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

BCKDK Gene

protein-coding   GIFtS: 59
GCID: GC16P031117

branched chain ketoacid dehydrogenase kinase

 Explore 3 diseases affiliated with
BCKDK via our new
 Human Malady Compendium 
Biological research products
for BCKDK
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Branched Chain Ketoacid Dehydrogenase Kinase1 2     BDK2
BCKD-Kinase1     [3-Methyl-2-Oxobutanoate Dehydrogenase [Lipoamide]] Kinase, Mitochondrial2
BCKDHKIN2 3     Branched Chain Alpha-Ketoacid Dehydrogenase Kinase2
EC 2.7.11.43 8     Branched-Chain Alpha-Ketoacid Dehydrogenase Kinase3
BCKDKD2     EC 2.7.118

External Ids:    HGNC: 169021   Entrez Gene: 102952   Ensembl: ENSG000001035077   OMIM: 6149015   UniProtKB: O148743   

Export aliases for BCKDK gene to outside databases

Previous GC identifers: GC16P030201 GC16P031616 GC16P031116 GC16P031155 GC16P031027 GC16P031024 GC16P028680


(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 BCKDK:
The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and
isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates
and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. (provided
by RefSeq, Dec 2012)

UniProtKB/Swiss-Prot: BCKD_HUMAN, O14874
Function: Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex,
the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the
activity state of the BCKD complex (By similarity)

Gene Wiki entry for BCKDK


(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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCKDK gene promoter:
         SRF   C/EBPbeta   AML1a   Pax-5   Tal-1   SRF (504 AA)   E47   COMP1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCKDK promoter sequence
   Search SABiosciences Chromatin IP Primers for BCKDK

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


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P031117:  view genomic region     (about GC identifiers)

Start:
31,117,428 bp from pter      End:
31,124,112 bp from pter
Size:
6,685 bases      Orientation:
plus strand

(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: BCKD_HUMAN, O14874 (See protein sequence)
Recommended Name: [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial precursor  
Size: 412 amino acids; 46360 Da
Subunit: Monomer (By similarity)
Subcellular location: Mitochondrion matrix
Secondary accessions: Q6FGL4 Q96IN5

Explore the universe of human proteins at neXtProt for BCKDK: NX_O14874

Post-translational modifications:

  • Autophosphorylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14874

  • 2 DME Specific Peptides for BCKDK (O14874)
     KNAMRAT  YCQLVRQLLDDHKDVVTLLAEGLRESRK 

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001116429.1  NP_001258855.1  NP_005872.2  

    ENSEMBL proteins: 
     ENSP00000378405   ENSP00000456479   ENSP00000378404   ENSP00000287507   ENSP00000219794  
     ENSP00000455866   ENSP00000454947   ENSP00000457226   ENSP00000457821  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BCKDK

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS11839747
    GO:0005947mitochondrial alpha-ketoglutarate dehydrogenase complex TAS11839747


    BCKDK for ontologies           About GeneDecksing



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

    BCKDK for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR005467 Sig_transdc_His_kinase_core
     IPR003594 ATPase-like_ATP-bd
     IPR018955 BCDHK/PDK_N
     IPR004358 Sig_transdc_His_kin-like_C

    Graphical View of Domain Structure for InterPro Entry O14874

    ProtoNet protein and cluster: O14874

    2 Blocks protein families:
    IPB003594 ATP-binding region
    IPB004358 Bacterial sensor protein C-terminal signature


    UniProtKB/Swiss-Prot: BCKD_HUMAN, O14874
    Similarity: Belongs to the PDK/BCKDK protein kinase family
    Similarity: Contains 1 histidine kinase domain


    (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: BCKD_HUMAN, O14874
    Function: Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex,
    the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the
    activity state of the BCKD complex (By similarity)
    Catalytic activity: ATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] = ADP +
    [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate

    Enzyme Numbers (IUBMB): EC 2.7.11.41 2 EC 2.7.112

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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000155phosphorelay sensor kinase activity ----
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity ISS--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding ISS--


