Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Pdha1provided by RGD
Official Full Name: pyruvate dehydrogenase E1 subunit alpha 1provided by RGD
Primary source: RGD:3286
See related: EnsemblRapid:ENSRNOG00000025383 AllianceGenome:RGD:3286
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables pyruvate dehydrogenase (acetyl-transferring) activity. Involved in acetyl-CoA biosynthetic process from pyruvate. Part of pyruvate dehydrogenase complex. Used to study pyruvate decarboxylase deficiency. 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: Biased expression in Heart (RPKM 2912.9), Muscle (RPKM 2115.2) and 8 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: Xq14

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (38509158..38522986)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (34700481..34714309)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (37329779..37343410)

Chromosome X - NC_086039.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The association of mitochondrial microphthalmia-associated transcription factor (MITF) with pyruvate dehydrogenase (PDH) emerges as an important regulator of mast cell function. Our findings indicate that PDH could arise as a new target for the manipulation of allergic diseases.
Title: Pyruvate dehydrogenase has a major role in mast cell function, and its activity is regulated by mitochondrial microphthalmia transcription factor.
Data indicate that catalytic transformation of pyruvate by pyruvate dehydrogenase is essential for the metabolism and viability of glioblastoma cell lines.
Title: Specific inhibition by synthetic analogs of pyruvate reveals that the pyruvate dehydrogenase reaction is essential for metabolism and viability of glioblastoma cells.
Although glucose stimulates E1alpha phosphorylation and therefore inhibits PDH activity, this control mechanism by itself does not alter metabolism-secretion coupling in INS-1E clonal beta-cells.
Title: Pyruvate dehydrogenase E1α phosphorylation is induced by glucose but does not control metabolism-secretion coupling in INS-1E clonal β-cells.
traumatic brain injury induced change in PDHE1alpha1 expression and phosphorylation could alter brain pyruvate dehydrogenase activity and glucose metabolism.
Title: Traumatic brain injury-induced expression and phosphorylation of pyruvate dehydrogenase: a mechanism of dysregulated glucose metabolism.

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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

AA819807 (e-PCR)
- UniSTS:243457

RH141520 (e-PCR)
- UniSTS:223514

AI170398 (e-PCR)
- UniSTS:250402

RH144218 (e-PCR)
- UniSTS:233463

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables pyruvate dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables pyruvate dehydrogenase (acetyl-transferring) activity	IDA Inferred from Direct Assay more info	PubMed
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
contributes_to pyruvate dehydrogenase (acetyl-transferring) activity	ISS Inferred from Sequence or Structural Similarity more info
enables pyruvate dehydrogenase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in acetyl-CoA biosynthetic process from pyruvate	IBA Inferred from Biological aspect of Ancestor more info
involved_in acetyl-CoA biosynthetic process from pyruvate	IDA Inferred from Direct Assay more info	PubMed
involved_in acetyl-CoA biosynthetic process from pyruvate	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within acetyl-CoA biosynthetic process from pyruvate	ISO Inferred from Sequence Orthology more info
involved_in acetyl-CoA biosynthetic process from pyruvate	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology 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

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Preferred Names: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial

Names: PDHE1-A type I; pyruvate dehydrogenase (lipoamide) alpha 1; pyruvate dehydrogenase E1 alpha 1 subunit; pyruvate dehydrogenase E1alpha subunit; pyruvate dehydrogenase alpha 1

NP_001004072.2

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_001004072.2 → NP_001004072.2 pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor

See identical proteins and their annotated locations for NP_001004072.2

Status: VALIDATED

Source sequence(s)

BC098897

UniProtKB/Swiss-Prot

P26284

UniProtKB/TrEMBL

Q4FZZ4

Related

ENSRNOP00000030279.8, ENSRNOT00000038352.8

Conserved Domains (1) summary

TIGR03182
Location:58 → 370

PDH_E1_alph_y; pyruvate dehydrogenase E1 component, alpha subunit