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    Pdhb pyruvate dehydrogenase (lipoamide) beta [ Mus musculus (house mouse) ]

    Gene ID: 68263, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Pdhbprovided by MGI
    Official Full Name
    pyruvate dehydrogenase (lipoamide) betaprovided by MGI
    Primary source
    MGI:MGI:1915513
    See related
    Ensembl:ENSMUSG00000021748 AllianceGenome:MGI:1915513
    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
    2610103L06Rik
    Summary
    Predicted to enable pyruvate dehydrogenase (acetyl-transferring) activity. Predicted to contribute to pyruvate dehydrogenase (NAD+) activity. Predicted to be involved in acetyl-CoA biosynthetic process from pyruvate. 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; genitourinary system; heart; integumental system; and nervous system. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human PDHB (pyruvate dehydrogenase E1 subunit beta). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart adult (RPKM 138.5), placenta adult (RPKM 75.5) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    14 A1; 14 4.74 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (14296470..14303782)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (8165991..8173303, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_35867 Neighboring gene potassium channel tetramerisation domain containing 6 Neighboring gene predicted gene, 53823 Neighboring gene STARR-seq mESC enhancer starr_35863 Neighboring gene PX domain containing serine/threonine kinase Neighboring gene ribosomal protein L13 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr14:8946918-8947218 Neighboring gene ribonuclease P 14 subunit Neighboring gene hydroxyacyl-thioester dehydratase type 2

    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
    • 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. Pyruvate dehydrogenase B regulates myogenic differentiation via the FoxP1-Arih2 axis. Jiang X, et al. J Cachexia Sarcopenia Muscle, 2023 Feb. PMID 36564038, Free PMC Article
    2. Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. Okajima K, et al. Mol Genet Metab, 2008 Apr. PMID 18164639
    3. Prolyl-hydroxylase PHD3 interacts with pyruvate dehydrogenase (PDH)-E1β and regulates the cellular PDH activity. Kikuchi D, et al. Biochem Biophys Res Commun, 2014 Aug 22. PMID 25088999
    4. Long-range enhancers regulating Myc expression are required for normal facial morphogenesis. Uslu VV, et al. Nat Genet, 2014 Jul. PMID 24859337
    5. Capillary endothelial fatty acid binding proteins 4 and 5 play a critical role in fatty acid uptake in heart and skeletal muscle. Iso T, et al. Arterioscler Thromb Vasc Biol, 2013 Nov. PMID 23968980, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pyruvate dehydrogenase B regulates myogenic differentiation via the FoxP1-Arih2 axis.
      Title: Pyruvate dehydrogenase B regulates myogenic differentiation via the FoxP1-Arih2 axis.
    2. PHD3 depletion did not affect the expression of the PDH-E1alpha, E1beta, and E2 subunits, or the phosphorylation status of E1alpha, but destabilized the PDH complex (PDC), resulting in less functional PDC.
      Title: Prolyl-hydroxylase PHD3 interacts with pyruvate dehydrogenase (PDH)-E1β and regulates the cellular PDH activity.
    Submit: New GeneRIF Correction

    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 catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to 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
    		  
    contributes_to pyruvate dehydrogenase (acetyl-transferring) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyruvate dehydrogenase (acetyl-transferring) 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
    		  
    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
    		  
    acts_upstream_of_or_within carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within 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 mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    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 E1 component subunit beta, mitochondrial
    Names
    PDHE1-B
    NP_077183.1
    XP_030103844.1

    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_024221.3 → NP_077183.1  pyruvate dehydrogenase E1 component subunit beta, mitochondrial precursor

      See identical proteins and their annotated locations for NP_077183.1

      Status: VALIDATED

      Source sequence(s)
      AK153058, BY414585, CJ159324
      Consensus CDS
      CCDS36800.1
      UniProtKB/Swiss-Prot
      Q3TL86, Q505N8, Q99LW9, Q9D051
      Related
      ENSMUSP00000022268.9, ENSMUST00000022268.10
      Conserved Domains (1) summary
      PRK11892
      Location:31 → 355
      PRK11892; pyruvate dehydrogenase subunit beta; Provisional

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      14296470..14303782
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030247984.1 → XP_030103844.1  pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q3TL86, Q505N8, Q99LW9, Q9D051
      Conserved Domains (1) summary
      PRK11892
      Location:31 → 355
      PRK11892; pyruvate dehydrogenase subunit beta; Provisional
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D051.1 GenPept UniProtKB/Swiss-Prot:Q9D051

    Gene LinkOut

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

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