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

Gene ID: 5163, updated on 30-Aug-2020

Summary

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
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

Genomic context

See PDK1 in Genome Data Viewer
Location:
2q31.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 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 integrin subunit alpha 6 Neighboring gene ITGA6 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 4236 Neighboring gene RAPGEF4 antisense RNA 1 Neighboring gene Rap guanine nucleotide exchange factor 4 Neighboring gene aldehyde dehydrogenase 7 family member A1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
GeneReviews: Not available
Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
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 homeostasis IBA
Inferred from Biological aspect of Ancestor
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 
negative regulation of pyruvate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001278549.2NP_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, ENST00000392571.6
    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_002610.5NP_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
    Consensus CDS
    CCDS2250.1
    UniProtKB/Swiss-Prot
    Q15118
    Related
    ENSP00000282077.2, ENST00000282077.7
    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_103729.2 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)
    AC018712, 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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 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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