Details for: DLD

Gene ID: 1738

Symbol: DLD

Ensembl ID: ENSG00000091140

Description: dihydrolipoamide dehydrogenase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 186.2481
    Cell Significance Index: -28.9700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 122.2583
    Cell Significance Index: -31.0100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 88.7006
    Cell Significance Index: -36.5400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 83.7071
    Cell Significance Index: -39.5200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 81.9432
    Cell Significance Index: -33.2900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 71.6681
    Cell Significance Index: -36.8700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 35.0670
    Cell Significance Index: -33.4800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 29.4171
    Cell Significance Index: -36.2700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.5572
    Cell Significance Index: -30.9600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.6869
    Cell Significance Index: -38.2300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.5530
    Cell Significance Index: -26.2700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.8560
    Cell Significance Index: -15.0100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 2.3915
    Cell Significance Index: 2159.3500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.8499
    Cell Significance Index: 25.2400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.2239
    Cell Significance Index: 32.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2082
    Cell Significance Index: 196.5000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9521
    Cell Significance Index: 190.9900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8718
    Cell Significance Index: 107.2000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.8374
    Cell Significance Index: 150.9600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.7851
    Cell Significance Index: 49.4800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.7408
    Cell Significance Index: 140.9700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7348
    Cell Significance Index: 38.1700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6705
    Cell Significance Index: 133.0600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.6433
    Cell Significance Index: 45.5000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6219
    Cell Significance Index: 339.6100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.6108
    Cell Significance Index: 46.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.5826
    Cell Significance Index: 30.5900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5811
    Cell Significance Index: 12.5900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5750
    Cell Significance Index: 15.6500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5725
    Cell Significance Index: 253.1100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.5149
    Cell Significance Index: 13.5400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5121
    Cell Significance Index: 14.7600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4648
    Cell Significance Index: 63.8300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4632
    Cell Significance Index: 45.8200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4604
    Cell Significance Index: 165.1500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4216
    Cell Significance Index: 19.1100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4087
    Cell Significance Index: 48.2000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3574
    Cell Significance Index: 7.4800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3356
    Cell Significance Index: 15.6500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.3231
    Cell Significance Index: 4.7700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.3171
    Cell Significance Index: 11.0200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2204
    Cell Significance Index: 28.2500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.2176
    Cell Significance Index: 6.3900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2133
    Cell Significance Index: 36.4200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1786
    Cell Significance Index: 4.7700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1716
    Cell Significance Index: 2.0500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1632
    Cell Significance Index: 21.0800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1532
    Cell Significance Index: 105.9700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1483
    Cell Significance Index: 9.5700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1387
    Cell Significance Index: 10.3400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1297
    Cell Significance Index: 4.9100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1046
    Cell Significance Index: 197.0300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0757
    Cell Significance Index: 3.5600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0728
    Cell Significance Index: 0.6700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0722
    Cell Significance Index: 3.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0554
    Cell Significance Index: 85.2400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0477
    Cell Significance Index: 34.9800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0464
    Cell Significance Index: 29.4500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0326
    Cell Significance Index: 2.0100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0239
    Cell Significance Index: 0.8400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0238
    Cell Significance Index: 43.9200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0168
    Cell Significance Index: 7.6400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0014
    Cell Significance Index: 0.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0052
    Cell Significance Index: -3.8300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0119
    Cell Significance Index: -0.1000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0147
    Cell Significance Index: -11.1600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0156
    Cell Significance Index: -21.1700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0221
    Cell Significance Index: -13.8000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0412
    Cell Significance Index: -4.2100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0485
    Cell Significance Index: -27.3600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0508
    Cell Significance Index: -0.8500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0508
    Cell Significance Index: -2.8500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0656
    Cell Significance Index: -4.4100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0711
    Cell Significance Index: -3.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0798
    Cell Significance Index: -16.8100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0818
    Cell Significance Index: -4.9100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1002
    Cell Significance Index: -3.2100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1066
    Cell Significance Index: -12.2100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1118
    Cell Significance Index: -16.2500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1125
    Cell Significance Index: -32.3800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1207
    Cell Significance Index: -14.0700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1509
    Cell Significance Index: -1.6400
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1546
    Cell Significance Index: -2.2200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1819
    Cell Significance Index: -3.5500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1949
    Cell Significance Index: -3.3400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2208
    Cell Significance Index: -17.4900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2531
    Cell Significance Index: -28.8900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3069
    Cell Significance Index: -7.8400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3069
    Cell Significance Index: -8.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3259
    Cell Significance Index: -33.9400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3418
    Cell Significance Index: -4.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3494
    Cell Significance Index: -8.9800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3554
    Cell Significance Index: -8.2100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4167
    Cell Significance Index: -10.4200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4335
    Cell Significance Index: -12.3700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4883
    Cell Significance Index: -29.9400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.5833
    Cell Significance Index: -13.9900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6279
    Cell Significance Index: -18.5000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.6365
    Cell Significance Index: -15.5300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.6450
    Cell Significance Index: -5.1500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Enzyme Activity**: DLD catalyzes the conversion of dihydrolipoamide to lipoamide, a crucial step in the PDH complex, which facilitates the decarboxylation of pyruvate to acetyl-CoA. 2. **Subcellular Location**: DLD is primarily localized in the mitochondrial matrix, where it participates in the PDH complex. 3. **Protein Structure**: The DLD protein consists of two domains: a mitochondrial matrix domain and a PDH complex domain. 4. **Gene Expression**: DLD is highly expressed in various cell types, including erythroid progenitor cells, kidney cells, and placental trophoblasts. **Pathways and Functions** 1. **Pyruvate Metabolism**: DLD is a key enzyme in the PDH complex, which converts pyruvate into acetyl-CoA, a critical step in aerobic respiration and the TCA cycle. 2. **Amino Acid Metabolism**: DLD is involved in the degradation of branched-chain amino acids and glycine, which is essential for maintaining amino acid homeostasis. 3. **Energy Production**: DLD plays a crucial role in the production of ATP, the primary energy currency of cells, by facilitating the conversion of pyruvate into acetyl-CoA. 4. **Regulation of Membrane Potential**: DLD is involved in the regulation of mitochondrial membrane potential, which is essential for maintaining cellular homeostasis. **Clinical Significance** 1. **Metabolic Disorders**: Mutations in the DLD gene have been associated with metabolic disorders, such as pyruvate dehydrogenase complex deficiency, which can lead to severe neurological and muscular symptoms. 2. **Cancer**: DLD has been implicated in the progression of various cancers, including colorectal, breast, and prostate cancer, where it plays a role in regulating energy metabolism and cell growth. 3. **Neurological Disorders**: DLD has been linked to neurological disorders, such as Alzheimer's disease and Parkinson's disease, where it is thought to play a role in regulating energy metabolism and neuronal function. In conclusion, DLD is a critical enzyme involved in various metabolic pathways, playing a pivotal role in regulating energy production, amino acid metabolism, and cell growth. Its dysregulation has been implicated in various diseases, highlighting the importance of this enzyme in maintaining cellular homeostasis. Further research is needed to fully understand the role of DLD in human health and disease.

