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Pdk1 Gene Detail
Summary
  • Symbol
    Pdk1
  • Name
    pyruvate dehydrogenase kinase, isoenzyme 1
  • Synonyms
    D530020C15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1926119
    NCBI Gene: 228026
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:71703568-71734202 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 2, 42.84 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    988 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1926119
protein coding gene Chr2:71703398-71734202 (+)
129S1/SvImJ ENSMUSG00200036774
protein coding gene Chr2:68777110-68807453 (+)
A/J ENSMUSG00195020632
protein coding gene Chr2:68924989-68956128 (+)
AKR/J ENSMUSG00220038069
protein coding gene Chr2:68889681-68920820 (+)
BALB/cJ ENSMUSG00180036676
protein coding gene Chr2:68878794-68909936 (+)
C3H/HeJ ENSMUSG00175032217
protein coding gene Chr2:68992068-69022707 (+)
C57BL/6NJ ENSMUSG00215018602
protein coding gene Chr2:68813983-68844620 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023649
protein coding gene Chr2:66431060-66462878 (+)
CAST/EiJ ENSTCUG00005008359
protein coding gene Chr2:68301359-68332548 (+)
CBA/J ENSMUSG00210034198
protein coding gene Chr2:69034845-69065483 (+)
DBA/2J ENSMUSG00185040245
protein coding gene Chr2:68870583-68901222 (+)
FVB/NJ ENSMUSG00205024675
protein coding gene Chr2:68335090-68366229 (+)
JF1/MsJ ENSUMUG00000004590
protein coding gene Chr2:68534681-68565821 (+)
LP/J ENSMUSG00230020268
protein coding gene Chr2:70678378-70709517 (+)
NOD/ShiLtJ ENSMUSG00190029881
protein coding gene Chr2:68957943-68989080 (+)
NZO/HlLtJ ENSMUSG00225014976
protein coding gene Chr2:78418150-78450678 (+)
PWK/PhJ ENSLUMG00010029250
protein coding gene Chr2:68766853-68798008 (+)
SPRET/EiJ ENSMSPG00010033405
protein coding gene Chr2:70165547-70196577 (+)
WSB/EiJ ENSIUOG00005017824
protein coding gene Chr2:68998964-69029576 (+)



Homology
more
  • Human Ortholog
    PDK1, pyruvate dehydrogenase kinase 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PDK1, pyruvate dehydrogenase kinase 1
  • Links
    NCBI Gene ID: 5163
    UniProt: Q15118

  • Chr Location
    2q31.1; chr2:172555373-172724312 (+)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 3 alleles in 3 genetic backgrounds
    8 phenotypes from multigenic genotypes
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit normal skeletal development, are viable, and exhibit normal fertility. Mice lacking all 4 Pdk family members exhibit disrupted energy metabolic balance.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000006494 Ensembl Gene Model | MGI Sequence Detail 30635 C57BL/6J ±  kb
    transcript ENSMUST00000006669 Ensembl | MGI Sequence Detail 5185 Not Applicable  
    polypeptide ENSMUSP00000006669 Ensembl | MGI Sequence Detail 434 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000012504 [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial
    • EC
    • InterPro Domains
      IPR036784 Alpha-ketoacid/pyruvate dehydrogenase kinase, N-terminal domain superfamily
      IPR018955 Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal
      IPR005467 Histidine kinase domain
      IPR003594 Histidine kinase/HSP90-like ATPase domain
      IPR036890 Histidine kinase/HSP90-like ATPase superfamily
      IPR039028 PDK/BCKDK protein kinase
    • GlyGen
      Q8BFP9 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 147
      cDNA 143
      Primer pair 4
      Antibodies 2

      Microarray probesets 5
    References
    more
    • Summaries
      All 119
      Developmental Gene Expression 24
      Gene Ontology 14
      Phenotypes 34
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:375899 Hanashima A, et al., CCDC141 is a Connectin/Titin and Nesprin-1 binding protein that adapts cardiomyocytes to mechanical stress. Commun Biol. 2025 Nov 26;8(1):1693

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    09/08/2026
    MGI 6.24
    The Jackson Laboratory