Human Gene PDK1 (ENST00000282077.8_8) from GENCODE V47lift37
  Description: pyruvate dehydrogenase kinase 1, transcript variant 2 (from RefSeq NM_002610.5)
Gencode Transcript: ENST00000282077.8_8
Gencode Gene: ENSG00000152256.14_9
Transcript (Including UTRs)
   Position: hg19 chr2:173,420,818-173,473,397 Size: 52,580 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr2:173,420,879-173,460,697 Size: 39,819 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:173,420,818-173,473,397)mRNA (may differ from genome)Protein (436 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PDK1_HUMAN
DESCRIPTION: RecName: Full=[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial; EC=2.7.11.2; AltName: Full=Pyruvate dehydrogenase kinase isoform 1; Flags: Precursor;
FUNCTION: Inhibits the mitochondrial pyruvate dehydrogenase complex by phosphorylation of the E1 alpha subunit, thus contributing to the regulation of glucose metabolism.
CATALYTIC ACTIVITY: ATP + [pyruvate dehydrogenase (acetyl- transferring)] = ADP + [pyruvate dehydrogenase (acetyl- transferring)] phosphate.
ENZYME REGULATION: Inhibited by AZD7545, dichloroacetate and radicicol.
SUBCELLULAR LOCATION: Mitochondrion matrix.
TISSUE SPECIFICITY: Expressed predominantly in the heart.
SIMILARITY: Belongs to the PDK/BCKDK protein kinase family.
SIMILARITY: Contains 1 histidine kinase domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PDK1
Diseases sorted by gene-association score: chronic mountain sickness (2)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.82 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 77.69 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.1061-0.330 Picture PostScript Text
3' UTR -3447.8012700-0.271 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
IPR018955 - BCDHK/PDK_N
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

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2Q8F - X-ray MuPIT 2Q8G - X-ray MuPIT 2Q8H - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15118
FrontTopSide
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006006 glucose metabolic process
GO:0006468 protein phosphorylation
GO:0008283 cell proliferation
GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate
GO:0010906 regulation of glucose metabolic process
GO:0016310 phosphorylation
GO:0097411 hypoxia-inducible factor-1alpha signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005967 mitochondrial pyruvate dehydrogenase complex


-  Descriptions from all associated GenBank mRNAs
  L42450 - Homo sapiens pyruvate dehydrogenase kinase (PDK1) mRNA, complete cds.
AK302321 - Homo sapiens cDNA FLJ51565 complete cds, highly similar to Pyruvate dehydrogenase (lipoamide) kinase isozyme 1 (EC 2.7.11.2).
AK294194 - Homo sapiens cDNA FLJ51566 complete cds, highly similar to Pyruvate dehydrogenase (lipoamide) kinase isozyme 1 (EC 2.7.11.2).
AK312700 - Homo sapiens cDNA, FLJ93099, Homo sapiens pyruvate dehydrogenase kinase, isoenzyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.
AK304388 - Homo sapiens cDNA FLJ53961 complete cds, highly similar to Pyruvate dehydrogenase (lipoamide) kinase isozyme 1 (EC 2.7.11.2).
BC039158 - Homo sapiens pyruvate dehydrogenase kinase, isozyme 1, mRNA (cDNA clone MGC:24867 IMAGE:4778360), complete cds.
AB528474 - Synthetic construct DNA, clone: pF1KB6678, Homo sapiens PDK1 gene for pyruvate dehydrogenase kinase, isozyme 1, without stop codon, in Flexi system.
CU691664 - Synthetic construct Homo sapiens gateway clone IMAGE:100019387 5' read PDK1 mRNA.
KJ891771 - Synthetic construct Homo sapiens clone ccsbBroadEn_01165 PDK1 gene, encodes complete protein.
KJ905252 - Synthetic construct Homo sapiens clone ccsbBroadEn_14737 PDK1 gene, encodes complete protein.
DQ894484 - Synthetic construct Homo sapiens clone IMAGE:100008944; FLH170884.01L; RZPDo839C0999D pyruvate dehydrogenase kinase, isozyme 1 (PDK1) gene, encodes complete protein.
DQ896668 - Synthetic construct Homo sapiens clone IMAGE:100011128; FLH196477.01L; RZPDo839D11155D pyruvate dehydrogenase kinase, isozyme 1 (PDK1) gene, encodes complete protein.
DQ891300 - Synthetic construct clone IMAGE:100003930; FLH170887.01X; RZPDo839C09100D pyruvate dehydrogenase kinase, isozyme 1 (PDK1) gene, encodes complete protein.
DQ893348 - Synthetic construct clone IMAGE:100005978; FLH196481.01X; RZPDo839D11156D pyruvate dehydrogenase kinase, isozyme 1 (PDK1) gene, encodes complete protein.
DQ234350 - Homo sapiens mitochondrial pyruvate dehydrogenase kinase isoenzyme 1 mRNA, complete cds, alternatively spliced; nuclear gene for mitochondrial product.
AK056110 - Homo sapiens cDNA FLJ31548 fis, clone NT2RI2001017.
JD548784 - Sequence 529808 from Patent EP1572962.
JD455935 - Sequence 436959 from Patent EP1572962.
JD385843 - Sequence 366867 from Patent EP1572962.
JD111224 - Sequence 92248 from Patent EP1572962.
JD321199 - Sequence 302223 from Patent EP1572962.
JD388587 - Sequence 369611 from Patent EP1572962.
JD388588 - Sequence 369612 from Patent EP1572962.
JD138481 - Sequence 119505 from Patent EP1572962.
JD066846 - Sequence 47870 from Patent EP1572962.
JD176575 - Sequence 157599 from Patent EP1572962.
JD184236 - Sequence 165260 from Patent EP1572962.
JD093127 - Sequence 74151 from Patent EP1572962.
JD561549 - Sequence 542573 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_eif4Pathway - Regulation of eIF4e and p70 S6 Kinase
h_mTORPathway - mTOR Signaling Pathway
h_ptdinsPathway - Phosphoinositides and their downstream targets.
h_igf1mtorpathway - Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway
h_gsk3Pathway - Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages
h_ptenPathway - PTEN dependent cell cycle arrest and apoptosis
h_aktPathway - AKT Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein Q15118 (Reactome details) participates in the following event(s):

R-HSA-203946 PDK isoforms phosphorylate lipo-PDH
R-HSA-204174 Regulation of pyruvate dehydrogenase (PDH) complex
R-HSA-5362517 Signaling by Retinoic Acid
R-HSA-70268 Pyruvate metabolism
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle
R-HSA-162582 Signal Transduction
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R6T1, B7Z937, D3DPD8, E9PD65, ENST00000282077.1, ENST00000282077.2, ENST00000282077.3, ENST00000282077.4, ENST00000282077.5, ENST00000282077.6, ENST00000282077.7, NM_002610, PDHK1, PDK1_HUMAN, Q15118, Q308M4, uc317jyh.1, uc317jyh.2
UCSC ID: ENST00000282077.8_8
RefSeq Accession: NM_002610.5
Protein: Q15118 (aka PDK1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.