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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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