DLD (dihydrolipoamide dehydrogenase)

2007-04-01  

Identity

HGNC
LOCATION
7q31.1
LOCUSID
ALIAS
DLDD,DLDH,E3,GCSL,LAD,OGDC-E3,PHE3
FUSION GENES

Other Information

Locus ID:

NCBI: 1738
MIM: 238331
HGNC: 2898
Ensembl: ENSG00000091140

Variants:

dbSNP: 1738
ClinVar: 1738
TCGA: ENSG00000091140
COSMIC: DLD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000091140ENST00000205402P09622
ENSG00000091140ENST00000205402A0A024R713
ENSG00000091140ENST00000415325F8WDY5
ENSG00000091140ENST00000417551P09622
ENSG00000091140ENST00000417551A0A024R713
ENSG00000091140ENST00000437604P09622
ENSG00000091140ENST00000440410E9PEX6
ENSG00000091140ENST00000450038F8WDM5
ENSG00000091140ENST00000451081F2Z2E3
ENSG00000091140ENST00000639772A0A1W2PR83

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Citrate cycle (TCA cycle)KEGGko00020
Glycine, serine and threonine metabolismKEGGko00260
Valine, leucine and isoleucine degradationKEGGko00280
Pyruvate metabolismKEGGko00620
Glyoxylate and dicarboxylate metabolismKEGGko00630
Propanoate metabolismKEGGko00640
Glycolysis / GluconeogenesisKEGGhsa00010
Citrate cycle (TCA cycle)KEGGhsa00020
Glycine, serine and threonine metabolismKEGGhsa00260
Valine, leucine and isoleucine degradationKEGGhsa00280
Pyruvate metabolismKEGGhsa00620
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Propanoate metabolismKEGGhsa00640
Metabolic pathwaysKEGGhsa01100
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetateKEGGhsa_M00011
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGhsa_M00036
Pyruvate oxidation, pyruvate => acetyl-CoAKEGGhsa_M00307
Citrate cycle (TCA cycle, Krebs cycle)KEGGM00009
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetateKEGGM00011
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGM00036
Pyruvate oxidation, pyruvate => acetyl-CoAKEGGM00307
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Citrate cycle (TCA cycle, Krebs cycle)KEGGhsa_M00009
Signal TransductionREACTOMER-HSA-162582
Signaling by Retinoic AcidREACTOMER-HSA-5362517
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Pyruvate metabolismREACTOMER-HSA-70268
Regulation of pyruvate dehydrogenase (PDH) complexREACTOMER-HSA-204174
Citric acid cycle (TCA cycle)REACTOMER-HSA-71403
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895
Lysine catabolismREACTOMER-HSA-71064
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656
Glycine degradationREACTOMER-HSA-6783984

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
159466822005Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.40
194059532009Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.38
146386922004Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components.35
174042282007Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.32
174042282007Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.32
164428032006Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.26
157122242005A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.23
162637182006How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
219306962011Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.14

Citation

Dessen P

DLD (dihydrolipoamide dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47163/dld