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BCKDHB Gene

protein-coding   GIFtS: 66
GCID: GC06P080816

Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide

  See related diseases
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
Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide1 2     Maple Syrup Urine Disease1
Branched-Chain Alpha-Keto Acid Dehydrogenase E1 Component Beta Chain2 3     2-Oxoisovalerate Dehydrogenase Beta Subunit2
BCKDE1B2 3     2-Oxoisovalerate Dehydrogenase Subunit Beta, Mitochondrial2
BCKDH E1-Beta2 3     Branched Chain Alpha-Ketoacid Dehydrogenase E1-Beta Subunit2
EC 1.2.4.43 8     dJ279A18.12
E1B2 5     E1b-Beta Subunit Of The Branched-Chain Complex2

External Ids:    HGNC: 9871   Entrez Gene: 5942   Ensembl: ENSG000000831237   OMIM: 2486115   UniProtKB: P219533   

Export aliases for BCKDHB gene to outside databases

Previous GC identifers: GC06P080759 GC06P080811 GC06P080873 GC06P078039


(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 BCKDHB Gene:
Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of
mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple
copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and
lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated
with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in
addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in
transcript variants with different 3' non-coding regions, but encoding the same isoform. (provided by RefSeq, Jul
2008)

GeneCards Summary for BCKDHB Gene:
BCKDHB (branched chain keto acid dehydrogenase E1, beta polypeptide) is a protein-coding gene. Diseases associated with BCKDHB include maple syrup urine disease type 1b, and maple syrup urine disease type 1a. GO annotations related to this gene include alpha-ketoacid dehydrogenase activity and protein complex binding. An important paralog of this gene is PDHB.

UniProtKB/Swiss-Prot: ODBB_HUMAN, P21953
Function: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids
to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid
decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)

Gene Wiki entry for BCKDHB 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:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BCKDHB gene promoter:
         TBP   USF1   HOXA3   Lmo2   POU2F1   TFIID   POU2F1b   POU2F1a   USF-1   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCKDHB promoter sequence
   Search Chromatin IP Primers for BCKDHB

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


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

Entrez Gene cytogenetic band: 6q14.1   Ensembl cytogenetic band:  6q14.1   HGNC cytogenetic band: 6q14.1

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P080816:  view genomic region     (about GC identifiers)

Start:
80,816,344 bp from pter      End:
81,055,987 bp from pter
Size:
239,644 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ODBB_HUMAN, P21953 (See protein sequence)
Recommended Name: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor  
Size: 392 amino acids; 43122 Da
Subunit: Heterotetramer of 2 alpha and 2 beta chains
Selected PDB 3D structures from and Proteopedia for BCKDHB (see all 24):
1DTW (3D)        1OLS (3D)        1OLU (3D)        1OLX (3D)        1U5B (3D)        1V11 (3D)    
Secondary accessions: Q9BQL0

Explore the universe of human proteins at neXtProt for BCKDHB: NX_P21953

Explore proteomics data for BCKDHB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BCKDHB (P21953) (see all 6)
     EIQFADY  QKMNLFQ  FGGVFRCT  HGALYHSQS 


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

    REFSEQ proteins (2 alternative transcripts): 
    NP_000047.1  NP_898871.1  

    ENSEMBL proteins: 
     ENSP00000358775   ENSP00000348880   ENSP00000318351   ENSP00000443564  
    Reactome Protein details: P21953

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR005476 Transketolase_C
     IPR005475 Transketolase-like_Pyr-bd
     IPR009014 Transketo_C/Pyr-ferredox_oxred

    Graphical View of Domain Structure for InterPro Entry P21953

    ProtoNet protein and cluster: P21953

    2 Blocks protein domains:
    IPB005475 Transketolase
    IPB005476 Transketolase



    BCKDHB for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ODBB_HUMAN, P21953
    Function: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids
    to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid
    decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)
    Catalytic activity: 3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase]
    lipoyllysine = [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase]
    S-(2-methylpropanoyl)dihydrolipoyllysine + CO(2)

