Property Summary

NCBI Gene PubMed Count 49
PubMed Score 355.37
PubTator Score 512.76

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
cystic fibrosis 1670 1.73127810358962E-4
ovarian cancer 8492 2.33357337609348E-4
Multiple myeloma 1328 0.00117877233940563
pancreatic ductal adenocarcinoma liver metastasis 1795 0.0254696056073907
Disease Target Count Z-score Confidence
Crohn's disease 304 0.0 2.0
ulcerative colitis 2087 0.0 1.0
Disease Target Count Z-score Confidence
Lactic acidosis 43 3.123 1.6

Expression

  Differential Expression (4)

Disease log2 FC p
Multiple myeloma 1.482 0.001
cystic fibrosis -1.186 0.000
pancreatic ductal adenocarcinoma liver m... -1.947 0.025
ovarian cancer 2.500 0.000

Synonym

Accession P09622 B2R5X0 B4DHG0 B4DT69 Q14131 Q14167 Q59EV8 Q8WTS4
Symbols E3
LAD
DLDD
DLDH
GCSL
PHE3

Gene

DLD

PANTHER Protein Class (2)

PDB

3RNM   1ZY8   2F5Z   1ZMC   1ZMD  

  Ortholog (14)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA Inparanoid
S.cerevisiae OMA EggNOG Inparanoid

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.
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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.
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