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    Pdha1 pyruvate dehydrogenase E1 alpha 1 [ Mus musculus (house mouse) ]

    Gene ID: 18597, updated on 3-Nov-2024

    Summary

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    Official Symbol
    Pdha1provided by MGI
    Official Full Name
    pyruvate dehydrogenase E1 alpha 1provided by MGI
    Primary source
    MGI:MGI:97532
    See related
    Ensembl:ENSMUSG00000031299 AllianceGenome:MGI:97532
    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
    Pdha-1
    Summary
    Enables pyruvate dehydrogenase (NAD+) activity. Acts upstream of or within acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Part of catalytic complex. Is expressed in several structures, including alimentary system; brain; heart ventricle; metanephros; and sensory organ. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 147.9), kidney adult (RPKM 68.4) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pdha1 in Genome Data Viewer
    Location:
    X F4; X 73.95 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (158905215..158921426, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (160122219..160138430, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chrX:156088144-156088445 Neighboring gene SH3-domain kinase binding protein 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:156134996-156135149 Neighboring gene STARR-seq mESC enhancer starr_48175 Neighboring gene mitogen-activated protein kinase kinase kinase 15 Neighboring gene cofilin 1, non-muscle pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E7710 Neighboring gene STARR-seq mESC enhancer starr_48178 Neighboring gene predicted gene, 39547 Neighboring gene STARR-seq mESC enhancer starr_48179 Neighboring gene STARR-seq mESC enhancer starr_48180 Neighboring gene predicted gene 15195 Neighboring gene predicted gene 15196

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Imaging brain glucose metabolism in vivo reveals propionate as a major anaplerotic substrate in pyruvate dehydrogenase deficiency. Marin-Valencia I, et al. Cell Metab, 2024 Jun 4. PMID 38838644,
    2. Expression of E1A in terminally differentiated muscle cells reactivates the cell cycle and suppresses tissue-specific genes by separable mechanisms. Tiainen M, et al. Mol Cell Biol, 1996 Oct. PMID 8816442, Free PMC Article
    3. Biochemical and structural brain alterations in female mice with cerebral pyruvate dehydrogenase deficiency. Pliss L, et al. J Neurochem, 2004 Dec. PMID 15569252
    4. ß-Cell-specific pyruvate dehydrogenase deficiency impairs glucose-stimulated insulin secretion. Srinivasan M, et al. Am J Physiol Endocrinol Metab, 2010 Dec. PMID 20841503, Free PMC Article
    5. Cerebral Developmental Abnormalities in a Mouse with Systemic Pyruvate Dehydrogenase Deficiency. Pliss L, et al. PLoS One, 2013. PMID 23840713, Free PMC Article

    See all (108) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PPP3CB Inhibits Cell Proliferation and the Warburg Effect in Bladder Cancer by Blocking PDHK1.
      Title: PPP3CB Inhibits Cell Proliferation and the Warburg Effect in Bladder Cancer by Blocking PDHK1.
    2. Reprogramming of aerobic glycolysis in non-transformed mouse liver with pyruvate dehydrogenase complex deficiency.
      Title: Reprogramming of aerobic glycolysis in non-transformed mouse liver with pyruvate dehydrogenase complex deficiency.
    3. Conditional knockout of pyruvate dehydrogenase in mouse pancreatic betacells causes morphological and functional changes.
      Title: Conditional knockout of pyruvate dehydrogenase in mouse pancreatic β‑cells causes morphological and functional changes.
    4. Phosphorylation of PDHA by AMPK Drives TCA Cycle to Promote Cancer Metastasis.
      Title: Phosphorylation of PDHA by AMPK Drives TCA Cycle to Promote Cancer Metastasis.
    5. Silencing Sik2 further diminished SIRT3 activity and enhanced acetylation of PDHA1 K83 level. Reconstruction of SIRT3 restored PDH activity and thermogenic markers expression in differentiated brown adipocytes from SIRT3 knockout (KO) mice
      Title: Sirtuin 3-mediated pyruvate dehydrogenase activity determines brown adipocytes phenotype under high-salt conditions.
    6. exercise capacity during high-intensity exercise was severely impaired in PDHmKO mice, in parallel with a large increase in plasma lactate concentration.
      Title: Defining the contribution of skeletal muscle pyruvate dehydrogenase α1 to exercise performance and insulin action.
    7. Both mitochondrial and nuclear Pyruvate dehydrogenase complex sustain prostate tumorigenesis by controlling lipid biosynthesis, thus suggesting this complex as a potential target for cancer therapy.
      Title: Compartmentalized activities of the pyruvate dehydrogenase complex sustain lipogenesis in prostate cancer.
    8. The genetic deletion of the Grx2 gene was associated with increased protein expression of pyruvate dehydrogenase (PDH) but not 2-oxoglutarate dehydrogenase (OGDH).
      Title: Characterization of the impact of glutaredoxin-2 (GRX2) deficiency on superoxide/hydrogen peroxide release from cardiac and liver mitochondria.
    9. Cardiac PDH E1alpha deficiency impairs ischemic AMP-activated protein kinase signaling and sensitizes hearts to the toxicological actions of ischemic stress.
      Title: Cardiac-Specific Deletion of the Pdha1 Gene Sensitizes Heart to Toxicological Actions of Ischemic Stress.
    10. Taken together, our results indicate that the redox sensing and ROS forming properties of Pdh and Ogdh are linked to S-glutathionylation
      Title: Protein S-glutathionylation alters superoxide/hydrogen peroxide emission from pyruvate dehydrogenase complex.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables pyruvate dehydrogenase (NAD+) activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables pyruvate dehydrogenase (acetyl-transferring) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables pyruvate dehydrogenase (acetyl-transferring) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to pyruvate dehydrogenase (acetyl-transferring) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyruvate dehydrogenase (acetyl-transferring) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyruvate dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acetyl-CoA biosynthetic process from pyruvate IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within acetyl-CoA biosynthetic process from pyruvate IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in acetyl-CoA biosynthetic process from pyruvate ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in acetyl-CoA biosynthetic process from pyruvate ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of catalytic complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in myelin sheath HDA PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of pyruvate dehydrogenase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of pyruvate dehydrogenase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
    Names
    PDHE1-A type I
    pyruvate dehydrogenase E1alpha subunit
    NP_032836.1

    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_008810.3 → NP_032836.1  pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor

      See identical proteins and their annotated locations for NP_032836.1

      Status: VALIDATED

      Source sequence(s)
      AK148459, BQ177075, BY783593
      Consensus CDS
      CCDS41195.1
      UniProtKB/Swiss-Prot
      P35486
      UniProtKB/TrEMBL
      Q3UFJ3
      Related
      ENSMUSP00000033662.9, ENSMUST00000033662.9
      Conserved Domains (1) summary
      TIGR03182
      Location:58 → 370
      PDH_E1_alph_y; pyruvate dehydrogenase E1 component, alpha subunit

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      158905215..158921426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35486.1 GenPept UniProtKB/Swiss-Prot:P35486

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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