DLD
dihydrolipoamide dehydrogenase | DLDH, E3, OGDC-E3, GCSL, LAD

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]

Member of: DE-1 Developmental clusters: GC5
Biological processes 46 terms
2-oxoglutarate decarboxylation to succinyl-CoA (GO:0120551)2-oxoglutarate metabolic process (GO:0006103)2-oxoglutarate metabolic process (GO:0006103)L-lysine catabolic process (GO:0019477)acrosomal matrix (GO:0043159)acrosomal vesicle (GO:0001669)branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA (GO:0120552)branched-chain alpha-ketoacid dehydrogenase complex (GO:0160157)branched-chain amino acid catabolic process (GO:0009083)cilium (GO:0005929)dihydrolipoyl dehydrogenase (NADH) activity (GO:0004148)dihydrolipoyl dehydrogenase (NADH) activity (GO:0004148)dihydrolipoyl dehydrogenase (NADH) activity (GO:0004148)dihydrolipoyl dehydrogenase (NADH) activity (GO:0004148)dihydrolipoyl dehydrogenase (NADH) activity (GO:0004148)flavin adenine dinucleotide binding (GO:0050660)flavin adenine dinucleotide binding (GO:0050660)mitochondrial matrix (GO:0005759)mitochondrial matrix (GO:0005759)mitochondrial matrix (GO:0005759)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)motile cilium (GO:0031514)nucleoplasm (GO:0005654)nucleus (GO:0005634)nucleus (GO:0005634)oxidoreductase activity (GO:0016491)oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor (GO:0016668)oxoadipate dehydrogenase complex (GO:0160167)oxoglutarate dehydrogenase complex (GO:0045252)oxoglutarate dehydrogenase complex (GO:0045252)oxoglutarate dehydrogenase complex (GO:0045252)protein binding (GO:0005515)pyruvate decarboxylation to acetyl-CoA (GO:0006086)pyruvate decarboxylation to acetyl-CoA (GO:0006086)pyruvate decarboxylation to acetyl-CoA (GO:0006086)pyruvate dehydrogenase complex (GO:0045254)pyruvate dehydrogenase complex (GO:0045254)pyruvate metabolic process (GO:0006090)tricarboxylic acid cycle (GO:0006099)tricarboxylic acid cycle (GO:0006099)
Expression (TPM)
DLD — as a Regulated Gene

TFs regulating DLD 0 TFs

Transcription factors with Perturb-seq knockdown data for DLD. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = DLD upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to DLD

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of DLD, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr7:107,660,462–107,662,091 229.6 kb Distal (>10kb) Multiome 578
chr7:107,742,953–107,744,685 147.3 kb Distal (>10kb) Multiome 1055
chr7:107,890,620–107,891,827 61 bp At TSS Multiome 950
chr7:107,932,723–107,933,235 41.8 kb Distal (>10kb) Multiome 109
chr7:108,001,297–108,001,784 110.3 kb Distal (>10kb) Multiome 244
chr7:108,001,968–108,003,797 112.0 kb Distal (>10kb) Multiome 685
chr7:108,134,914–108,135,839 244.1 kb Distal (>10kb) Multiome 247

Genome Browser

Genomic view of the DLD locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr7:107,650,462 – 108,145,839
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq