Property Summary

NCBI Gene PubMed Count 36
PubMed Score 250.57
PubTator Score 95.51

Knowledge Summary


No data available


  Differential Expression (3)

Disease log2 FC p
psoriasis 1.100 1.4e-03
hereditary spastic paraplegia -1.032 7.1e-03
ovarian cancer 1.800 3.3e-04

Protein-protein Interaction (11)

Gene RIF (13)

25087164 We propose testing for the R446* mutation in PDHX as a rapid first screening in Roma infants with metabolic acidosis.
24935220 MiR-26a regulates glucose metabolism of colorectal cancer cells by direct targeting PDHX.
22766002 New mutation in PDHX gene found in two unrelated patients with Pyruvate dehydrogenase deficiency.
21194677 genetic association with systemic lupus erythematosus to a haplotype between PDHX and CD44 was established.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20800603 Observational study of gene-disease association. (HuGE Navigator)
17024456 PDHX-assisted photosensitization with rose Bengal induces structural and functional alteration of mitochondria in HeLa cells.
16629643 Despite the presence of antibodies reactive with PDC-E3BP in the majority of primary biliary cirrhosis (PBC) patients this self-protein is not a dominant T-cell autoantigen in PBC.
16566017 These data provide an additional case of E3BP deficiency with a unique and previously unreported deletion in the PDHX gene.
16442803 A cluster of disease-causing E3 mutations located near the center of the E3BD/E3 interface prevents the efficient recruitment of these E3 variants by E3BP into the PDC, leading to the dysfunction of the PDC catalytic machine.
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
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
12372595 determination that PDH and complex III exist at a steady-state ratio of 1:100, 1:128 and 1:202 in HeLa cell extracts, fibroblast mitochondria and heart tissue mitochondria, respectively

AA Sequence

KANLENPIRLA                                                               491 - 501

Text Mined References (41)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25525879 2014 Sirtuin 4 is a lipoamidase regulating pyruvate dehydrogenase complex activity.
25416956 2014 A proteome-scale map of the human interactome network.
25087164 Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
24935220 2014 MicroRNA-26a regulates glucose metabolism by direct targeting PDHX in colorectal cancer cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22766002 2012 Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21269460 2011 Initial characterization of the human central proteome.
21194677 2011 Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
16904023 2006 Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.
16843025 A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
16629643 2006 PDC-E3BP is not a dominant T-cell autoantigen in primary biliary cirrhosis.
16566017 2006 Leigh's disease due to a new mutation in the PDHX gene.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16442803 2006 Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16263718 2006 How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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.
12816949 2003 Facilitated interaction between the pyruvate dehydrogenase kinase isoform 2 and the dihydrolipoyl acetyltransferase.
12676647 2003 Recent advances in mechanisms regulating glucose oxidation at the level of the pyruvate dehydrogenase complex by PDKs.
12573248 2003 Formation of functional heterodimers by isozymes 1 and 2 of pyruvate dehydrogenase kinase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12372595 2002 Quantitative proteomics: the copy number of pyruvate dehydrogenase is more than 10(2)-fold lower than that of complex III in human mitochondria.
11935326 2002 Pyruvate dehydrogenase E3 binding protein deficiency.
10568747 1999 A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1.
9467010 1998 Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
9399911 1997 Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
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.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
8584393 1996 Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia.
7864652 1995 Recombinant expression and evaluation of the lipoyl domains of the dihydrolipoyl acetyltransferase component of the human pyruvate dehydrogenase complex.
7273846 1981 The glucose-lactic acid cycle and gluconeogenesis.
2112155 1990 Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.