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BCKDK Gene

protein-coding   GIFtS: 65
GCID: GC16P031117

Branched Chain Ketoacid Dehydrogenase Kinase

  See BCKDK-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 Ketoacid Dehydrogenase Kinase1 2     BDK2 5
BCKD-kinase2 3     [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 5     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BCKDK Gene:
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)

GeneCards Summary for BCKDK Gene:
BCKDK (branched chain ketoacid dehydrogenase kinase) is a protein-coding gene. Diseases associated with BCKDK include branched-chain ketoacid dehydrogenase kinase deficiency, and chronic granulomatous disease due to deficiency of ncf-1. GO annotations related to this gene include protein serine/threonine kinase activity and [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity. An important paralog of this gene is PDK1.

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 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_187260.1  
Regulatory elements:
   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 Chromatin IP Primers for BCKDK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
Secondary accessions: Q6FGL4 Q96IN5

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

Explore proteomics data for BCKDK at MOPED

Post-translational modifications: 

  • Autophosphorylated (By similarity)1
  • Ubiquitination2 at Lys48
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for BCKDK (O14874)
     KNAMRAT  YCQLVRQLLDDHKDVVTLLAEGLRESRK 


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

    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  

    BCKDK Human Recombinant Protein Products:

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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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    IUPHAR Guide to PHARMACOLOGY protein family classification: branched chain ketoacid dehydrogenase kinase
    Pyruvate dehydrogenase kinase (PDHK) family

    4 InterPro protein domains:
     IPR005467 Sig_transdc_His_kinase_core
     IPR004358 Sig_transdc_His_kin-like_C
     IPR003594 HATPase_ATP-bd
     IPR018955 BCDHK/PDK_N

    Graphical View of Domain Structure for InterPro Entry O14874

    ProtoNet protein and cluster: O14874

    2 Blocks protein domains:
    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


    Find genes that share domains with BCKDK           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity ISS--
    GO:0005515protein binding IPI18985028
    GO:0005524ATP binding ISS--
    GO:0016301kinase activity TAS11839747
         
    Find genes that share ontologies with BCKDK           About GenesLikeMe


    Phenotypes:
         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 

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

    Find genes that share phenotypes with BCKDK           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for BCKDK

    miRNA
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    miRTarBase miRNAs that target BCKDK:
    hsa-mir-7-5p (MIRT025739), hsa-mir-125b-5p (MIRT046097), hsa-mir-615-3p (MIRT040213), hsa-mir-92b-3p (MIRT040528), hsa-mir-103a-3p (MIRT027050), hsa-mir-10a-5p (MIRT047623)

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    7 qRT-PCR Assays for microRNAs that regulate BCKDK:
    hsa-miR-2355-5p hsa-miR-627 hsa-miR-4290 hsa-miR-548q hsa-miR-107 hsa-miR-3616-3p hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidBCKDK 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
    BCKD_HUMAN, O14874: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with BCKDK           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BCKDK
    Interactions:

        Search GeneGlobe Interaction Network for BCKDK

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

    Selected Interacting proteins for BCKDK (O148741, 2, 3 ENSP000002197944) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    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): 4 biological process terms:    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

    Find genes that share ontologies with BCKDK           About GenesLikeMe



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

    Browse Tocris compounds for BCKDK (BCKD)

    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 inferred 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)



    Find genes that share compounds with BCKDK           About GenesLikeMe



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

    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate BCKDK:
    hsa-miR-2355-5p hsa-miR-627 hsa-miR-4290 hsa-miR-548q hsa-miR-107 hsa-miR-3616-3p hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidBCKDK 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

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

    23 DOTS entries:

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

    Selected AceView cDNA sequences (see all 385):

    CR590567 BG491427 CD673340 CR610444 BX367223 AU104858 CR598553 BM550643 
    BI855669 AW246794 CA427223 CA393080 BG251007 AI800653 CR622376 CF243081 
    F06112 CD723221 CR542093 AI205845 BP337771 BG118478 BE794761 BU557036 

    GeneLoc Exon Structure

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

    BCKDK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCKDK Protein Expression

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCKDK

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

    Orthologs for BCKDK gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bckdk1 , 5 branched chain ketoacid dehydrogenase kinase1, 5 87.94(n)1
    95.15(a)1
      7 (69.82 cM)5
    120411  NM_009739.31  NP_033869.11 
     1279040825 
    lizard
    (Anolis carolinensis)
    Reptilia BCKDK6
    branched chain ketoacid dehydrogenase kinase
    83(a)
    1 ↔ 1
    GL343220.1(2194689-2208128)
    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
    PKP11
    45.04(n)1
    31.91(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)
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    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

    Find genes that share paralogs with BCKDK           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BCKDK (see all 208)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0690374
    Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD)4--see VAR_0690372 R P mis40--------
    rs557660441,2
    C--31117698(+) ACCTCC/TGCCTC 3 -- us2k10--------
    rs1905255151,2
    --31117705(+) CCTCCC/TGGGTT 3 -- us2k10--------
    rs1926939251,2
    --31117719(+) GCGATC/TCTTCT 3 -- us2k10--------
    rs1839664291,2
    --31117868(+) TTGGCC/TTCCCA 3 -- us2k10--------
    rs127169811,2
    C,F,A,H--31118024(+) cgagaC/Acccgg 3 -- us2k111Minor allele frequency- A:0.26NS EA NA CSA WA 776
    rs767635111,2
    C--31118027(+) GACCCC/TGGCTC 3 -- us2k10--------
    rs1179914081,2
    F--31118053(+) AGGCAC/TGGTGG 3 -- us2k11Minor allele frequency- T:0.01NA 120
    rs1455312311,2
    C--31118117(+) GGGGG-/AAAAAA 3 -- us2k10--------
    rs1882945901,2
    --31118211(+) AGTGAA/GCTACT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for BCKDK (31117428 - 31124112 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BCKDK:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv905743CNV Loss21882294
    nsv905729CNV Loss21882294
    dgv2670n71CNV Loss21882294
    nsv457483CNV Loss19166990
    dgv2672n71CNV Loss21882294
    nsv833193CNV Gain+Loss17160897

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614901   
    OMIM disorders: 614923  
    UniProtKB/Swiss-Prot: BCKD_HUMAN, O14874
  • 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=The
    disease is caused by mutations affecting the gene represented in this entry. 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

  • 2 diseases for BCKDK:    
    About MalaCards
    branched-chain ketoacid dehydrogenase kinase deficiency    chronic granulomatous disease due to deficiency of ncf-1

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

    Find genes that share disorders with BCKDK           About GenesLikeMe

    Genetic Association Database (GAD): BCKDK
    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)
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    PubMed articles for BCKDK gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with BCKDK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    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. (Genome Res. 2004)
    4. 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. (Genomics 1991)
    5. 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. (Adv. Enzyme Regul. 1990)
    6. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. (PubMed id 22956686)2 Novarino G.... Gleeson J.G. (Science 2012)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10295 HGNC: 16902 AceView: BCKDK Ensembl:ENSG00000103507 euGenes: HUgn10295
    ECgene: BCKDK H-InvDB: BCKDK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BCKDK Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/147

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