         Genatlas biochemistry entry for BCKDHB:
    branched chain keto acid dehydrogenase E1,beta polypeptide,inner mitochondrial membrane

         Enzyme Number (IUBMB): EC 1.2.4.41 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003826alpha-ketoacid dehydrogenase activity IEA--
    GO:00038633-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA--
    GO:0005515protein binding IPI10745006
    GO:0016831carboxy-lyase activity TAS11839747
         
    BCKDHB for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for BCKDHB:
     Decreased Hepatitis C virus re  Increased S DNA content 

    Animal Models:
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    miRNA
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    hsa-mir-1 (MIRT001381)

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    hsa-miR-587 hsa-miR-141* hsa-miR-3607-3p hsa-miR-588 hsa-miR-548am hsa-miR-548x hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmidBCKDHB 3' UTR sequence
    Inhib. RNA
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    (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
    ODBB_HUMAN, P21953: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IMP2022752
    GO:0005759mitochondrial matrix TAS--
    GO:0005947mitochondrial alpha-ketoglutarate dehydrogenase complex IMP2022752

    BCKDHB for ontologies           About GeneDecksing


    (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 BCKDHB About    
    See pathways by source

    SuperPathContained pathways About
    1Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    valine degradation I0.00
    isoleucine degradation I0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3superpathway of methionine degradation
    superpathway of methionine degradation
    2-oxobutanoate degradation I0.00
    2-oxoisovalerate decarboxylation to isobutanoyl-CoA0.00
    4Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism0.00
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for BCKDHB
        2-oxoisovalerate decarboxylation to isobutanoyl-CoA
    isoleucine degradation I
    valine degradation I
    superpathway of methionine degradation
    2-oxobutanoate degradation I


    1 Reactome Pathway for BCKDHB
        Branched-chain amino acid catabolism


    2 Kegg Pathways  (Kegg details for BCKDHB):
        Valine, leucine and isoleucine degradation
    Metabolic pathways


    BCKDHB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including BCKDHB: 
              Amino Acid Metabolism II in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BCKDHB

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

    Selected Interacting proteins for BCKDHB (P219531, 2, 3 ENSP000003183514) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCKDHAP126941, 2, 3, ENSP000002699804EBI-1029067,EBI-1029053 MINT-25099 I2D: score=5 STRING: ENSP00000269980
    BCKDKO148743, ENSP000002197944I2D: score=1 STRING: ENSP00000219794
    WIPI2Q9Y4P83I2D: score=1 
    ACAD8ENSP000002811824STRING: ENSP00000281182
    ACADSBENSP000003578734STRING: ENSP00000357873
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007584response to nutrient IEA--
    GO:0008152metabolic process ----
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    BCKDHB for ontologies           About GeneDecksing



    (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 BCKDHB (ODBB)

    Selected HMDB Compounds for BCKDHB (see all 43)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Ketobutyric acid2-Ketobutanoate (see all 35)600-18-0--
    2-Methyl-1-hydroxypropyl-ThPP2-Methyl-1-hydroxypropyl-TPP ----
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3-Methyl-1-hydroxybutyl-ThPP3-Methyl-1-hydroxybutyl-TPP ----

    2 Novoseek inferred chemical compound relationships for BCKDHB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiamin diphosphate 81.6 13 12902323 (3), 16472748 (3), 15166214 (2)
    pyruvate 40.2 3 2322554 (1), 17329260 (1), 12902323 (1)



    BCKDHB for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BCKDHB gene (2 alternative transcripts): 
    NM_000056.3  NM_183050.2  

    Unigene Cluster for BCKDHB:

    Branched chain keto acid dehydrogenase E1, beta polypeptide
    Hs.654441  [show with all ESTs]
    Unigene Representative Sequence: NM_183050
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369760 ENST00000356489(uc003pjd.2) ENST00000320393(uc003pje.2)
    ENST00000486968 ENST00000468520 ENST00000491328 ENST00000545529
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    hsa-miR-587 hsa-miR-141* hsa-miR-3607-3p hsa-miR-588 hsa-miR-548am hsa-miR-548x hsa-miR-3157-5p
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    Additional mRNA sequence: 

    AK289977.1 AK304353.1 AK310838.1 AK316545.1 BC040139.2 BT020063.1 M55575.1 U50708.1 
    U51016.1 

    9 DOTS entries:

    DT.95163841  DT.91750490  DT.101981729  DT.91750498  DT.95163843  DT.91980418  DT.121391333  DT.40118217 
    DT.97772536 

    Selected AceView cDNA sequences (see all 154):

    M55575 CR623511 AI366923 BG697977 CA388754 AA262255 BQ024234 BE886515 
    CA447889 BU163974 BQ775613 CR604591 AA262254 CR590082 BF507601 BE855721 
    BU191109 AW074195 BV201133 BG529969 BF436174 AA470010 BF939515 AA482635 

    GeneLoc Exon Structure


    (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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    BCKDHB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BCKDHB Expression
    About this image


    BCKDHB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    BCKDHB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCKDHB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654441
        Pathway & Disease-focused RT2 Profiler PCR Array including BCKDHB: 
              Amino Acid Metabolism II in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCKDHB

    (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 eukaryotes.

    Orthologs for BCKDHB gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bckdhb1 , 5 branched chain ketoacid dehydrogenase E1, beta polypeptide1, 5 88.41(n)1
    97.2(a)1
      9 (45.67 cM)5
    120401  NM_199195.11  NP_954665.11 
     839487815 
    chicken
    (Gallus gallus)
    Aves BCKDHB1 branched chain keto acid dehydrogenase E1, beta polypeptide 78.89(n)
    86.28(a)
      395375  NM_204657.1  NP_989988.1 
    lizard
    (Anolis carolinensis)
    Reptilia BCKDHB6
    branched chain keto acid dehydrogenase E1, beta po...
    81(a)
    1 ↔ 1
    1(199154509-199207313)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.130252 Xenopus laevis transcribed sequence with strong similarity more 77.34(n)    BX843481.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CA975043.12   -- 74.69(n)    CA975043.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG176911 , 3 3-methyl-2-oxobutanoate dehydrogenase
    (lipoamide)3
    CG176911
    66(a)3
    61.03(n)1
    65.58(a)1
      33550691  NM_001015354.31  NP_001015354.31 
    worm
    (Caenorhabditis elegans)
    Secernentea F27D4.53
    tag-1731
    2-oxoisovalerate dehydrogenase3
    tag-1731
    65(a)3
    64.46(n)1
    66.28(a)1
      I(7735209-7736123)3
    1725391  NM_059748.41  NP_492149.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PDB16
    E1 beta subunit of the pyruvate dehydrogenase (PDH...
    32(a)
    1 → many
    II(665153-666253) YBR221C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BCDH BETA11 BCDH BETA1 63.57(n)
    67.8(a)
      841998  NM_104426.3  NP_175947.1 
    rice
    (Oryza sativa)
    Liliopsida Os.119822 Oryza sativa (japonica cultivar-group) cDNA clone0 more 76.75(n)    AK102495.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BCKDHB gene
    PDHB2  
    1 SIMAP similar gene for BCKDHB using alignment to 2 protein entries:     ODBB_HUMAN (see all proteins):
    PDHB

    BCKDHB for paralogs           About GeneDecksing



    (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 BCKDHB (see all 4994)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289348951,2,4
    Maple syrup urine disease 1B (MSUD1B)4--see VAR_0248512 mis40--------
    VAR_0049744
    Maple syrup urine disease 1B (MSUD1B)4--see VAR_0049742 H R mis40--------
    VAR_0248524
    Maple syrup urine disease 1B (MSUD1B)4--see VAR_0248522 G S mis40--------
    VAR_0683494
    Maple syrup urine disease 1B (MSUD1B)4--see VAR_0683492 Q R mis40--------
    VAR_0683484
    Maple syrup urine disease 1B (MSUD1B)4--see VAR_0683482 R H mis40--------
    rs797618671,2
    C,Fpathogenic180850449(+) TATCCG/CGTCCC 4 /P /R mis11Minor allele frequency- C:0.00NA 4550
    rs350424811,2
    C--78041102(+) AAAGT-/A/AAA 
            
    AAAAA
    2 -- int10--------
    rs664790771,2
    C--78070835(+) AATTCT/-TTTTT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs58776961,2
    C--78084705(+) TATTC-/TTTTTT 2 -- int1 trp30--------
    rs354496331,2
    C--78085708(+) CGTGG-/CCAGGC 2 -- int12Minor allele frequency- C:0.25NA 4

    HapMap Linkage Disequilibrium report for BCKDHB (80816344 - 81055987 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for BCKDHB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663059CNV Deletion23128226
    nsv5371CNV Insertion18451855
    nsv463907CNV Loss19166990
    esv21744CNV Gain19812545
    nsv830708CNV Gain17160897
    nsv524214CNV Gain19592680
    nsv886309CNV Gain21882294
    nsv886310CNV Gain21882294

    Human Gene Mutation Database (HGMD): BCKDHB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BCKDHB
    DNA2.0 Custom Variant and Variant Library Synthesis for BCKDHB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 248611   
    OMIM disorders: 248600  
    UniProtKB/Swiss-Prot: ODBB_HUMAN, P21953
  • Maple syrup urine disease 1B (MSUD1B) [MIM:248600]: A metabolic disorder due to an enzyme defect in the
    catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3
    amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration.
    Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine.
    The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine
    disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and
    symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after
    birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but
    they still involve developmental delay and other medical problems if not treated. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 15 diseases for BCKDHB:    
    About MalaCards
    maple syrup urine disease type 1b    maple syrup urine disease type 1a    maple syrup urine disease    maple syrup urine disease type 2
    gliosarcoma    premature ovarian failure    celiac disease    malignant glioma
    labyrinthitis    ischemia    pneumonia    tuberculosis
    multiple myeloma    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for BCKDHB:
    Maple syrup urine disease

    BCKDHB for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for BCKDHB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    maple syrup urine disease 91.2 3 16786533 (1), 19480318 (1), 17922217 (1)

    GeneTests: BCKDHB
    GeneReviews: BCKDHB
    Genetic Association Database (GAD): BCKDHB
    Human Genome Epidemiology (HuGE) Navigator: BCKDHB (3 documents)

    Export disorders for BCKDHB 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)
    About This Section

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    PubMed articles for BCKDHB gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with BCKDHB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. (PubMed id 11509994)1, 2, 4, 9 Edelmann L.... Diaz G.A. (Am. J. Hum. Genet. 2001)
    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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    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. Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences. (PubMed id 8651316)1, 2 Chuang J.L.... Chuang D.T. (Am. J. Hum. Genet. 1996)
    6. Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N- terminal proline in the rat sequence. (PubMed id 7918575)1, 2 Wynn R.M.... Chuang D.T. (Biochim. Biophys. Acta 1994)
    7. Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex. (PubMed id 8161368)1, 2 Nobukuni Y.... Matsuda I. (Biochim. Biophys. Acta 1993)
    8. Molecular cloning of the mature E1b-beta subunit of human branched- chain alpha-keto acid dehydrogenase complex. (PubMed id 2335211)1, 2 Chuang J.L.... Chuang D.T. (FEBS Lett. 1990)
    9. Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease. (PubMed id 2365818)1, 2 Matsuda I....Nobukuni Y. (J. Clin. Invest. 1990)
    10. The two active sites in human branched-chain alpha-keto acid dehydrogenase operate independently without an obligatory alternating-site mechanism. (PubMed id 17329260)1, 9 Li J....Chuang D.T. (J. Biol. Chem. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 594 HGNC: 987 AceView: BCKDHB Ensembl:ENSG00000083123 euGenes: HUgn594
    ECgene: BCKDHB Kegg: 594 H-InvDB: BCKDHB

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for BCKDHB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BCKDHB[genesymbol]

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

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



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