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    Pdha2 pyruvate dehydrogenase E1 alpha 2 [ Mus musculus (house mouse) ]

    Gene ID: 18598, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Pdha2provided by MGI
    Official Full Name
    pyruvate dehydrogenase E1 alpha 2provided by MGI
    Primary source
    MGI:MGI:97533
    See related
    Ensembl:ENSMUSG00000047674 AllianceGenome:MGI:97533
    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
    Pdhal
    Summary
    Predicted to enable pyruvate dehydrogenase (NAD+) activity and pyruvate dehydrogenase (acetyl-transferring) activity. Predicted to be involved in acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Is expressed in nervous system; testis; and ventricle cardiac muscle. Human ortholog(s) of this gene implicated in spermatogenic failure 70. Orthologous to human PDHA2 (pyruvate dehydrogenase E1 subunit alpha 2). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    human all
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    Genomic context

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    See Pdha2 in Genome Data Viewer
    Location:
    3 H1; 3 65.3 cM
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (140915765..140918116, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (141210004..141212355, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_09142 Neighboring gene RIKEN cDNA 4930590L14 gene Neighboring gene predicted gene, 32754 Neighboring gene STARR-seq mESC enhancer starr_09143 Neighboring gene predicted gene, 32875 Neighboring gene STARR-seq mESC enhancer starr_09144 Neighboring gene STARR-seq mESC enhancer starr_09145 Neighboring gene unc-5 netrin receptor C Neighboring gene predicted gene 15689 Neighboring gene STARR-seq mESC enhancer starr_09146 Neighboring gene STARR-seq mESC enhancer starr_09149 Neighboring gene STARR-seq mESC enhancer starr_09150 Neighboring gene bone morphogenetic protein receptor, type 1B Neighboring gene STARR-seq mESC enhancer starr_09151

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Transcriptional expression of a testis-specific variant of the mouse pyruvate dehydrogenase E1 alpha subunit. Iannello RC, et al. Biol Reprod, 1992 Jul. PMID 1637947
    2. Temporal and tissue-specific interactions involving novel transcription factors and the proximal promoter of the mouse Pdha-2 gene. Iannello RC, et al. J Biol Chem, 1993 Oct 25. PMID 7693672
    3. The expression pattern of the pyruvate dehydrogenase E1 alpha subunit genes during spermatogenesis in adult mouse. Takakubo F, et al. Exp Cell Res, 1992 Mar. PMID 1735460
    4. Pyruvate dehydrogenase E1 alpha subunit genes in the mouse: mapping and comparison with human homologs. Brown RM, et al. Somat Cell Mol Genet, 1990 Sep. PMID 2122529
    5. Isolation and characterisation of the mouse pyruvate dehydrogenase E1 alpha genes. Fitzgerald J, et al. Biochim Biophys Acta, 1992 May 7. PMID 1581363

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    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 pyruvate dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyruvate dehydrogenase (acetyl-transferring) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables pyruvate dehydrogenase (acetyl-transferring) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyruvate dehydrogenase (acetyl-transferring) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 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 pyruvate metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in pyruvate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of acetyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    part_of catalytic complex ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial
    Names
    PDHE1-A type II
    PYRUVATE DEHYDROGENASE E1 COMPONENT ALPHA SUBUNIT, TESTIS-SPECIFIC FORM, MITOCHONDRIAL PRECURSOR (PDHE1-A TYPE II)
    NP_032837.1

    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_008811.2 → NP_032837.1  pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial precursor

      See identical proteins and their annotated locations for NP_032837.1

      Status: VALIDATED

      Source sequence(s)
      AC100752
      Consensus CDS
      CCDS17872.1
      UniProtKB/Swiss-Prot
      P35487, Q497M8
      UniProtKB/TrEMBL
      Q9D9X9
      Related
      ENSMUSP00000060774.3, ENSMUST00000057860.3
      Conserved Domains (1) summary
      TIGR03182
      Location:59 → 371
      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_000069.7 Reference GRCm39 C57BL/6J

      Range
      140915765..140918116 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35487.1 GenPept UniProtKB/Swiss-Prot:P35487

    Gene LinkOut

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