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

Summary

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, Dec 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

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (3) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pdha1 (e-PCR), detects polymorphism
- UniSTS:546585

Pdha1 (e-PCR), detects polymorphism
- UniSTS:144154

Pdha1 (e-PCR), detects polymorphism
- UniSTS:546586

Pdha1 (e-PCR), detects polymorphism
- UniSTS:546926

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 more info	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 more info	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

EC 1.2.4.1

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)

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