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

    Gene ID: 27402, updated on 6-Oct-2024

    Summary

    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 acyltransferase activity. Predicted to contribute to pyruvate dehydrogenase (NAD+) activity. Predicted to act upstream of or within mitochondrial acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. 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. Orthologous to human PDHX (pyruvate dehydrogenase complex component X). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart adult (RPKM 23.4), CNS E18 (RPKM 11.9) and 27 other tissues See more
    Orthologs
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    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

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

      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:57131
      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:58500
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
      pfam00198
      Location:291500
      2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
      pfam02817
      Location:183215
      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)