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

Gene ID: 18597, updated on 1-Mar-2024

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 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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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
 
part_of mitochondrial pyruvate dehydrogenase complex ISO
Inferred from Sequence Orthology
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

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_008810.3NP_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:58370
    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)