Official symbol | DLD |
Gene id | 1738 |
Organism | Homo sapiens |
Official full symbol | dihydrolipoamide dehydrogenase |
Gene type | protein-coding |
Also known as | DLDD, DLDH, E3, GCSL, LAD, OGDC-E3, PHE3 |
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. |
Genomic regions | Chromosome 7 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
DLD-201 | ENST00000205402.10 | 3537 | 509aa | Protein coding | CCDS5749 | P09622-1 | NM_000108.5 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
DLD-205 | ENST00000440410.5 | 1993 | 486aa | Protein coding | CCDS78269 | E9PEX6 | - | TSL:2, GENCODE basic, |
DLD-204 | ENST00000437604.6 | 1859 | 461aa | Protein coding | CCDS78268 | P09622-3 | - | TSL:2, GENCODE basic, |
DLD-214 | ENST00000639772.1 | 421 | 114aa | Protein coding | - | A0A1W2PR83 | - | TSL:5, GENCODE basic, |
DLD-203 | ENST00000417551.5 | 2041 | 509aa | Nonsense mediated decay | CCDS5749 | P09622-1 | - | TSL:5, |
DLD-202 | ENST00000415325.5 | 1802 | 58aa | Nonsense mediated decay | - | F8WDY5 | - | TSL:2, |
DLD-207 | ENST00000451081.5 | 930 | 115aa | Nonsense mediated decay | - | F2Z2E3 | - | TSL:1, |
DLD-206 | ENST00000450038.5 | 682 | 114aa | Nonsense mediated decay | - | F8WDM5 | - | TSL:5, |
DLD-213 | ENST00000494441.1 | 707 | No protein | Processed transcript | - | - | - | TSL:3, |
DLD-208 | ENST00000453354.5 | 537 | No protein | Processed transcript | - | - | - | TSL:4, |
DLD-212 | ENST00000489184.1 | 638 | No protein | Retained intron | - | - | - | TSL:2, |
DLD-209 | ENST00000460577.5 | 600 | No protein | Retained intron | - | - | - | TSL:2, |
DLD-210 | ENST00000478414.1 | 549 | No protein | Retained intron | - | - | - | TSL:4, |
DLD-211 | ENST00000485066.1 | 483 | No protein | Retained intron | - | - | - | TSL:5, |
Target Gene | DLD |
This KO Strategy | loading |
Red Cotton™ Notes | Gene DLD had been KO in hela cell line. |
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