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

BCKDHA Gene

protein-coding   GIFtS: 64
GCID: GC19P041857

Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide

(Previous names: branched chain keto acid dehydrogenase E1, alpha polypeptide...)
(Previous symbol: OVD1A)
Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide1 2     EC 1.2.4.43 8
2-Oxoisovalerate Dehydrogenase (Lipoamide)1 2     MSUD12 5
OVD1A1 2     Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide (Maple Syrup
Urine Disease)1
Branched-Chain Alpha-Keto Acid Dehydrogenase E1 Component Alpha Chain2 3     Maple Syrup Urine Disease1
BCKDE1A2 3     2-Oxoisovalerate Dehydrogenase Subunit Alpha, Mitochondrial2
BCKDH E1-Alpha2 3     MSU2

External Ids:    HGNC: 9861   Entrez Gene: 5932   Ensembl: ENSG000002480987   OMIM: 6083485   UniProtKB: P126943   

Export aliases for BCKDHA gene to outside databases

Previous GC identifers: GC19P042543 GC19P042295 GC19P046579 GC19P046595 GC19P041903 GC19P038335


(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 BCKDHA Gene:
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex
that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and
valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain
alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3).
This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple
syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this
gene.(provided by RefSeq, Sep 2009)

GeneCards Summary for BCKDHA Gene: 
BCKDHA (branched chain keto acid dehydrogenase E1, alpha polypeptide) is a protein-coding gene. Diseases associated with BCKDHA include maple syrup urine disease type 1a, and pyuria, and among its related super-pathways are valine degradation I and Metabolic pathways. GO annotations related to this gene include 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity and carboxy-lyase activity. An important paralog of this gene is PDHA2.

UniProtKB/Swiss-Prot: ODBA_HUMAN, P12694
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 BCKDHA 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCKDHA gene promoter:
         NF-1   USF1   AP-1   GR-beta   ATF-2   USF2   USF-1:USF-2   E47   USF-1   c-Jun   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCKDHA


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

Entrez Gene cytogenetic band: 19q13.1-q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1-q13.2

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P041857:  view genomic region     (about GC identifiers)

Start:
41,856,758 bp from pter      End:
41,930,910 bp from pter
Size:
74,153 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ODBA_HUMAN, P12694 (See protein sequence)
Recommended Name: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial precursor  
Size: 445 amino acids; 50471 Da
Cofactor: Thiamine pyrophosphate
Subunit: Heterotetramer of alpha and beta chains
Subcellular location: Mitochondrion matrix
Miscellaneous: Bound potassium ions stabilize the protein structure
Sequence caution: Sequence=AAB59549.1; Type=Erroneous initiation;
6/24 PDB 3D structures from and Proteopedia for BCKDHA (see all 24):
1DTW (3D)        1OLS (3D)        1OLU (3D)        1OLX (3D)        1U5B (3D)        1V11 (3D)    
Secondary accessions: Q16034 Q16472

Explore the universe of human proteins at neXtProt for BCKDHA: NX_P12694

Explore proteomics data for BCKDHA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12694

  • 4/9 DME Specific Peptides for BCKDHA (P12694) (see all 9)
     GHHSTSDDSS  YFGEGAASEGD  KVMEAFEQAERK  SLDDKPQFPGASAEF 

    BCKDHA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BCKDHA Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000700.1  NP_001158255.1  

    ENSEMBL proteins: 
     ENSP00000269980   ENSP00000440345   ENSP00000416000   ENSP00000445809   ENSP00000445727  
     ENSP00000471150  
    Reactome Protein details: P12694
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS11839747
    GO:0005759mitochondrial matrix TAS--
    GO:0005947mitochondrial alpha-ketoglutarate dehydrogenase complex IDA7883996

    BCKDHA for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001017 DH_E1

    Graphical View of Domain Structure for InterPro Entry P12694

    ProtoNet protein and cluster: P12694

    1 Blocks protein domain: IPB001017 Dehydrogenase

    UniProtKB/Swiss-Prot: ODBA_HUMAN, P12694
    Similarity: Belongs to the BCKDHA family


    BCKDHA 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ODBA_HUMAN, P12694
    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 BCKDHA:
    branched chain keto acid dehydrogenase E1,alpha polypeptide,inner mitochondrial membrane

         Enzyme Number (IUBMB): EC 1.2.4.41 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003826alpha-ketoacid dehydrogenase activity IDA7883996
    GO:00038633-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA--
    GO:0005515protein binding IPI10745006
    GO:0016624oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor ----
    GO:0016831carboxy-lyase activity TAS11839747
         
    BCKDHA for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for BCKDHA:
     Increased gamma-H2AX phosphory  Upregulation of Wnt/beta-caten 

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    SwitchGear 3'UTR luciferase reporter plasmidBCKDHA 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BCKDHA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Branched-chain amino acid catabolism
    valine degradation I0.53
    Branched-chain amino acid catabolism0.50
    isoleucine degradation I0.53
    Valine, leucine and isoleucine degradation0.39
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    32-oxobutanoate degradation I
    2-oxobutanoate degradation I0.57
    superpathway of methionine degradation0.37
    2-oxoisovalerate decarboxylation to isobutanoyl-CoA0.57
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    3        Reactome Pathways for BCKDHA
        Metabolism
    Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism


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


    BCKDHA for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/20 Interacting proteins for BCKDHA (P126941, 2, 3 ENSP000002699804) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCKDHBP219531, 2, 3, ENSP000003183514EBI-1029053,EBI-1029067 MINT-25099 I2D: score=5 STRING: ENSP00000318351
    BCKDKO148743, ENSP000002197944I2D: score=2 STRING: ENSP00000219794
    SEC24CP539923I2D: score=5 
    GABARAPO951663I2D: score=1 
    GABARAPL1Q9H0R83I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

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

    BCKDHA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BCKDHA (ODBA)

    10/47 HMDB Compounds for BCKDHA (see all 47)    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-hydroxybutyl-ThPP2-Methyl-1-hydroxybutyl-TPP ----
    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)----

    Search CenterWatch for drugs/clinical trials and news about BCKDHA / ODBA

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BCKDHA gene (2 alternative transcripts): 
    NM_000709.3  NM_001164783.1  

    Unigene Cluster for BCKDHA:

    Branched chain keto acid dehydrogenase E1, alpha polypeptide
    Hs.433307  [show with all ESTs]
    Unigene Representative Sequence: BF206112
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000604424 ENST00000269980(uc002oqp.2 uc002oqr.3 uc002oqq.3)
    ENST00000538423 ENST00000542943 ENST00000457836(uc010xvz.2) ENST00000541315
    ENST00000535632 ENST00000545787 ENST00000544905 ENST00000595085
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB209828.1 AK298188.1 AK313300.1 BC007878.2 BC008933.2 BC023983.1 J04474.1 M22221.1 
    Z14093.1 

    19 DOTS entries:

    DT.101978383  DT.100803741  DT.100812998  DT.448443  DT.100813014  DT.100008928  DT.92472108  DT.100813002 
    DT.121460964  DT.121460916  DT.95267358  DT.100806926  DT.100813013  DT.100813018  DT.121461061  DT.121461111 
    DT.95267362  DT.100812999  DT.100813017 

    24/705 AceView cDNA sequences (see all 705):

    AU121636 BM563730 BM726200 BM674143 BM920760 BI906794 CR591555 BM838248 
    BM702667 BM719632 CR605564 BU187873 BX336787 CR610394 AW250434 NM_000709 
    BM759293 BX336786 AU077166 BM664738 BM680818 BE785727 CR598478 CA417344 

    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™, 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

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


    BCKDHA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
     
     Eye (Sensory Organs)
             sensory organ/eye/cornea   

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

    SOURCE GeneReport for Unigene cluster: Hs.433307
        SABiosciences Expression via Pathway-Focused PCR Arrays including BCKDHA: 
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BCKDHA gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bckdha1 , 5 branched chain ketoacid dehydrogenase E1, alpha polypeptide1, 5 87.19(n)1
    92.58(a)1
      7 (13.94 cM)5
    120391  NM_007533.51  NP_031559.31 
     256298525 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    80(a)
    1 → many
    LGf(3960596-3975633)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.331552 Xenopus laevis transcribed sequence with moderate similarity more 77.51(n)    CA981455.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bckdha1 branched chain keto acid dehydrogenase E1, alpha polypeptide 72.9(n)
    80.61(a)
      554124  NM_001024419.1  NP_001019590.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG81991 , 3 3-methyl-2-oxobutanoate dehydrogenase
    (lipoamide)3
    CG81991
    60(a)3
    62.05(n)1
    60.45(a)1
      85D243
    411491  NM_141648.21  NP_649905.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y39E4A.31 , 3 Transketolase3
    Protein Y39E4A.31
    56(a)3
    61.07(n)1
    63.52(a)1
      III(13039506-13043104)3
    1767161  NM_001038287.11  NP_001033376.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PDA16
    E1 alpha subunit of the pyruvate dehydrogenase (PD...
    24(a)
    1 → many
    V(546817-548079)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G093001 2-oxoisovalerate dehydrogenase E1 component, alpha more 52.25(n)
    47(a)
      830789  NM_120966.3  NP_568209.1 
    rice
    (Oryza sativa)
    Liliopsida Os.179092 Oryza sativa branched chain alpha-keto acid dehydrogenase more 73.35(n)    AK060732.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCKDHA gene
    PDHA22  PDHA12  ENSG000002557302  
    14 SIMAP similar genes for BCKDHA using alignment to 6 protein entries:     ODBA_HUMAN (see all proteins):
    DKFZp313C0640    DNAPTP3    FLJ20555    TMEM91    CCT3    C14orf2
    FAM138A    FAM138B    FAM138C    FAM138F    OK/SW-cl.41    KIAA1651
    FAM138D    C14orf178

    BCKDHA 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) 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

    10/785 SNPs in BCKDHA are shown (see all 785)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0049694
    Maple syrup urine disease 1A (MSUD1A)4--see VAR_0049692 Q K mis40--------
    VAR_0049714
    Maple syrup urine disease 1A (MSUD1A)4--see VAR_0049712 I T mis40--------
    VAR_0151014
    Maple syrup urine disease 1A (MSUD1A)4--see VAR_0151012 G R mis40--------
    VAR_0049704
    Maple syrup urine disease 1A (MSUD1A)4--see VAR_0049702 A T mis40--------
    VAR_0049684
    Maple syrup urine disease 1A (MSUD1A)4--see VAR_0049682 R W mis40--------
    VAR_0151024
    Maple syrup urine disease 1A (MSUD1A)4--see VAR_0151022 F C mis40--------
    VAR_0049734
    Maple syrup urine disease 1A (MSUD1A)4--see VAR_0049732 Y N mis40--------
    VAR_0049724
    Maple syrup urine disease 1A (MSUD1A)4--see VAR_0049722 Y C mis40--------
    rs1378528701,2
    Cpathogenic142118836(+) AGCACA/TACCCA 4 N Y mis10--------
    VAR_0343604
    ----see VAR_0343602 P H mis40--------

    HapMap Linkage Disequilibrium report for BCKDHA (41856758 - 41930910 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for BCKDHA: --

    Human Gene Mutation Database (HGMD): BCKDHA
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing BCKDHA
    DNA2.0 Custom Variant and Variant Library Synthesis for BCKDHA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608348   
    OMIM disorders: 248600  
    UniProtKB/Swiss-Prot: ODBA_HUMAN, P12694
  • Maple syrup urine disease 1A (MSUD1A) [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

  • 12 diseases for BCKDHA:    About MalaCards
    maple syrup urine disease type 1a    pyuria    maple syrup urine disease    urethral syndrome
    bacteriuria    hyperuricemia    urethritis    arthropathy
    gout    synovitis    pneumonia    tuberculosis

    5 diseases from the University of Copenhagen DISEASES database for BCKDHA:
    Gout     Hyperuricemia     Pseudogout     Bacteriuria
    Urethral syndrome

    BCKDHA for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for BCKDHA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    maple syrup urine disease 95.4 5 16786533 (1), 19480318 (1), 8037208 (1), 17922217 (1) (see all 5)

    GeneTests: BCKDHA
    GeneReviews: BCKDHA
    Genetic Association Database (GAD): BCKDHA
    Human Genome Epidemiology (HuGE) Navigator: BCKDHA (2 documents)

    Export disorders for BCKDHA 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

    PubMed articles for BCKDHA gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with BCKDHA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. (PubMed id 8037208)1, 2, 9 Chuang J.L.... Chuang D.T. (1994)
    2. DNA carrier testing and newborn screening for maple s yrup urine disease in old order mennonite communities. (PubMed id 20136525)1, 4 Carleton S.M....Phillips C.L. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. 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)
    6. Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. (PubMed id 10745006)1, 2 Aevarsson A....Hol W.G.J. (2000)
    7. Molecular and biochemical basis of intermediate maple syrup urine disease: occurrence of homozygous G245R and F364C mutations at the E1- alpha locus of Hispanic-Mexican patients. (PubMed id 7883996)1, 2 Chuang J.L....Chuang D.T. (1995)
    8. 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. (1994)
    9. 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. (1993)
    10. Nucleotide sequence of the 5' end including the initiation codon of cDNA for the E1 alpha subunit of the human branched chain alpha- ketoacid dehydrogenase complex. (PubMed id 1420356)1, 2 McKean M.C.... Danner D.J. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 593 HGNC: 986 AceView: BCKDHA Ensembl:ENSG00000248098 euGenes: HUgn593
    ECgene: BCKDHA Kegg: 593 H-InvDB: BCKDHA

    (According to HUGE)
    About This Section
      --

    (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 BCKDHA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BCKDHA

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

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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