Property Summary

NCBI Gene PubMed Count 49
PubMed Score 355.37
PubTator Score 512.76

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
Multiple myeloma 1.482 1.2e-03
cystic fibrosis -1.186 1.7e-04
pancreatic ductal adenocarcinoma liver m... -1.947 2.5e-02
ovarian cancer 2.500 2.3e-04

Gene RIF (24)

PMID Text
26078703 Mitochondrial dihydrolipoamide dehydrogenase is upregulated in response to the brain intermittent hypoxic preconditioning.
25202086 IgA autoantibody against DLD could be a novel diagnostic marker for endometrial cancer.
24012808 This molecular dynamics study proposes the structural changes that may lead to the modulation in reactive oxygen species generation by pathogenic mutants of human dihydrolipoamide dehydrogenase.
23475850 ATP consumption is demonstrated in respiration-impaired isolated and in situ neuronal somal mitochondria from transgenic mice that exhibit a 20-48% decrease in alpha-ketoglutarate dehydrogenase activity.
22944692 Positional proteomics analysis identifies the cleavage of human dihydrolipoamide dehydrogenase (DLD) at amino acid residues 470-471 by the HIV-1 protease
21930696 the cryptic activities of DLD promote oxidative damage to neighboring molecules and thus contribute to the clinical severity of DLD mutations
21543315 Structural and thermodynamic basis for weak interactions between dihydrolipoamide dehydrogenase and subunit-binding domain of the branched-chain alpha-ketoacid dehydrogenase complex.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20652410 Case Report: novel mutation in the DLD interface giving rise to DLD deficiency.
19405953 This protein has been found differentially expressed in the Wernicke's Area from patients with schizophrenia.
17960497 kinetic studies suggest that T148 is not important to E3 catalytic function and R281 plays a role in the catalytic function of E3
17404228 Human, mouse, and pig Dld has moonlighting function as a protease in addition to its canonical function as a a dehydrogenase.
17404228 Certain DLD mutations can simultaneously induce the loss of a primary metabolic activity and the gain of a moonlighting proteolytic activity thus contributing to the metabolic derangement associated with DLD deficiency.
17171578 These results suggest that N286 and D320 play a role in the catalytic function of the E3.
16584639 The conservation of the Ile-51 residue with Ala using site-directed mutagenesis in human Dihydrolipoamide dehydrogenase(E3) was very important to the efficient catalytic function of the enzyme.
16442803 dihydrolipoamide dehydrogenase
16263718 specificity of pairing for human E3BP with E3 from its subcomplex structure to be most likely due to conformational rigidity of the binding fragment of the E3-binding domain of E3BP and its exquisite amino acid match with the E3 target interface
15946682 the disease-causing mutations of E3 occur at three locations in the human enzyme: the dimer interface, the active site, and the FAD and NAD(+)-binding sites
15826505 Asparagine-473 residue is important for the catalytic function of dihydrolipoamide dehydrogenase.
15712224 A c.1444A>G substitution in E3 exon 13, predictive of a p.R482G (or R447G in the processed gene product) substitution in a highly conserved domain of the protein was found.
15389771 Observational study of gene-disease association. (HuGE Navigator)
14638692 model of the pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and binding of the E1 and E3 components
12297006 Activity of human dihydrolipoamide dehydrogenase is reduced by mutation at threonine-44 of FAD-binding region to valine.
11935326 the E3 binding protein component of the pyruvate dehydrogenase complex appear to be a rare cause of pyruvate dehydrogenase deficiency

AA Sequence

MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCI      1 - 70
EKNETLGGTCLNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAH     71 - 140
LFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLK    141 - 210
KVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTG    211 - 280
ATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNI    281 - 350
YAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGK    351 - 420
FPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTL    421 - 490
SEAFREANLAASFGKSINF                                                       491 - 509
//

Text Mined References (57)

PMID Year Title
26078703 2015 Mitochondrial Dihydrolipoamide Dehydrogenase is Upregulated in Response to Intermittent Hypoxic Preconditioning.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25202086 2014 Proteomic identification of dihydrolipoamide dehydrogenase as a target of autoantibodies in patients with endometrial cancer.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24012808 2013 Molecular dynamics study of the structural basis of dysfunction and the modulation of reactive oxygen species generation by pathogenic mutants of human dihydrolipoamide dehydrogenase.
23475850 2013 The negative impact of ?-ketoglutarate dehydrogenase complex deficiency on matrix substrate-level phosphorylation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
22905912 2012 Resveratrol-induced changes of the human adipocyte secretion profile.
21930696 2011 Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.
21543315 2011 Structural and thermodynamic basis for weak interactions between dihydrolipoamide dehydrogenase and subunit-binding domain of the branched-chain alpha-ketoacid dehydrogenase complex.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
20652410 2010 Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
20228799 2010 Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19405953 2009 Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.
19122664 2009 Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17960497 2008 The role of amino acids T148 and R281 in human dihydrolipoamide dehydrogenase.
17404228 2007 Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17171578 2007 The role of N286 and D320 in the reaction mechanism of human dihydrolipoamide dehydrogenase (E3) center domain.
16584639 2006 Activity of human dihydrolipoamide dehydrogenase is largely reduced by mutation at isoleucine-51 to alanine.
16442803 2006 Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.
16263718 2006 How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex.
15946682 2005 Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.
15826505 2005 Asparagine-473 residue is important to the efficient function of human dihydrolipoamide dehydrogenase.
15712224 2005 A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15389771 2004 Association of the dihydrolipoamide dehydrogenase gene with Alzheimer's disease in an Ashkenazi Jewish population.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14638692 2004 Organization 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.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12676647 2003 Recent advances in mechanisms regulating glucose oxidation at the level of the pyruvate dehydrogenase complex by PDKs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12297006 2002 Activity of human dihydrolipoamide dehydrogenase is reduced by mutation at threonine-44 of FAD-binding region to valine.
11935326 2002 Pyruvate dehydrogenase E3 binding protein deficiency.
9934985 1999 Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.
9727038 1998 Subunit interactions in the mammalian alpha-ketoglutarate dehydrogenase complex. Evidence for direct association of the alpha-ketoglutarate dehydrogenase and dihydrolipoamide dehydrogenase components.
9242632 1997 Dihydrolipoamide dehydrogenase-binding protein of the human pyruvate dehydrogenase complex. DNA-derived amino acid sequence, expression, and reconstitution of the pyruvate dehydrogenase complex.
9040023 1997 Autoantibodies in sera of patients with myocarditis: characterization of the corresponding proteins by isoelectric focusing and N-terminal sequence analysis.
8968745 1996 Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.
8619544 1996 Brain protein and alpha-ketoglutarate dehydrogenase complex activity in Alzheimer's disease.
8506365 1993 Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.
8406489 1993 The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7273846 1981 The glucose-lactic acid cycle and gluconeogenesis.
6897145 1982 Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency.
3693355 1987 Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. Homology to other disulfide oxidoreductases.
3278312 1988 Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes.
2188967 1990 Structure-function relationships in dihydrolipoamide acyltransferases.
2055113 1991 Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31----q32.
1993704 1991 The glycine cleavage system. Molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structures.
1332063 1992 Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene.