Human Gene BCKDK (uc002eaw.5) Description and Page Index
  Description: Homo sapiens branched chain ketoacid dehydrogenase kinase (BCKDK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_005881): 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].
Transcript (Including UTRs)
   Position: hg19 chr16:31,119,615-31,124,112 Size: 4,498 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr16:31,120,545-31,123,586 Size: 3,042 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:31,119,615-31,124,112)mRNA (may differ from genome)Protein (412 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; EC=; AltName: Full=Branched-chain alpha-ketoacid dehydrogenase kinase; Short=BCKD-kinase; Short=BCKDHKIN; Flags: Precursor;
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.
SUBUNIT: Monomer (By similarity).
INTERACTION: P40763:STAT3; NbExp=2; IntAct=EBI-1046765, EBI-518675;
SUBCELLULAR LOCATION: Mitochondrion matrix.
PTM: Autophosphorylated (By similarity).
SIMILARITY: Belongs to the PDK/BCKDK protein kinase family.
SIMILARITY: Contains 1 histidine kinase domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BCKDK
CDC HuGE Published Literature: BCKDK

-  MalaCards Disease Associations
  MalaCards Gene Search: BCKDK
Diseases sorted by gene-association score: branched-chain ketoacid dehydrogenase kinase deficiency* (1681), maple syrup urine disease, type ii (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.72 RPKM in Adrenal Gland
Total median expression: 906.84 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -163.90363-0.452 Picture PostScript Text
3' UTR -211.70526-0.402 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003594 - ATPase-like_ATP-bd
IPR004358 - Sig_transdc_His_kin-like_C
IPR005467 - Sig_transdc_His_kinase_core

Pfam Domains:
PF02518 - Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
PF10436 - Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

SCOP Domains:
69012 - alpha-ketoacid dehydrogenase kinase, N-terminal domain
55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase

ModBase Predicted Comparative 3D Structure on O14874
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
 Protein SequenceProtein Sequence  Protein Sequence
 AlignmentAlignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0047323 [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity

Biological Process:
GO:0006468 protein phosphorylation
GO:0009063 cellular amino acid catabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0016310 phosphorylation

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex

-  Descriptions from all associated GenBank mRNAs
  BC007363 - Homo sapiens branched chain ketoacid dehydrogenase kinase, mRNA (cDNA clone MGC:16138 IMAGE:3630050), complete cds.
AK130145 - Homo sapiens cDNA FLJ26635 fis, clone MPC07771, highly similar to [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial precursor (EC
AF026548 - Homo sapiens branched chain alpha-ketoacid dehydrogenase kinase precursor, mRNA, nuclear gene encoding mitochondrial protein, complete cds.
BC009872 - Homo sapiens branched chain ketoacid dehydrogenase kinase, mRNA (cDNA clone MGC:16430 IMAGE:3944953), complete cds.
JD444493 - Sequence 425517 from Patent EP1572962.
JD479465 - Sequence 460489 from Patent EP1572962.
JD133758 - Sequence 114782 from Patent EP1572962.
JD227789 - Sequence 208813 from Patent EP1572962.
JD335858 - Sequence 316882 from Patent EP1572962.
AK294691 - Homo sapiens cDNA FLJ60500 complete cds, highly similar to 3-methyl-2-oxobutanoate dehydrogenase (lipoamide) kinase (EC2.7.11.4).
CU675637 - Synthetic construct Homo sapiens gateway clone IMAGE:100019284 5' read BCKDK mRNA.
CU679519 - Synthetic construct Homo sapiens gateway clone IMAGE:100018131 5' read BCKDK mRNA.
KJ902084 - Synthetic construct Homo sapiens clone ccsbBroadEn_11478 BCKDK gene, encodes complete protein.
DQ893687 - Synthetic construct clone IMAGE:100006317; FLH195108.01X; RZPDo839F0983D branched chain ketoacid dehydrogenase kinase (BCKDK) gene, encodes complete protein.
AB528557 - Synthetic construct DNA, clone: pF1KB5307, Homo sapiens BCKDK gene for branched chain ketoacid dehydrogenase kinase, without stop codon, in Flexi system.
CR542093 - Homo sapiens full open reading frame cDNA clone RZPDo834A0637D for gene BCKDK, branched chain alpha-ketoacid dehydrogenase kinase; complete cds, without stopcodon.
KJ892997 - Synthetic construct Homo sapiens clone ccsbBroadEn_02391 BCKDK gene, encodes complete protein.
KJ905389 - Synthetic construct Homo sapiens clone ccsbBroadEn_14959 BCKDK gene, encodes complete protein.
DQ896864 - Synthetic construct Homo sapiens clone IMAGE:100011324; FLH195104.01L; RZPDo839B0983D branched chain ketoacid dehydrogenase kinase (BCKDK) gene, encodes complete protein.
JD565556 - Sequence 546580 from Patent EP1572962.
JD365812 - Sequence 346836 from Patent EP1572962.
JD188263 - Sequence 169287 from Patent EP1572962.
JD191145 - Sequence 172169 from Patent EP1572962.
JD316275 - Sequence 297299 from Patent EP1572962.
JD540703 - Sequence 521727 from Patent EP1572962.
JD412257 - Sequence 393281 from Patent EP1572962.
JD293776 - Sequence 274800 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O14874 (Reactome details) participates in the following event(s):

R-HSA-5693148 BCKDK phosphorylates BCKDH
R-HSA-70895 Branched-chain amino acid catabolism
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: BCKD_HUMAN, NM_005881, NP_005872, O14874, Q6FGL4, Q96IN5, uc002eaw.4
UCSC ID: uc002eaw.5
RefSeq Accession: NM_005881
Protein: O14874 (aka BCKD_HUMAN)
CCDS: CCDS10705.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_005881.3
exon count: 12CDS single in 3' UTR: no RNA size: 2144
ORF size: 1239CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2531.00frame shift in genome: no % Coverage: 99.25
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.