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

Gene ID: 18597, updated on 11-Apr-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 mitochondrial acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Is expressed in several structures, including alimentary system; metanephros; nervous system; respiratory system; 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, Apr 2022]
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
  • 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. Pyruvate dehydrogenase fuels a critical citrate pool that is essential for Th17 cell effector functions. Soriano-Baguet L, et al. Cell Rep, 2023 Mar 28. PMID 36848289
  2. Conditional Knockout of Pdha1 in Mouse Hippocampus Impairs Cognitive Function: The Possible Involvement of Lactate. Chen W, et al. Front Neurosci, 2021. PMID 34720870, Free PMC Article
  3. Reprogramming of aerobic glycolysis in non-transformed mouse liver with pyruvate dehydrogenase complex deficiency. Patel MS, et al. Physiol Rep, 2021 Jan. PMID 33400855, Free PMC Article
  4. Conditional knockout of pyruvate dehydrogenase in mouse pancreatic β‑cells causes morphological and functional changes. Wang X, et al. Mol Med Rep, 2020 Apr. PMID 32319629, Free PMC Article
  5. Defining the contribution of skeletal muscle pyruvate dehydrogenase α1 to exercise performance and insulin action. Svensson K, et al. Am J Physiol Endocrinol Metab, 2018 Nov 1. PMID 30153068, Free PMC Article

See all (99) 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 oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor 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
  
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
  
acts_upstream_of_or_within carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within glucose metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within 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 intracellular membrane-bounded organelle 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 ISO
Inferred from Sequence Orthology
more info
  
part_of pyruvate dehydrogenase complex ISO
Inferred from Sequence Orthology
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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