    BCKDK for ontologies           About GeneDecksing


    7 GenomeRNAi human phenotypes for BCKDK:
     Decreased focal adhesion (FA)   Decreased viability with carbo  Decreased viability with pacli  Gemcitabine induced cell-death 
     Increased apoptosis  Increased cell death HMECs cel  Synthetic lethal with paclitax 

    Animal Models:
         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bckdk):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  integument 
     liver/biliary system  mortality/aging  muscle  nervous system  renal/urinary system 
     reproductive system 

    BCKDK for phenotypes           About GeneDecksing


    (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



    Interactions:

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

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

    5/55 Interacting proteins for BCKDK (O148741, 2, 3 ENSP000002197944) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAB39Q9Y3763, ENSP000002584184I2D: score=2 STRING: ENSP00000258418
    RTCAO004423, ENSP000002605634I2D: score=2 STRING: ENSP00000260563
    TRAF4Q9BUZ43, ENSP000002623954I2D: score=3 STRING: ENSP00000262395
    BCKDHAP126943, ENSP000002699804I2D: score=2 STRING: ENSP00000269980
    CAB39LQ9H9S43, ENSP000002616694I2D: score=2 STRING: ENSP00000261669
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0009063cellular amino acid catabolic process NAS2403034
    GO:0009083branched-chain amino acid catabolic process TAS11839747
    GO:0016310phosphorylation TAS11839747
    GO:0018106peptidyl-histidine phosphorylation ----


    BCKDK for ontologies           About GeneDecksing



    (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

    BCKDK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for BCKDK

    3 HMDB Compounds for BCKDK    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Ketobutyric acid2-Ketobutanoate (see all 35)600-18-0--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    2 DrugBank Compounds for BCKDK    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423 10592235
    Adenosine-5'-Diphosphate Monothiophosphate-- --target--17139284 17016423 10592235

    1 Novoseek chemical compound relationship for BCKDK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyruvate 42.6 2 1496922 (1), 11915939 (1)

    Search CenterWatch for drugs/clinical trials and news about BCKDK / BCKD 

    (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,
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    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 BCKDK gene (3 alternative transcripts): 
    NM_001122957.2  NM_001271926.1  NM_005881.3  

    Unigene Cluster for BCKDK:

    Branched chain ketoacid dehydrogenase kinase
    Hs.513520  [show with all ESTs]
    Unigene Representative Sequence: NM_001122957
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394951 ENST00000567530 ENST00000394950 ENST00000287507 ENST00000219794(uc002eaw.4 uc002eav.4 uc010cai.3)
    ENST00000566568 ENST00000561755 ENST00000567676 ENST00000484226 ENST00000567682


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    Additional cDNA sequence: 

    AF026548.1 AK130145.1 AK294691.1 BC007363.2 BC009872.2 CR542093.1 

    23 DOTS entries:

    DT.95368531  DT.100881645  DT.100881627  DT.100881636  DT.120712259  DT.100881653  DT.100881638  DT.116459 
    DT.120712285  DT.100881648  DT.100881654  DT.100881626  DT.120712250  DT.95368536  DT.100881632  DT.100881649 
    DT.100833467  DT.120712241  DT.86821246  DT.95368522  DT.95378618  DT.99992038  DT.121639778 

    24/385 AceView cDNA sequences (see all 385):

    AU130308 C20971 BE272338 BM916406 AW575117 BX367223 BM547505 BU557036 
    BM467981 BM720618 AI140015 AI304697 CR608547 BM724220 AA377039 CF454470 
    CA427223 BM811294 F06112 CA425739 F36835 CR613328 BI855669 BM722457 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for BCKDK (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c
    SP1:                    -                                   -                       -                                   -                     
    SP2:                    -                                   -                       -                                                         
    SP3:                    -                                   -                       -                       -                                 
    SP4:                    -           -     -     -     -     -     -     -     -     -     -     -                                             
    SP5:                    -                                                                                                                     


    ECgene alternative splicing isoforms for BCKDK

    (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

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

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

    About this image
    See BCKDK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCKDK

    SOURCE GeneReport for Unigene cluster: Hs.513520

    UniProtKB/Swiss-Prot: BCKD_HUMAN, O14874
    Tissue specificity: Ubiquitous

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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 animals and fungi.