Genular Protein ID: 2953229596

Symbol: DLDH_HUMAN

Name: Dihydrolipoyl dehydrogenase, mitochondrial

UniProtKB Accession Codes:

P09622 B2R5X0 B4DHG0 B4DT69 Q14131 Q14167 Q59EV8 Q8WTS4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 4 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CPTAC 1 CTD 1 ChEBI 16 ChiTaRS 1 ComplexPortal 4 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 1 EMBL 26 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 19 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 17 PDBsum 17 PIR 1 PIRSF 1 PRIDE 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 9 RefSeq 4 Rhea 3 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3693355

Title: Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. Homology to other disulfide oxidoreductases.

PubMed ID: 3693355

DOI: 10.1016/s0021-9258(18)45379-3

PubMed ID: 3278312

Title: Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes.

PubMed ID: 3278312

DOI: 10.1073/pnas.85.5.1422

PubMed ID: 8406489

Title: The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements.

PubMed ID: 8406489

DOI: 10.1006/geno.1993.1335

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1332063

Title: Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene.

PubMed ID: 1332063

DOI: 10.1073/pnas.89.22.10964

PubMed ID: 14638692

Title: 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.

PubMed ID: 14638692

DOI: 10.1074/jbc.m308172200

PubMed ID: 15888450

Title: Novelty of the pyruvate metabolic enzyme dihydrolipoamide dehydrogenase in spermatozoa: correlation of its localization, tyrosine phosphorylation, and activity during sperm capacitation.

PubMed ID: 15888450

DOI: 10.1074/jbc.m500310200

PubMed ID: 17404228

Title: Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.

PubMed ID: 17404228

DOI: 10.1073/pnas.0610618104

PubMed ID: 20160912

Title: Interaction of E1 and E3 components with the core proteins of the human pyruvate dehydrogenase complex.

PubMed ID: 20160912

DOI: 10.1016/j.molcatb.2009.05.001

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20385101

Title: Characterization of interactions of dihydrolipoamide dehydrogenase with its binding protein in the human pyruvate dehydrogenase complex.

PubMed ID: 20385101

DOI: 10.1016/j.bbrc.2010.04.038

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22905912

Title: Resveratrol-induced changes of the human adipocyte secretion profile.

PubMed ID: 22905912

DOI: 10.1021/pr300539b

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29211711

Title: KAT2A coupled with the alpha-KGDH complex acts as a histone H3 succinyltransferase.

PubMed ID: 29211711

DOI: 10.1038/nature25003

PubMed ID: 15946682

Title: Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.

