DHTKD1

dehydrogenase E1 and transketolase domain containing 1 | CMT2Q, DKFZP762M115, E1a, KIAA1630, MGC3090, OADC-E1, OADH-E1

This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]

Member of: DE-2 DE-2.26

Biological processes 13 terms

2-oxoadipate dehydrogenase activity (GO:0160166)2-oxoadipate dehydrogenase activity (GO:0160166)L-lysine catabolic process (GO:0019477)generation of precursor metabolites and energy (GO:0006091)mitochondrial matrix (GO:0005759)mitochondrial matrix (GO:0005759)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor (GO:0016624)oxoadipate dehydrogenase complex (GO:0160167)protein binding (GO:0005515)thiamine pyrophosphate binding (GO:0030976)

Expression (TPM)

TFs regulating DHTKD1 0 TFs

Transcription factors with Perturb-seq knockdown data for DHTKD1. 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 = DHTKD1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

TF	Mean coef	Binding	Outlier	TF→Gene link

Rows:

Elements linked to DHTKD1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of DHTKD1, 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.

Element	Dist. to TSS	Link type	TFs
chr10:11,799,285–11,799,933	269.5 kb	Distal (>10kb) Multiome	102
chr10:11,823,198–11,824,010	245.6 kb	Distal (>10kb) Multiome	551
chr10:11,869,855–11,870,414	198.8 kb	Distal (>10kb) Multiome	105
chr10:11,874,348–11,875,590	194.1 kb	Distal (>10kb) Multiome	672
chr10:11,913,209–11,913,675	155.5 kb	Distal (>10kb) Multiome	34
chr10:12,041,862–12,043,685	25.9 kb	Distal (>10kb) Multiome	849
chr10:12,063,340–12,063,818	5.4 kb	Proximal (<10kb) Multiome	219
chr10:12,068,387–12,069,409	178 bp	At TSS Multiome	831
chr10:12,129,046–12,130,594	60.5 kb	Distal (>10kb) Multiome	734
chr10:12,195,567–12,196,550	127.1 kb	Distal (>10kb) Multiome	929
chr10:12,264,254–12,264,720	195.4 kb	Distal (>10kb) Multiome	542
chr10:12,348,533–12,350,063	280.4 kb	Distal (>10kb) Multiome	473

Genome Browser

Genomic view of the DHTKD1 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.