    Orthologs for BCKDK gene from 4/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia BCKDK6
    --
    83(a)
    1 ↔ 1
    GL343220.1(2194704-2206835)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.329942 Xenopus laevis transcribed sequence with moderate similarity more 79.53(n)    BX855547.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.251592 Danio rerio mRNA similar to branched chain alpha-ketoacid more 76.36(n)    BC051774.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PKP1(YIL042C)4
    PKP11
    Mitochondrial protein kinase involved in negative regulation more4
    Pkp1p1
    44.8(n)1
    31.23(a)1
      9(276292-275108)4
    8547691, 4  NP_012222.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCKDK gene
    PDK12  PDK42  PDK22  PDK32  
    2 SIMAP similar genes for BCKDK using alignment to 8 protein entries:     BCKD_HUMAN (see all proteins):
    PDK1    PDK2

    BCKDK for paralogs           About GeneDecksing



    (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

    10/142 NCBI SNPs in BCKDK are shown (see all 142    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs557660441,2
    --31117698(+) ACCTCC/TGCCTC 2 -- us2k10--------
    rs1905255151,2
    --31117705(+) CCTCCC/TGGGTT 2 -- us2k10--------
    rs1926939251,2
    --31117719(+) GCGATC/TCTTCT 2 -- us2k10--------
    rs1839664291,2
    --31117868(+) TTGGCC/TTCCCA 2 -- us2k10--------
    rs127169811,2
    C,F,A,H,--31118024(+) CGAGAC/ACCCGG 2 -- us2k111Minor allele frequency- A:0.26NS EA NA CSA WA 776
    rs767635111,2
    C--31118027(+) GACCCC/TGGCTC 2 -- us2k10--------
    rs1179914081,2
    --31118053(+) AGGCAC/TGGTGG 2 -- us2k11Minor allele frequency- T:0.01NA 120
    rs1455312311,2
    --31118117(+) GGGGG-/AAAAAA 2 -- us2k10--------
    rs1882945901,2
    --31118211(+) AGTGAA/GCTACT 2 -- us2k10--------
    rs1811159211,2
    --31118391(+) CTACAC/TACATA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for BCKDK (31117428 - 31124112 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BCKDK: --
    Human Gene Mutation Database (HGMD): BCKDK

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    (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

    BCKDK for disorders           About GeneDecksing

    OMIM gene information: 614901    OMIM disorders: --

    UniProtKB/Swiss-Prot: BCKD_HUMAN, O14874
  • Defects in BCKDK are the cause of branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD)
  • [MIM:614923]. A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced
    branched-chain amino acids. Note=A diet enriched in branched amino acids (BCAAs) allows to normalize plasma BCAA
    levels. This suggests that it may be possible to treat patients with mutations in BCKDK with BCAA supplementation

    3 diseases for BCKDK:    About MalaCards
    maple syrup urine disease    protein s deficiency    obesity

    Human Genome Epidemiology (HuGE) Navigator: BCKDK (4 documents)

    Export disorders for BCKDK 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 BCKDK gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with BCKDK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31. (PubMed id 1889817)1, 3 Zneimer S.M....Cox R.P. (1991)
    3. Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease. (PubMed id 2403034)1, 9 Harris R.A....Crabb D.W. (1990)
    4. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. (PubMed id 22956686)2 Novarino G.... Gleeson J.G. (2012)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. 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)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. The protein network surrounding the human telomere re peat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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      Query String
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      (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: 10295 HGNC: 16902 AceView: BCKDK Ensembl:ENSG00000103507 euGenes: HUgn10295
    ECgene: BCKDK H-InvDB: BCKDK

    (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 BCKDK Pharmacogenomics, SNPs, Pathways

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

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



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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