DLD

DLD Gene 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. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Details

Type
Retained Intron
Official Symbol
DLD
Official Name
dihydrolipoamide dehydrogenase [Source:HGNC Symbol;Acc:HGNC:2898]
Ensembl ID
ENSG00000091140
Bio databases IDs NCBI: 1738 Ensembl: ENSG00000091140
Aliases dihydrolipoamide dehydrogenase, E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
Synonyms
BCKD E3 Subunit,branched-chain alpha-keto acid dehydrogenase,branched-chain alpha-keto acid dehydrogenase complex,dihydrolipoamide dehydrogenase,DLDD,DLDH,E3,GCSL,Kdh E3,LAD,OGDC-E3,PHE3
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Rossmann-fold NAD(P)(+)-binding proteins
  • mycothione reductase
  • flavin adenine dinucleotide binding
  • dihydrolipoamide dehydrogenase
  • enzyme
  • protein binding
  • thioredoxin and glutathione reductase selenoprotein
  • Pyridine nucleotide-disulphide oxidoreductase, dimerization domain
  • mercury(II) reductase
  • NAD or NADH binding
  • lipoyl domain
  • trypanothione-disulfide reductase
  • binding protein
  • 2-oxoisovalerate dehydrogenase (acylating)
  • Pyridine nucleotide-disulphide oxidoreductase
  • glutathione-disulfide reductase, animal/bacterial
  • aldehyde or oxo group:NAD or NADP oxidoreductase
  • pyruvate dehydrogenase

Pathways

Biological processes and signaling networks where the DLD gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • HSPA1A
  • LARS1
  • HSP90B1
  • OTUB1
  • BIRC3
  • PRKAR2A
  • POLR1G
  • GNB2
  • YWHAQ
  • LDHB
disease
  • cancer
  • lymphatic neoplasia
  • hepatocellular carcinoma
  • liver cancer
  • epithelial cancer
  • epithelial neoplasia
  • obesity
  • breast cancer
  • maple syrup urine disease type 3
  • lung squamous cell carcinoma
regulated by
  • nicotinamide-beta-riboside
  • tamoxifen
  • TP53
  • SLC1A5
  • PTEN
  • doxorubicin
  • NOTCH1
  • 1,25-dihydroxyvitamin D
  • oxygen
  • RYR1
regulates
  • reactive oxygen species
  • lipoic acid
  • pyruvate dehydrogenase
  • branched chain amino acids
  • BCKD
  • dihydrolipoamide
  • 2-oxo acid
  • alpha-ketoglutarate dehydrogenase
  • acetyl-coenzyme A
  • DLAT
role in cell
  • apoptosis
  • production in
  • proliferation
  • transmembrane potential
  • growth
  • number
  • capacitation
  • mitochondrial respiration
  • respiration
  • depletion

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • myelin enriched fraction
  • detergent resistant lipid raft fraction
  • cilia
  • cellular membrane
  • Nucleus
  • Mitochondria
  • cytosol
  • mitochondrial matrix
  • acrosome

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the DLD gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • sperm capacitation
  • regulation of membrane potential
  • branched chain family amino acid catabolic process
  • acetyl-CoA biosynthetic process from pyruvate
  • mitochondrial electron transport, NADH to ubiquinone
  • proteolysis
  • gastrulation

CELLULAR COMPONENT

Where in the cell the gene product is active
  • nucleus
  • motile cilium
  • pyruvate dehydrogenase complex
  • mitochondrial matrix
  • oxoglutarate dehydrogenase complex
  • mitochondrion
  • acrosomal matrix

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • protein binding
  • flavin adenine dinucleotide binding
  • 2-oxoisovalerate dehydrogenase (acylating) activity
  • pyruvate dehydrogenase (NAD+) activity
  • dihydrolipoyl dehydrogenase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.