   

Export aliases for BDH1 gene to outside databases

Previous GC identifers: GC03M198727 GC03M194539


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 bile duct adenoma. GO annotations related to this gene include phospholipid binding and 3-hydroxybutyrate dehydrogenase activity. An important paralog of this gene is SDR9C7.

Gene Wiki entry for BDH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  NT_187534.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the BDH1 gene promoter:
         AREB6   CREB   Pax-5   Meis-1a   NF-kappaB1   Meis-1b   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BDH1 promoter sequence
   Search Chromatin IP Primers for BDH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BDH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

BDH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BDH1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M197236:  view genomic region     (about GC identifiers)

Start:
197,236,654 bp from pter      End:
197,300,194 bp from pter
Size:
63,541 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BDH_HUMAN, Q02338 (See protein sequence)
Recommended Name: D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor  
Size: 343 amino acids; 38157 Da
Subunit: Homotetramer
Sequence caution: Sequence=AAA58352.1; Type=Frameshift; Positions=124, 134;
Secondary accessions: D3DXC0 Q96ET1 Q9BRZ4

Explore the universe of human proteins at neXtProt for BDH1: NX_Q02338

Explore proteomics data for BDH1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BDH1 (Q02338) (see all 7)
     GVEAFSD  GLVNNAG  TGCDSGFG  VEPGNFIA 


    See BDH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_004042.1  NP_976059.1  NP_976060.1  

    ENSEMBL proteins: 
     ENSP00000376183   ENSP00000411014   ENSP00000387648   ENSP00000408016   ENSP00000408685  
     ENSP00000409849   ENSP00000396149   ENSP00000405462   ENSP00000350914   ENSP00000376184  
    Reactome Protein details: Q02338

    BDH1 Human Recombinant Protein Products:

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    Novus Biologicals BDH1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for BDH1
    Cloud-Clone Corp. Proteins for BDH1

     
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    antibodies-online proteins for BDH1 (13 products) 

     
    Search antibodies-online for peptides for BDH1

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    antibodies-online antibodies for BDH1 (40 products) 

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    antibodies-online kits for BDH1 (7 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRC2: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2

    4 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q02338

    ProtoNet protein and cluster: Q02338

    1 Blocks protein domain: IPB002198 Short-chain dehydrogenase/reductase SDR

    UniProtKB/Swiss-Prot: BDH_HUMAN, Q02338
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    Find genes that share domains with BDH1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BDH_HUMAN, Q02338
    Catalytic activity: (R)-3-hydroxybutanoate + NAD(+) = acetoacetate + NADH
    Enzyme regulation: Requires phosphatidylcholine as an allosteric activator for enzymatic activity

         Enzyme Numbers (IUBMB): EC 1.1.1.301 2 EC 1.1.12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038583-hydroxybutyrate dehydrogenase activity TAS--
    GO:0005543phospholipid binding IEA--
    GO:0016491oxidoreductase activity ----
         
    Find genes that share ontologies with BDH1           About GenesLikeMe


    Animal Models:
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate BDH1 (see all 12):
    hsa-miR-125a-5p hsa-miR-3611 hsa-miR-4297 hsa-miR-29c hsa-miR-29a hsa-miR-221* hsa-miR-125b hsa-miR-593*
    SwitchGear 3'UTR luciferase reporter plasmidBDH1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BDH1

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    Sino Biological Human cDNA Clone for BDH1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BDH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BDH_HUMAN, Q02338: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus4
    cytosol1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with BDH1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BDH1 About    
    See pathways by source

    SuperPathContained pathways About
    1Synthesis and Degradation of Ketone Bodies
    Synthesis and Degradation of Ketone Bodies0.43
    Ketone body metabolism0.00
    ketolysis0.43
    Synthesis of Ketone Bodies0.00
    Utilization of Ketone Bodies0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    ketogenesis0.00
    4Butanoate metabolism
    Butanoate metabolism
    Synthesis and degradation of ketone bodies0.00
    5FOXA2 and FOXA3 transcription factor networks
    FOXA2 and FOXA3 transcription factor networks


    Find genes that share SuperPaths with BDH1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for BDH1
        Synthesis and Degradation of Ketone Bodies
    ketogenesis
    ketolysis
    FOXA2 and FOXA3 transcription factor networks


    2 Reactome Pathways for BDH1
        Synthesis of Ketone Bodies
    Utilization of Ketone Bodies


    3 Kegg Pathways  (Kegg details for BDH1):
        Synthesis and degradation of ketone bodies
    Butanoate metabolism
    Metabolic pathways

        Pathway & Disease-focused RT2 Profiler PCR Array including BDH1: 
              Fatty Acid Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BDH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BDH1 (Q023383 ENSP000003509144) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRID2O434243I2D: score=1 
    YWHABP319463I2D: score=1 
    AACSENSP000003248424STRING: ENSP00000324842
    HMGCLENSP000003636144STRING: ENSP00000363614
    OXCT1ENSP000001963714STRING: ENSP00000196371
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0007420brain development IEA--
    GO:0007584response to nutrient IEA--
    GO:0008152metabolic process ----
    GO:0009636response to toxic substance IEA--

