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PDK1 pyruvate dehydrogenase kinase 1 [ Homo sapiens (human) ]

Gene ID: 5163, updated on 9-Jun-2018
Official Symbol
PDK1provided by HGNC
Official Full Name
pyruvate dehydrogenase kinase 1provided by HGNC
Primary source
HGNC:HGNC:8809
See related
Ensembl:ENSG00000152256 MIM:602524; Vega:OTTHUMG00000132285
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]
Annotation information
Note: PDK1 (Gene ID: 5163) and PDPK1 (Gene ID: 5170) share the PDK1 symbol/alias in common. PDK1 is a widely used alternative name for 3-phosphoinositide dependent protein kinase 1 (PDPK1). [01 Jun 2018]
Expression
Ubiquitous expression in heart (RPKM 4.7), adrenal (RPKM 4.3) and 25 other tissues See more
Orthologs
See PDK1 in Genome Data Viewer
Location:
2q31.1
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (172555373..172672698)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (173420101..173490351)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985960 Neighboring gene uncharacterized LOC105373742 Neighboring gene uncharacterized LOC101929947 Neighboring gene integrin subunit alpha 6 Neighboring gene RAPGEF4 antisense RNA 1 Neighboring gene Rap guanine nucleotide exchange factor 4 Neighboring gene aldehyde dehydrogenase 7 family member A1 pseudogene 2

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
NHGRI GWA Catalog
Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat induces phosphorylation of PDK1 in Tat-expressing cells and HIV-1-infected cells PubMed

Go to the HIV-1, Human Interaction Database

  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
    Central carbon metabolism in cancer, organism-specific biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Central carbon metabolism in cancer, conserved biosystem (from KEGG)
    Central carbon metabolism in cancer, conserved biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • DNA Damage Response (only ATM dependent), organism-specific biosystem (from WikiPathways)
    DNA Damage Response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
  • EPO Receptor Signaling, organism-specific biosystem (from WikiPathways)
    EPO Receptor Signaling, organism-specific biosystemThe erythropoietin receptor is a 66 kDa peptide and is a member of the cytokine receptor family. The receptor is tyrosine phosphorylated upon binding by erythropoietin and associates with and activat...
  • ErbB Signaling Pathway, organism-specific biosystem (from WikiPathways)
    ErbB Signaling Pathway, organism-specific biosystemThe ErbB protein family or epidermal growth factor receptor (EGFR) family is a family of four structurally related receptor tyrosine kinases. Insufficient ErbB signaling in humans is associated with ...
  • Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling, organism-specific biosystem (from WikiPathways)
    Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling, organism-specific biosystemThe signaling pathway that involves insulin-like growth factor 1 (IGF1), and a variety of other components that affect the pathway, plays an important role in the regulation of skeletal muscle growth...
  • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
    HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • PI3K-AKT-mTOR signaling pathway and therapeutic opportunities, organism-specific biosystem (from WikiPathways)
    PI3K-AKT-mTOR signaling pathway and therapeutic opportunities, organism-specific biosystemThis pathway is based on figure 1 from Merritt et al. (See Bibliography). The PI3K-AKT-mTOR signaling pathway has been shown to have a significant correlation with the development of castration-resis...
  • Pyruvate metabolism, organism-specific biosystem (from REACTOME)
    Pyruvate metabolism, organism-specific biosystemPyruvate sits at an intersection of key pathways of energy metabolism. It is the end product of glycolysis and the starting point for gluconeogenesis, and can be generated by transamination of alanin...
  • Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystem (from REACTOME)
    Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystemPyruvate metabolism and the citric acid (TCA) cycle together link the processes of energy metabolism in a human cell with one another and with key biosynthetic reactions. Pyruvate, derived from the r...
  • Regulation of pyruvate dehydrogenase (PDH) complex, organism-specific biosystem (from REACTOME)
    Regulation of pyruvate dehydrogenase (PDH) complex, organism-specific biosystemThe mitochondrial pyruvate dehydrogenase (PDH) complex catalyzes the oxidative decarboxylation of pyruvate, linking glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. PDH inactivati...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Retinoic Acid, organism-specific biosystem (from REACTOME)
    Signaling by Retinoic Acid, organism-specific biosystemVitamin A (retinol) can be metabolised into active retinoid metabolites that function either as a chromophore in vision or in regulating gene expression transcriptionally and post-transcriptionally. ...
  • T-Cell Receptor and Co-stimulatory Signaling, organism-specific biosystem (from WikiPathways)
    T-Cell Receptor and Co-stimulatory Signaling, organism-specific biosystemThe activation and translocation of transcription factors NFAT, AP-1 and NF-kappa-B via the co-stimulatory signaling cascade triggered by MHC peptide, B7 proteins and PD-L1. The activation of NFAT in...
  • T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection, organism-specific biosystem (from WikiPathways)
    T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection, organism-specific biosystemThis pathway is based on Figure 4 of "A Model of an Integrated Immune System Pathway in Homo sapiens and Its Interaction with Superantigen Producing Expression Regulatory Pathway in Staphylococcus au...
  • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
  • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
    The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
pyruvate dehydrogenase (acetyl-transferring) kinase activity EXP
Inferred from Experiment
more info
PubMed 
pyruvate dehydrogenase (acetyl-transferring) kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
pyruvate dehydrogenase (acetyl-transferring) kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
hypoxia-inducible factor-1alpha signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
intrinsic apoptotic signaling pathway in response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of acetyl-CoA biosynthetic process from pyruvate TAS
Traceable Author Statement
more info
 
regulation of glucose metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial pyruvate dehydrogenase complex IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial; pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial
Names
PDH kinase 1
mitochondrial pyruvate dehydrogenase, lipoamide, kinase isoenzyme 1
pyruvate dehydrogenase kinase, isoenzyme 1
NP_001265478.1
NP_002601.1
XP_006712657.1
XP_006712658.1
XP_011509645.1
XP_011509646.1
XP_011509647.1
XP_011509649.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001278549.1NP_001265478.1  [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC018712, AK304388, BQ023252, DC322401
    Consensus CDS
    CCDS63059.1
    UniProtKB/Swiss-Prot
    Q15118
    Related
    ENSP00000376352.2, OTTHUMP00000205077, ENST00000392571.6, OTTHUMT00000333902
    Conserved Domains (3) summary
    smart00387
    Location:290410
    HATPase_c; Histidine kinase-like ATPases
    COG0642
    Location:244418
    BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]
    pfam10436
    Location:56240
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  2. NM_002610.4NP_002601.1  [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_002601.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC018712, AK312700, BQ023252, DC322401
    Consensus CDS
    CCDS2250.1
    UniProtKB/Swiss-Prot
    Q15118
    Related
    ENSP00000282077.2, OTTHUMP00000163127, ENST00000282077.7, OTTHUMT00000255380
    Conserved Domains (2) summary
    smart00387
    Location:270390
    HATPase_c; Histidine kinase-like ATPases
    pfam10436
    Location:56220
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

RNA

  1. NR_103729.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon and has a split 3' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC039158, BQ023252, DC322401
  2. NR_103731.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains alternate 5' and 3' sequences and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093818, AK302321, BX485353

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    172555373..172672698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511343.2XP_011509645.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011509645.1

    Conserved Domains (3) summary
    smart00387
    Location:214334
    HATPase_c; Histidine kinase-like ATPases
    COG0642
    Location:168342
    BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]
    pfam10436
    Location:2164
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  2. XM_011511345.3XP_011509647.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_011509647.1

    UniProtKB/TrEMBL
    B7Z7N6
    Conserved Domains (3) summary
    smart00387
    Location:194314
    HATPase_c; Histidine kinase-like ATPases
    COG0642
    Location:148322
    BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]
    pfam10436
    Location:2144
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  3. XM_006712594.2XP_006712657.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X3

    Conserved Domains (1) summary
    pfam10436
    Location:56240
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  4. XM_011511344.2XP_011509646.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011509646.1

    Conserved Domains (3) summary
    smart00387
    Location:214334
    HATPase_c; Histidine kinase-like ATPases
    COG0642
    Location:168342
    BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]
    pfam10436
    Location:2164
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  5. XM_011511347.2XP_011509649.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011509649.1

    Conserved Domains (3) summary
    smart00387
    Location:214334
    HATPase_c; Histidine kinase-like ATPases
    COG0642
    Location:168342
    BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]
    pfam10436
    Location:2164
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  6. XM_006712595.3XP_006712658.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X4

    Conserved Domains (2) summary
    smart00387
    Location:78198
    HATPase_c; Histidine kinase-like ATPases
    COG0642
    Location:32206
    BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]

RNA

  1. XR_001738774.2 RNA Sequence

  2. XR_001738775.2 RNA Sequence

  3. XR_427095.3 RNA Sequence

  4. XR_001738772.2 RNA Sequence

  5. XR_922944.2 RNA Sequence

  6. XR_001738771.1 RNA Sequence

  7. XR_922942.2 RNA Sequence

  8. XR_001738773.1 RNA Sequence

  9. XR_922943.2 RNA Sequence

  10. XR_922945.1 RNA Sequence

  11. XR_427093.3 RNA Sequence

  12. XR_001738776.1 RNA Sequence

  13. XR_427094.1 RNA Sequence

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