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    Pdhx pyruvate dehydrogenase complex, component X [ Mus musculus (house mouse) ]

    Gene ID: 27402, updated on 3-Nov-2024

    Summary

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    Official Symbol
    Pdhxprovided by MGI
    Official Full Name
    pyruvate dehydrogenase complex, component Xprovided by MGI
    Primary source
    MGI:MGI:1351627
    See related
    Ensembl:ENSMUSG00000010914 AllianceGenome:MGI:1351627
    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
    E3bp; Pdx1
    Summary
    Predicted to enable molecular adaptor activity. Predicted to contribute to pyruvate dehydrogenase (NAD+) activity. Involved in acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Is active in mitochondrial matrix. Is expressed in several structures, including alimentary system; musculature; nervous system; sensory organ; and urinary system. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency and sarcoma. Orthologous to human PDHX (pyruvate dehydrogenase complex component X). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 23.4), CNS E18 (RPKM 11.9) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pdhx in Genome Data Viewer
    Location:
    2 E2; 2 54.25 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (102851400..102903858, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (103021055..103073513, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene CD44 antigen Neighboring gene STARR-seq mESC enhancer starr_05261 Neighboring gene STARR-seq mESC enhancer starr_05262 Neighboring gene predicted gene, 23731 Neighboring gene STARR-positive B cell enhancer ABC_E9522 Neighboring gene STARR-positive B cell enhancer ABC_E2632 Neighboring gene predicted gene, 34483 Neighboring gene STARR-positive B cell enhancer ABC_E5951 Neighboring gene STARR-positive B cell enhancer ABC_E5952 Neighboring gene STARR-positive B cell enhancer mm9_chr2:102913613-102913914 Neighboring gene STARR-seq mESC enhancer starr_05263 Neighboring gene APAF1 interacting protein Neighboring gene STARR-seq mESC enhancer starr_05264 Neighboring gene STARR-seq mESC enhancer starr_05265 Neighboring gene predicted gene 13869

    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 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. Regulation of PDK mRNA by high fatty acid and glucose in pancreatic islets. Xu J, et al. Biochem Biophys Res Commun, 2006 Jun 9. PMID 16631612
    2. Targeted disruption of the murine dihydrolipoamide dehydrogenase gene (Dld) results in perigastrulation lethality. Johnson MT, et al. Proc Natl Acad Sci U S A, 1997 Dec 23. PMID 9405644, Free PMC Article
    3. Oxidative metabolism of pyruvate is required for meiotic maturation of murine oocytes in vivo. Johnson MT, et al. Biol Reprod, 2007 Jul. PMID 17314311
    4. E4F1-mediated control of pyruvate dehydrogenase activity is essential for skin homeostasis. Goguet-Rubio P, et al. Proc Natl Acad Sci U S A, 2016 Sep 27. PMID 27621431, Free PMC Article
    5. Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components. Hiromasa Y, et al. J Biol Chem, 2004 Feb 20. PMID 14638692

    See all (39) 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 (1) 
    • Targeted (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 acyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    contributes_to pyruvate dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in acetyl-CoA biosynthetic process from pyruvate IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		  
    Component Evidence Code Pubs
    part_of acetyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of pyruvate dehydrogenase complex IBA
    Inferred from Biological aspect of Ancestor
    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 protein X component, mitochondrial
    Names
    dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex (E3-binding protein) (proX)
    lipoyl-containing pyruvate dehydrogenase complex component X
    NP_780303.1

    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_175094.5 → NP_780303.1  pyruvate dehydrogenase protein X component, mitochondrial

      See identical proteins and their annotated locations for NP_780303.1

      Status: VALIDATED

      Source sequence(s)
      AK047670, AK050433, BX635213
      Consensus CDS
      CCDS16473.1
      UniProtKB/Swiss-Prot
      Q8BKZ9
      Related
      ENSMUSP00000011058.3, ENSMUST00000011058.9
      Conserved Domains (4) summary
      cd06849
      Location:57 → 131
      lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...
      TIGR01349
      Location:58 → 500
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
      pfam00198
      Location:291 → 500
      2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
      pfam02817
      Location:183 → 215
      E3_binding; e3 binding domain

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      102851400..102903858 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BKZ9.1 GenPept UniProtKB/Swiss-Prot:Q8BKZ9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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