Description
dihydrolipoamide dehydrogenase [Source:HGNC Symbol;Acc:2898]
Gene Synonyms
DLDD, DLDH, E3, GCSL, LAD, PHE3
Location
Chromosome 7: 107,531,415-107,572,175 forward strand.
GRCh37:CM000669.1
About this gene
This gene has 14 transcripts (splice variants) and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000205402.5 | DLD-001 | 3755 | 509aa | ENSP00000205402.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS5749 | B4DHG0 P09622 | NM_000108.3 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000440410.1 | DLD-003 | 1993 | 486aa | ENSP00000417016.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DHG0 E9PEX6 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000437604.2 | DLD-005 | 1859 | 461aa | ENSP00000387542.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DT69 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000537148.1 | DLD-201 | 1802 | 410aa | ENSP00000442399.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DHG0 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000417551.1 | DLD-006 | 2041 | 509aa | ENSP00000390667.1 | Nonsense mediated decay | CCDS5749 | B4DHG0 P09622 | - | - |
| ENST00000415325.1 | DLD-002 | 1802 | 58aa | ENSP00000402593.1 | Nonsense mediated decay | F8WDY5 | - | - | |
| ENST00000451081.1 | DLD-004 | 930 | 115aa | ENSP00000388077.1 | Nonsense mediated decay | F2Z2E3 | - | - | |
| ENST00000450038.1 | DLD-013 | 682 | 114aa | ENSP00000409590.1 | Nonsense mediated decay | F8WDM5 | - | - | |
| ENST00000494441.1 | DLD-008 | 707 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000453354.1 | DLD-011 | 537 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000489184.1 | DLD-014 | 638 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000460577.1 | DLD-010 | 600 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000478414.1 | DLD-015 | 549 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000485066.1 | DLD-007 | 483 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
