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

    Gene ID: 5163, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:8809
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PDK1 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (172555373..172724312)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (173041625..173210788)
    RS_2024_09 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 Sharpr-MPRA regulatory region 14975 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:173245267-173245776 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:173245777-173246288 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55951 Neighboring gene NANOG hESC enhancer GRCh37_chr2:173280388-173280889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12110 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:173293126-173293626 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:173295051-173296250 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:173299510-173300010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:173318135-173318864 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56026 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56072 Neighboring gene ITGA6 and PDK1 antisense RNA 1 Neighboring gene integrin subunit alpha 6 Neighboring gene Sharpr-MPRA regulatory region 994 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:173399678-173400178 Neighboring gene PDK1 and ITGA6 antisense RNA 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:173413559-173414301 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:173414302-173415043 Neighboring gene Sharpr-MPRA regulatory region 4236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12111 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:173456666-173456873 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56189 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56221 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56231 Neighboring gene Sharpr-MPRA regulatory region 7042 Neighboring gene small nucleolar RNA U13 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56260 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56279 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:173577807-173578364 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:173590766-173591266 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:173591267-173591767 Neighboring gene RAPGEF4 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:173607526-173608725 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:173668092-173668282 Neighboring gene Rap guanine nucleotide exchange factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:173770903-173771408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:173771409-173771912 Neighboring gene aldehyde dehydrogenase 7 family member A1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12113 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56377 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56397 Neighboring gene mitogen-activated protein kinase kinase kinase 20 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:174056283-174056864 Neighboring gene MAP3K20 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16764 Neighboring gene VISTA enhancer hs242 Neighboring gene NANOG hESC enhancer GRCh37_chr2:174129200-174129707

    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

    EBI GWAS Catalog

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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pyruvate dehydrogenase (acetyl-transferring) kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables pyruvate dehydrogenase (acetyl-transferring) kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pyruvate dehydrogenase (acetyl-transferring) kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of pyruvate dehydrogenase complex IEA
    Inferred from Electronic Annotation
    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_011509645.1
    XP_011509646.1
    XP_011509647.1
    XP_011509649.1
    XP_047300692.1
    XP_047300693.1
    XP_047300694.1
    XP_047300695.1
    XP_047300696.1
    XP_054198508.1
    XP_054198509.1
    XP_054198510.1
    XP_054198511.1
    XP_054198512.1
    XP_054198513.1
    XP_054198514.1
    XP_054198515.1
    XP_054198516.1
    XP_054198517.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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/TrEMBL
      Q53R49
      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
      B2R6T1, B7Z937, D3DPD8, E9PD65, Q15118, Q308M4
      UniProtKB/TrEMBL
      Q53R49
      Related
      ENSP00000282077.3, ENST00000282077.8
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      172555373..172724312
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511343.3XP_011509645.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011509645.1

      UniProtKB/TrEMBL
      Q53R49
      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_011511345.4XP_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, Q53R49
      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_047444737.1XP_047300693.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X3

    4. XM_047444738.1XP_047300694.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X4

    5. XM_006712594.3XP_006712657.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X6

      Conserved Domains (1) summary
      pfam10436
      Location:56240
      BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
    6. XM_047444740.1XP_047300696.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X7

    7. XM_011511344.3XP_011509646.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011509646.1

      UniProtKB/TrEMBL
      Q53R49
      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
    8. XM_047444736.1XP_047300692.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B7Z7N6, Q53R49
    9. XM_011511347.3XP_011509649.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011509649.1

      UniProtKB/TrEMBL
      Q53R49
      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
    10. XM_047444739.1XP_047300695.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X5

      UniProtKB/TrEMBL
      B7Z207

    RNA

    1. XR_007076395.1 RNA Sequence

    2. XR_007076402.1 RNA Sequence

    3. XR_007076394.1 RNA Sequence

    4. XR_922944.3 RNA Sequence

    5. XR_001738772.3 RNA Sequence

    6. XR_001738774.3 RNA Sequence

    7. XR_001738771.2 RNA Sequence

    8. XR_007076391.1 RNA Sequence

    9. XR_007076393.1 RNA Sequence

    10. XR_007076392.1 RNA Sequence

    11. XR_922942.2 RNA Sequence

    12. XR_922943.2 RNA Sequence

    13. XR_007076398.1 RNA Sequence

    14. XR_007076396.1 RNA Sequence

    15. XR_007076401.1 RNA Sequence

    16. XR_007076403.1 RNA Sequence

    17. XR_007076399.1 RNA Sequence

    18. XR_007076400.1 RNA Sequence

    19. XR_007076397.1 RNA Sequence

    20. XR_922945.1 RNA Sequence

    21. XR_001738775.3 RNA Sequence

    22. XR_427093.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      173041625..173210788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342534.1XP_054198509.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      Q53R49
    2. XM_054342536.1XP_054198511.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B7Z7N6, Q53R49
    3. XM_054342538.1XP_054198513.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X3

    4. XM_054342539.1XP_054198514.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X4

    5. XM_054342541.1XP_054198516.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X6

    6. XM_054342542.1XP_054198517.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X7

    7. XM_054342533.1XP_054198508.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      Q53R49
    8. XM_054342537.1XP_054198512.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B7Z7N6, Q53R49
    9. XM_054342535.1XP_054198510.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      Q53R49
    10. XM_054342540.1XP_054198515.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X5

      UniProtKB/TrEMBL
      B7Z207

    RNA

    1. XR_008486404.1 RNA Sequence

    2. XR_008486405.1 RNA Sequence

    3. XR_008486414.1 RNA Sequence

    4. XR_008486401.1 RNA Sequence

    5. XR_008486411.1 RNA Sequence

    6. XR_008486396.1 RNA Sequence

    7. XR_008486399.1 RNA Sequence

    8. XR_008486403.1 RNA Sequence

    9. XR_008486402.1 RNA Sequence

    10. XR_008486397.1 RNA Sequence

    11. XR_008486398.1 RNA Sequence

    12. XR_008486409.1 RNA Sequence

    13. XR_008486407.1 RNA Sequence

    14. XR_008486413.1 RNA Sequence

    15. XR_008486415.1 RNA Sequence

    16. XR_008486410.1 RNA Sequence

    17. XR_008486412.1 RNA Sequence

    18. XR_008486408.1 RNA Sequence

    19. XR_008486400.1 RNA Sequence

    20. XR_008486406.1 RNA Sequence

    21. XR_008486395.1 RNA Sequence