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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BDH1 Gene

protein-coding   GIFtS: 62
GCID: GC03M197236

3-hydroxybutyrate dehydrogenase, type 1

(Previous names: 3-hydroxybutyrate dehydrogenase (heart, mitochondrial)...)
(Previous symbol: BDH)
 Explore 13 diseases affiliated with
BDH1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BDH1    

Aliases
for BDH1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
3-Hydroxybutyrate Dehydrogenase, Type 11 2     (R)-3-Hydroxybutyrate Dehydrogenase2
BDH1 2 3     D-Beta-Hydroxybutyrate Dehydrogenase, Mitochondrial2
3-Hydroxybutyrate Dehydrogenase (Heart, Mitochondrial)1 2     Short Chain Dehydrogenase/Reductase Family 9C, Member 12
SDR9C11 2     3-Hydroxybutyrate Dehydrogenase3
EC 1.1.1.303 8     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


Summaries
for BDH1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for BDH1:
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)

Gene Wiki entry for BDH1


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_029928.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for BDH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for BDH1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Mitochondrion matrix
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q02338

    • 4/7 DME Specific Peptides for BDH1 (Q02338) (see all 7)
     GVEAFSD  GLVNNAG  TGCDSGFG  VEPGNFIA 

    BDH1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Uscn Proteins for BDH1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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--


    BDH1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for BDH1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BDH1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB002198 Short-chain dehydrogenase/reductase SDR

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


    Function
    for BDH1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: BDH1 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:00038583-hydroxybutyrate dehydrogenase activity TAS--
    GO:0005543phospholipid binding IEA--
    GO:0016491oxidoreductase activity ----


    BDH1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for BDH1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ketone body metabolism
    		Ketone body metabolism1.00
    		Utilization of Ketone Bodies0.60
    		Synthesis and Degradation of Ketone Bodies1.00
    		Synthesis and degradation of ketone bodies0.56
    		Synthesis of Ketone Bodies0.80
    		Butanoate metabolism0.17
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3ketolysis
    		ketolysis1.00
    		ketogenesis0.57
    4FOXA2 and FOXA3 transcription factor networks
    		FOXA2 and FOXA3 transcription factor networks1.00
    5Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    		Fatty acid, triacylglycerol, and ketone body metabolism0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/6        Reactome Pathways for BDH1 (see all 6)
        Ketone body metabolism
    Synthesis of Ketone Bodies
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Metabolism of lipids and lipoproteins


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


    BDH1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BDH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/8 Interacting proteins for BDH1 (Q023383 ENSP000003509144) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRID2O434243I2D: score=1 
    YWHABP319463I2D: score=1 
    AACSENSP000003248424STRING: ENSP00000324842
    HMGCLENSP000003636144STRING: ENSP00000363614
    OXCT1ENSP000001963714STRING: ENSP00000196371
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (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 TAS--
    GO:0009636response to toxin IEA--


    BDH1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for BDH1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BDH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for BDH1

    10/1080 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 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)

    Search CenterWatch for drugs/clinical trials and news about BDH1 / BDH 

    Transcripts
    for BDH1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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 ENST00000434143 ENST00000483920 ENST00000432819
    ENST00000495285 ENST00000431056 ENST00000445160 ENST00000468710 ENST00000492681
    ENST00000476764 ENST00000358186(uc003fxu.3) ENST00000392379(uc003fxr.3)


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    Additional cDNA 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 

    24/179 AceView cDNA sequences (see all 179):

    BC005844 BI756191 BQ889655 BC011964 BF799614 CR626354 CA311474 CR599815 
    BQ897235 BX101019 AA707038 BQ214207 BM804708 AI823708 BQ895997 NM_203315 
    CK431183 NM_203314 BU902422 H57358 BI767253 CR611996 BC019317 NM_004051 

    GeneLoc Exon Structure

    5/10 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

    Expression
    for BDH1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BDH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGAATCTAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BDH1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    CartilageMeckel's CartilageCartilage
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    See BDH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BDH1

