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

Gene ID: 5163, updated on 1-Jul-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
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Genomic context

See PDK1 in Genome Data Viewer
Location:
2q31.1
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (172555373..172724312)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (173041625..173210788)
105.20220307 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 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

Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
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)

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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_2023_10

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