    Find genes that share ontologies with BDH1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BDH1 (BDH)

    Selected HMDB Compounds for BDH1 (see all 1080)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (R)-3-Hydroxybutyric acid(R)-(-)-b-Hydroxybutyrate (see all 20)625-72-9--
    3-Hydroxybutyric acid3-OH-butyric acid (see all 27)300-85-6--
    Acetoacetic acid3-Ketobutyrate (see all 9)541-50-4--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    PC(14:0/14:0)Phosphatidylcholine(14:0/14:0) (see all 8)----
    PC(14:0/14:1(9Z))Phosphatidylcholine(14:0/14:1) (see all 14)----
    PC(14:0/15:0)GPCho(14:0/15:0) (see all 8)----
    PC(14:0/16:0)GPCho(30:0) (see all 8)----
    PC(14:0/16:1(9Z))1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine (see all 14)----

    1 DrugBank Compound for BDH1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 2550053 17016423 38961 8533882

    7 Novoseek inferred chemical compound relationships for BDH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    beta-hydroxybutyrate 89 63 8533882 (4), 19219638 (4), 10933785 (2), 8679568 (2) (see all 18)
    acetoacetate 83.2 5 8533882 (2), 10933785 (1), 11918279 (1)
    nadh 74.2 9 8533882 (4), 1883629 (1), 10933785 (1), 8679568 (1) (see all 5)
    nad+ 71.1 3 10933785 (1), 8679568 (1)
    phosphatidylcholine 37.8 12 10933785 (3), 11009606 (3), 8679568 (2)
    lipid 8.52 8 8679568 (3), 10933785 (2), 11009606 (2)
    glutamate 2.48 3 1883629 (1), 2363494 (1)



    Find genes that share compounds with BDH1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BDH1 gene (3 alternative transcripts): 
    NM_004051.4  NM_203314.2  NM_203315.2  

    Unigene Cluster for BDH1:

    3-hydroxybutyrate dehydrogenase, type 1
    Hs.274539  [show with all ESTs]
    Unigene Representative Sequence: NM_203314
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392378(uc003fxs.3) ENST00000441275 ENST00000479425 ENST00000446746
    ENST00000455876 ENST00000477015 ENST00000483920 ENST00000434143 ENST00000432819
    ENST00000495285 ENST00000431056 ENST00000445160 ENST00000468710 ENST00000492681
    ENST00000476764 ENST00000358186(uc003fxu.3) ENST00000392379(uc003fxr.3)

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    Selected qRT-PCR Assays for microRNAs that regulate BDH1 (see all 12):
    hsa-miR-125a-5p hsa-miR-3611 hsa-miR-4297 hsa-miR-29c hsa-miR-29a hsa-miR-221* hsa-miR-125b hsa-miR-593*
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat BDH1

    Additional mRNA sequence: 

    BC005844.2 BC011964.1 BC019317.1 EF095211.1 M93107.1 

    15 DOTS entries:

    DT.448224  DT.91764171  DT.86852233  DT.111383  DT.75140849  DT.91698432  DT.91989322  DT.99965673 
    DT.75103050  DT.95255916  DT.95355352  DT.97843976  DT.114817  DT.120846005  DT.91811188 

    Selected AceView cDNA sequences (see all 179):

    BX101019 BQ214207 CK431183 CR626354 BC005844 BF799614 BM726631 BQ897235 
    BP350309 BI767253 NM_203314 BI756191 BQ895997 BC011964 AA707038 H57358 
    BQ889655 BU902422 BC019317 BM681276 NM_004051 CR599815 CR611996 NM_203315 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BDH1 (see all 10)    About this scheme

    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:                                            -     -     -     -     -     -                 -     -     -     -                                             


    ECgene alternative splicing isoforms for BDH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BDH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAATCTAT
    BDH1 Expression
    About this image