    SOURCE GeneReport for Unigene cluster: Hs.274539
        SABiosciences Expression via Pathway-Focused PCR Array including BDH1: 
              Fatty Acid Metabolism in human mouse rat

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    Orthologs
    for BDH1 gene

    (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)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for BDH1 gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves BDH11 3-hydroxybutyrate dehydrogenase, type 1 74.06(n)
    71.01(a)    		   424891  NM_001006547.1  NP_001006547.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 6)    		 --
    		 78(a)
    66(a)
    (see all 6)    		 1 ↔ many
    1 ↔ many
    (see all 6)    		 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 CG88881 CG8888 48.07(n)
    33.33(a)    		   36293  NM_136880.2  NP_610724.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G100506
    AT5G652056
    		 1-acylglycerone phosphate reductase
    Rossmann-fold NAD(P)-binding domain-containing pro...
    		 23(a)
    21(a)
    		 possible ortholog
    possible ortholog
    		 5(3144200-3145730)
    5(26050810-26052034)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 oxidoreductase, short chain dehydrogenase/reductas...
    oxidoreductase, short chain dehydrogenase/reductas...
    		 22(a)
    18(a)
    		 possible ortholog
    possible ortholog
    		 12(27135120-27136028)
    4(22652738-22655412)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria ybbO6
    		 predicted oxidoreductase with NAD(P)-binding Rossm...
    		 27(a)
    		 possible ortholog
    		 Chromosome(517564-518373)


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

    Paralogs
    for BDH1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BDH1 gene
    SDR9C72  DHRS92  HSD11B22  HSD17B62  HSD17B22  RDH82  RDH162  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    HSD11B2    HSD17B2    RDH8    HSD17B1

    BDH1 for paralogs           About GeneDecksing



    Genomic Variants
    for BDH1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1318 NCBI SNPs in BDH1 are shown (see all 1318)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1399065371,2
    		--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
    rs1141346161,2
    		F,--197236727(+) CGAAAG/CGATCC 3 -- ut311Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for BDH1 (197236654 - 197300194 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for BDH1
         7 CNVs: 29733 2492 29732 68566 3473 31144 53339
         3 Indels: 27282 27281 27280
         2 Inversions: 37243 0568

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    Disorders / Diseases
    for BDH1 gene

    (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.)
    About This Section
    BDH1 for disorders           About GeneDecksing

    OMIM gene information: 603063    OMIM disorders: --

    13 diseases for BDH1:    About MalaCards
    malignant conjunctiva melanoma    bile duct adenoma    chromophobe adenocarcinoma    adenoma
    hepatocellular carcinoma    adenocarcinoma    retinitis    tuberculosis
    carcinoma    pancreatitis    neuronitis    mycobacterium tuberculosis
    alcoholism

    1 disease from the University of Copenhagen DISEASES database for BDH1:
    Chromophobe adenocarcinoma
    Human Genome Epidemiology (HuGE) Navigator: BDH1 (3 documents)

    Export disorders for BDH1 gene to outside databases

    Publications
    for BDH1 gene

    (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)
    About This Section

    PubMed articles for BDH1 gene, integrated from 9 sources (see all 40):
    (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. (1992)
    2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    3. 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. (2004)
    4. Wild type and mutant human heart (R)-3-hydroxybutyrate dehydrogenase expressed in insect cells. (PubMed id 8679568)1, 9 Green D....McIntyre J.O. (1996)
    5. 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. (2000)
    6. 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. (1995)
    7. (R)-3-hydroxybutyrate dehydrogenase: selective phosphatidylcholine binding by the C-terminal domain. (PubMed id 11009606)1, 9 Loeb-Hennard C. and McIntyre J.O. (2000)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma th erapy. (PubMed id 21791085)1 Maurer G.D....Rieger J. (2011)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)

    External Searches for BDH1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing BDH1 gene

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

    Other Databases showing BDH1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BDH1 gene

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

    Intellectual Property
    for BDH1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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