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: +
Position: hg19 chr16:31,120,545-31,123,586 Size: 3,042 Coding Exon Count: 11
Data last updated: 2013-06-14
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; EC=220.127.116.11; 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. TISSUE SPECIFICITY: Ubiquitous. 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:
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
IPR018955 - BCDHK/PDK_N
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
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 18.104.22.168). 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 (EC22.214.171.124). 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
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
(aka BCKD_HUMAN) O14874
Gene Model Information
12 CDS single in 3' UTR:
1239 CDS single in intron:
Alignment % ID:
2531.00 frame shift in genome:
has start codon:
stop codon in genome:
# of Alignments:
has end codon:
# AT/AC introns
end bleed into intron:
0 # strange splices:
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
for details on how this gene model was made and data restrictions if any.