    BDH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Kidney (Urinary System)
             Renal Collecting Duct System
    BDH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BDH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.274539
        Pathway & Disease-focused RT2 Profiler PCR Array including BDH1: 
              Fatty Acid Metabolism in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for BDH1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BDH1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bdh11 , 5 3-hydroxybutyrate dehydrogenase, type 11, 5 86.35(n)1
    85.96(a)1
      16 (21.74 cM)5
    719111  NM_175177.41  NP_780386.31 
     314222805 
    chicken
    (Gallus gallus)
    Aves BDH11 3-hydroxybutyrate dehydrogenase, type 1 74.36(n)
    71.01(a)
      424891  NM_001006547.1  NP_001006547.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    78(a)
    66(a)
    1 ↔ many
    1 ↔ many
    AAWZ02040337(165-3071)
    2(67864602-67865633)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.119892 Transcribed sequence with weak similarity to protein more 68.9(n)    BX712090.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bdh11 3-hydroxybutyrate dehydrogenase, type 1 65.62(n)
    62.02(a)
      100037356  NM_001089509.1  NP_001082978.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG88886
    --
    26(a)
    1 ↔ 1
    2R(7952070-7967048)
    worm
    (Caenorhabditis elegans)
    Secernentea F55E10.66
    dhs-166
    Protein DHS-16 (dhs-16) mRNA, complete cds
    28(a)
    26(a)
    1 ↔ many
    1 ↔ many
    X(8344700-8346359) WBGene00018885
    V(5983745-5985511) WBGene00000979
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LYS26
    Alpha aminoadipate reductase, catalyzes the reduct...
    5(a)
    1 → many
    II(469748-473926) YBR115C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BDH1 gene
    SDR9C72  DHRS92  HSD11B22  HSD17B62  HSD17B22  RDH162  RDH82  DHRS7B2  
    DHRS72  HSD17B12  KDSR2  DHRS7C2  RDH52  
    11 SIMAP similar genes for BDH1 using alignment to 8 protein entries:     BDH_HUMAN (see all proteins):
    HSD17B6    RDHL    DHRS9    DHRS7    SDR9C7    RDH16
    RDH5    HSD17B2    RDH8    HSD11B2    HSD17B1

    Find genes that share paralogs with BDH1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BDH1 (see all 1501)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs711642971,2
    C--197136493(+) AAAAA-/AAA   
       
    /AAAA
    GAAGA
    6 -- int1 cds11NA 2
    rs1399065371,2
    C--197236160(+) CTCCCA/GAGTAG 3 -- ds50010--------
    rs1849769981,2
    --197236179(+) ACAGGC/TGCCCA 3 -- ds50010--------
    rs25673691,2
    C,F,A--197236327(+) ACCGCA/GCCCGG 3 -- ds50015Minor allele frequency- G:0.19NA EA 246
    rs1146581921,2
    F--197236352(+) AAAGAC/TGAAAA 3 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1497897821,2
    --197236493(+) CAGAAA/CAACCT 3 -- ds50010--------
    rs1479066721,2
    --197236508(+) AGGCCG/TGCCCA 3 -- ds50010--------
    rs1889152581,2
    --197236585(+) TGATGA/GGGACC 3 -- ds50010--------
    rs1816833851,2
    --197236605(+) TGGCCC/TTCCTT 3 -- ds50010--------
    rs1156373431,2
    C,F--197236689(+) ACGGAC/AACAAA 3 -- ut311Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for BDH1 (197236654 - 197300194 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BDH1 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1013303CNV Deletion17803354
    esv1436400CNV Deletion17803354
    esv2726656CNV Deletion23290073
    esv2726655CNV Deletion23290073
    esv1109840CNV Deletion17803354
    esv1448451CNV Deletion17803354
    nsv508982CNV Insertion20534489
    nsv507146CNV Insertion20534489
    esv29640CNV Loss19812545
    nsv878204CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BDH1
    DNA2.0 Custom Variant and Variant Library Synthesis for BDH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603063    OMIM disorders: --

    1 disease for BDH1:    
    About MalaCards
    bile duct adenoma


    Find genes that share disorders with BDH1           About GenesLikeMe

    Genetic Association Database (GAD): BDH1
    Human Genome Epidemiology (HuGE) Navigator: BDH1 (3 documents)

    Export disorders for BDH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BDH1 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with BDH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart. (PubMed id 1639787)1, 2, 3 Marks A.R.... Fleischer S. (J. Biol. Chem. 1992)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Wild type and mutant human heart (R)-3-hydroxybutyrate dehydrogenase expressed in insect cells. (PubMed id 8679568)1, 9 Green D....McIntyre J.O. (Biochemistry 1996)
    6. Phosphatidylcholine activation of human heart (R)-3-hydroxybutyrate dehydrogenase mutants lacking active center sulfhydryls: site-directed mutagenesis of a new recombinant fusion protein. (PubMed id 10933785)1, 9 Chelius D....Trommer W.E. (Biochemistry 2000)
    7. A chemiluminescence-flow injection analysis of serum 3-hydroxybutyrate using a bioreactor consisting of 3-hydroxybutyrate dehydrogenase and NADH oxidase. (PubMed id 8533882)7, 9 Tabata M. and Totani M. (Anal. Biochem. 1995)
    8. (R)-3-hydroxybutyrate dehydrogenase: selective phosphatidylcholine binding by the C-terminal domain. (PubMed id 11009606)1, 9 Loeb-Hennard C. and McIntyre J.O. (Biochemistry 2000)
    9. The functional interactome landscape of the human histone deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (Mol. Syst. Biol. 2013)
    10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 622 HGNC: 1027 AceView: BDH Ensembl:ENSG00000161267 euGenes: HUgn622
    ECgene: BDH1 Kegg: 622 H-InvDB: BDH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BDH1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BDH1 gene:
    Search GeneIP for patents involving BDH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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