Dld dihydrolipoamide dehydrogenase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dldprovided by MGI
Official Full Name: dihydrolipoamide dehydrogenaseprovided by MGI
Primary source: MGI:MGI:107450
See related: Ensembl:ENSMUSG00000020664 AllianceGenome:MGI:107450
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. [provided by RefSeq, Jan 2014]
Expression: Ubiquitous expression in placenta adult (RPKM 46.8), heart adult (RPKM 46.1) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 A2; 12 13.43 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (31381561..31401470, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (31331562..31351471, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mitochondrial dihydrolipoamide dehydrogenase is upregulated in response to the brain intermittent hypoxic preconditioning.
Title: Mitochondrial Dihydrolipoamide Dehydrogenase is Upregulated in Response to Intermittent Hypoxic Preconditioning.
DLD, malic acid, and fumaric acid can be used for development of cosmeceuticals and nutraceuticals regulating the change of skin metabolism induced by the UVB overexposure.
Title: Dihydrolipoyl dehydrogenase as a potential UVB target in skin epidermis; using an integrated approach of label-free quantitative proteomics and targeted metabolite analysis.
Data show that mitochondrial diaphorases (dihydrolipoamide dehydrogenase) in the liver contribute up to 81% to the NAD(+) pool during respiratory inhibition.
Title: Mitochondrial diaphorases as NAD⁺ donors to segments of the citric acid cycle that support substrate-level phosphorylation yielding ATP during respiratory inhibition.
Human, mouse, and pig Dld has moonlighting function as a protease in addition to its canonical function as a a dehydrogenase.
Title: Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.
ATP consumption is demonstrated in respiration-impaired isolated mice and in situ neuronal mitochondria from transgenic mice with dihydrolipoyl succinyltransferase deficiency.
Title: The negative impact of α-ketoglutarate dehydrogenase complex deficiency on matrix substrate-level phosphorylation.
Mice that are deficient in dihydrolipoamide dehydrogenase show increased vulnerability to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), malonate and 3-nitropropionic acid, which have been used in models of Parkinson disease and Huntington disease
Title: Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP, malonate and 3-nitropropionic acid neurotoxicity.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Dld (e-PCR), detects polymorphism
- UniSTS:142851

RH127918 (e-PCR)
- UniSTS:211228

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

AI746344 (e-PCR)
- UniSTS:180378

RH130917 (e-PCR)
- UniSTS:214201

AI315664 (e-PCR)
- UniSTS:160195

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables NAD binding	ISO Inferred from Sequence Orthology more info
enables branched-chain alpha-keto acid dehydrogenase activity	IEA Inferred from Electronic Annotation more info
contributes_to branched-chain alpha-keto acid dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables dihydrolipoyl dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dihydrolipoyl dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables dihydrolipoyl dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables dihydrolipoyl dehydrogenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info
enables flavin adenine dinucleotide binding	ISO Inferred from Sequence Orthology more info
enables lipoamide binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to pyruvate dehydrogenase (NAD+) activity	IC Inferred by Curator more info	PubMed
contributes_to pyruvate dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in 2-oxoglutarate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in 2-oxoglutarate metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within acetyl-CoA biosynthetic process from pyruvate	IC Inferred by Curator more info	PubMed
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
involved_in branched-chain amino acid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in branched-chain amino acid catabolic process	ISO Inferred from Sequence Orthology more info
involved_in dihydrolipoamide metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipoate metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitochondrial electron transport, NADH to ubiquinone	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in pyruvate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sperm capacitation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of acetyltransferase complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in acrosomal matrix	IDA Inferred from Direct Assay more info	PubMed
part_of branched-chain alpha-ketoacid dehydrogenase complex	IEA Inferred from Electronic Annotation more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in myelin sheath	HDA more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of oxoadipate dehydrogenase complex	IEA Inferred from Electronic Annotation more info
part_of oxoglutarate dehydrogenase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of oxoglutarate dehydrogenase complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of oxoglutarate dehydrogenase complex	ISO Inferred from Sequence Orthology more info
part_of oxoglutarate dehydrogenase complex	ISS Inferred from Sequence or Structural Similarity more info
part_of pyruvate dehydrogenase complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of pyruvate dehydrogenase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dihydrolipoyl dehydrogenase, mitochondrial

Names: branched chain alpha-keto acid dehydrogenase complex subunit E3

NP_031887.2

EC 1.8.1.4

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.