PubMed ID: 15946682

DOI: 10.1016/j.jmb.2005.05.014

PubMed ID: 16263718

Title: How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex.

PubMed ID: 16263718

DOI: 10.1074/jbc.m507850200

PubMed ID: 16442803

Title: Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.

PubMed ID: 16442803

DOI: 10.1016/j.str.2006.01.001

PubMed ID: 20361979

Title: Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly.

PubMed ID: 20361979

DOI: 10.1016/j.jmb.2010.03.043

PubMed ID: 8506365

Title: Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.

PubMed ID: 8506365

DOI: 10.1073/pnas.90.11.5186

PubMed ID: 9540846

Title: Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing.

PubMed ID: 9540846

DOI: 10.1016/s0925-4439(97)00073-2

PubMed ID: 8968745

Title: Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.

PubMed ID: 8968745

DOI: 10.1093/hmg/5.12.1925

PubMed ID: 10448086

Title: Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.

PubMed ID: 10448086

DOI: 10.1006/bbrc.1999.1133

PubMed ID: 11687750

Title: Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.

PubMed ID: 11687750

PubMed ID: 12925875

Title: Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

PubMed ID: 12925875

DOI: 10.1007/s00431-003-1282-z

PubMed ID: 15712224

Title: A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

PubMed ID: 15712224

DOI: 10.1002/humu.9319

PubMed ID: 16770810

Title: Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

PubMed ID: 16770810

DOI: 10.1002/ajmg.a.31313

PubMed ID: 9934985

Title: Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.

PubMed ID: 9934985

DOI: 10.1002/(sici)1096-8628(19990115)82:2<177::aid-ajmg15>3.3.co;2-0

Sequence Information:

  • Length: 509
  • Mass: 54177
  • Checksum: 7613492C516F3835
  • Sequence:
    • MQSWSRVYCS LAKRGHFNRI SHGLQGLSAV PLRTYADQPI DADVTVIGSG PGGYVAAIKA 
AQLGFKTVCI EKNETLGGTC LNVGCIPSKA LLNNSHYYHM AHGKDFASRG IEMSEVRLNL 
DKMMEQKSTA VKALTGGIAH LFKQNKVVHV NGYGKITGKN QVTATKADGG TQVIDTKNIL 
IATGSEVTPF PGITIDEDTI VSSTGALSLK KVPEKMVVIG AGVIGVELGS VWQRLGADVT 
AVEFLGHVGG VGIDMEISKN FQRILQKQGF KFKLNTKVTG ATKKSDGKID VSIEAASGGK 
AEVITCDVLL VCIGRRPFTK NLGLEELGIE LDPRGRIPVN TRFQTKIPNI YAIGDVVAGP 
MLAHKAEDEG IICVEGMAGG AVHIDYNCVP SVIYTHPEVA WVGKSEEQLK EEGIEYKVGK 
FPFAANSRAK TNADTDGMVK ILGQKSTDRV LGAHILGPGA GEMVNEAALA LEYGASCEDI 
ARVCHAHPTL SEAFREANLA ASFGKSINF

Genular Protein ID: 895214609

Symbol: E9PEX6_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9PEX6

Database IDs:

ARBA 7 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 14 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 2 GeneTree 1 HGNC 1 IntAct 1 InterPro 7 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 2 PRIDE 1 PRINTS 2 PeptideAtlas 2 Pfam 4 Proteomes 2 ProteomicsDB 2 RefSeq 1 Rhea 3 RuleBase 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22905912

Title: Resveratrol-induced changes of the human adipocyte secretion profile.

PubMed ID: 22905912

DOI: 10.1021/pr300539b

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 486
  • Mass: 51815
  • Checksum: 256F9EA37D0740B6
  • Sequence:
    • MQSWSRVYCS LAKRGHFNRI SHGLQGLSAV PLRTYADQPI DADVTVIGSG PGGYVAAIKA 
AQLGFKALLN NSHYYHMAHG KDFASRGIEM SEVRLNLDKM MEQKSTAVKA LTGGIAHLFK 
QNKVVHVNGY GKITGKNQVT ATKADGGTQV IDTKNILIAT GSEVTPFPGI TIDEDTIVSS 
TGALSLKKVP EKMVVIGAGV IGVELGSVWQ RLGADVTAVE FLGHVGGVGI DMEISKNFQR 
ILQKQGFKFK LNTKVTGATK KSDGKIDVSI EAASGGKAEV ITCDVLLVCI GRRPFTKNLG 
LEELGIELDP RGRIPVNTRF QTKIPNIYAI GDVVAGPMLA HKAEDEGIIC VEGMAGGAVH 
IDYNCVPSVI YTHPEVAWVG KSEEQLKEEG IEYKVGKFPF AANSRAKTNA DTDGMVKILG 
QKSTDRVLGA HILGPGAGEM VNEAALALEY GASCEDIARV CHAHPTLSEA FREANLAASF 
GKSINF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.