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    Pdk1 pyruvate dehydrogenase kinase, isoenzyme 1 [ Mus musculus (house mouse) ]

    Gene ID: 228026, updated on 24-Dec-2024

    Summary

    Official Symbol
    Pdk1provided by MGI
    Official Full Name
    pyruvate dehydrogenase kinase, isoenzyme 1provided by MGI
    Primary source
    MGI:MGI:1926119
    See related
    Ensembl:ENSMUSG00000006494 AllianceGenome:MGI:1926119
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    B830012B01; D530020C15Rik
    Summary
    Predicted to enable ATP binding activity; identical protein binding activity; and protein kinase activity. Involved in regulation of acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Part of pyruvate dehydrogenase complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; limb mesenchyme; and sensory organ. Orthologous to human PDK1 (pyruvate dehydrogenase kinase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Annotation information
    Note: Pdk1 (Gene ID: 228026) and Pdpk1 (Gene ID: 18607) share the Pdk1 symbol/alias in common. Pdk1 is a widely used alternative name for 3-phosphoinositide dependent protein kinase 1 (Pdpk1), which can be confused with the official symbol for pyruvate dehydrogenase kinase, isoenzyme 1 (Pdk1). [03 Apr 2019]
    Expression
    Ubiquitous expression in heart adult (RPKM 12.2), thymus adult (RPKM 9.7) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Pdk1 in Genome Data Viewer
    Location:
    2 C3; 2 42.84 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (71703398..71734202)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (71873215..71903858)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene ribosomal protein S7 pseudogene Neighboring gene integrin alpha 6 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:71652164-71652396 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:71704749-71704932 Neighboring gene STARR-seq mESC enhancer starr_04811 Neighboring gene predicted gene, 46785 Neighboring gene predicted gene, 39845

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Gene trapped (1) 
    • Targeted (5)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • D530020C15Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables pyruvate dehydrogenase (acetyl-transferring) kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables pyruvate dehydrogenase (acetyl-transferring) kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables pyruvate dehydrogenase (acetyl-transferring) kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell surface receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in hypoxia-inducible factor-1alpha signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in hypoxia-inducible factor-1alpha signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within intracellular signal transduction ISA
    Inferred from Sequence Alignment
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of acetyl-CoA biosynthetic process from pyruvate IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of acetyl-CoA biosynthetic process from pyruvate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of glucose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of glucose metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of glucose metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISA
    Inferred from Sequence Alignment
    more info
     
    part_of pyruvate dehydrogenase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of pyruvate dehydrogenase complex ISO
    Inferred from Sequence Orthology
    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
    [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial
    pyruvate dehydrogenase kinase, isozyme 1
    NP_001346931.1
    NP_766253.2
    XP_011237746.1
    XP_011237747.1
    XP_011237748.1

    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_001360002.1NP_001346931.1  [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the use of an alternate promoter, resulting in a novel 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL928963
      UniProtKB/TrEMBL
      Q8R2U8
      Conserved Domains (2) summary
      smart00387
      Location:192312
      HATPase_c; Histidine kinase-like ATPases
      pfam10436
      Location:1142
      BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
    2. NM_172665.5NP_766253.2  [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_766253.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK046805, AK153649, AK165090, BE994546
      Consensus CDS
      CCDS16119.1
      UniProtKB/Swiss-Prot
      Q3U5E5, Q8BFP9
      UniProtKB/TrEMBL
      Q8R2U8
      Related
      ENSMUSP00000006669.6, ENSMUST00000006669.6
      Conserved Domains (3) summary
      smart00387
      Location:268388
      HATPase_c; Histidine kinase-like ATPases
      COG0642
      Location:268396
      BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]
      pfam10436
      Location:56218
      BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      71703398..71734202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011239444.3XP_011237746.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      Q8R2U8
      Conserved Domains (2) summary
      cd16929
      Location:259425
      HATPase_PDK-like; Histidine kinase-like ATPase domain of pyruvate dehydrogenase kinase, branched-chain alpha-ketoacid dehydrogenase kinase and related domains
      pfam10436
      Location:56255
      BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
    2. XM_011239445.4XP_011237747.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_011237747.1

      UniProtKB/TrEMBL
      Q8R2U8
      Conserved Domains (2) summary
      cd16929
      Location:183349
      HATPase_PDK-like; Histidine kinase-like ATPase domain of pyruvate dehydrogenase kinase, branched-chain alpha-ketoacid dehydrogenase kinase and related domains
      pfam10436
      Location:2179
      BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
    3. XM_011239446.4XP_011237748.1  pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_011237748.1

      UniProtKB/TrEMBL
      Q8R2U8
      Conserved Domains (2) summary
      cd16929
      Location:183349
      HATPase_PDK-like; Histidine kinase-like ATPase domain of pyruvate dehydrogenase kinase, branched-chain alpha-ketoacid dehydrogenase kinase and related domains
      pfam10436
      Location:2179
      BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

    RNA

    1. XR_003952294.2 RNA Sequence