Property Summary

NCBI Gene PubMed Count 36
PubMed Score 248.14
PubTator Score 155.82

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma 1.600 1.6e-07
osteosarcoma -1.704 1.0e-04
medulloblastoma, large-cell 1.400 3.2e-04
hereditary spastic paraplegia -1.298 6.8e-03
non-small cell lung cancer 1.170 3.6e-14
intraductal papillary-mucinous neoplasm ... 2.100 1.5e-03
lung cancer 2.300 1.7e-05
lung adenocarcinoma 1.173 1.9e-07
Pick disease -1.300 4.3e-05
ovarian cancer 1.600 2.2e-05
dermatomyositis -1.200 5.8e-03

Protein-protein Interaction (12)

Gene RIF (19)

PMID Text
26753982 DLAT interacts with C1QBP in mitochondria.
25043065 ongoing activation of PDCE2-specific B-cells in primary biliary cirrhosis
25042803 Results show that DLAT and ACAT2 as upstream acetyltransferases of K76 and K294 in 6PGD protein.
23543758 These findings were used to identify potentially antigenic sequences within PDC-E2 (an important hepatic autoantigen) that contain a DR0801 motif.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20800603 Observational study of gene-disease association. (HuGE Navigator)
20673868 Observational study of gene-disease association. (HuGE Navigator)
20452482 Observational study of gene-disease association. (HuGE Navigator)
20361979 Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly
20180236 Data suggest that the catalytic site of pyruvate dehydrogenase complex E2 rather than the previously reported lipoyl binding peptide may contain immunodominant epitopes recognized by antimitochondrial antibodies in primary biliary cirrhosis.
19240061 Observational study of gene-disease association. (HuGE Navigator)
19185000 tissue specificity of the autoimmune injury in primary biliary cirrhosis is a consequence of the unique characteristics of HIBECs during apoptosis and can be explained by exposure to immune system of intact immunoreactive PDC-E2 within apoptotic blebs.
18206651 Species specificity in the interaction between hE1beta and hE2 in pyruvate dehydrogenase complex.
17068145 epitope specificity of these PDC-E2 autoantibodies was distinctive suggesting that the mechanisms leading to loss of tolerance in the transplantation patients are distinct from primary biliary cirrhosis
16049940 This study report two unrelated patients with pyruvate dehydrogenase deficiency caused by defects in the E2 subunit.
15120760 Having found that there is an excellent and almost unique match between the PDC-E2 autoepitope and a sequence in mycobacterial hsp65s, we tested the corresponding peptides for cross-reactivity using sera from 90 Spanish and British PBC patients.
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
12816949 study of facilitated interaction between the pyruvate dehydrogenase kinase isoform 2 and the dihydrolipoyl acetyltransferase
12395322 a novel HLA-A*0201-restricted epitope PDC-E2 165 to 174 was defined in patients with primary biliary cirrhosis.

AA Sequence

MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPR      1 - 70
NRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESL     71 - 140
EECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQA    141 - 210
PGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEG    211 - 280
TRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAG    281 - 350
PKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVF    351 - 420
TDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLK    421 - 490
VPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQG    491 - 560
GTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQ    561 - 630
WLAEFRKYLEKPITMLL                                                         631 - 647
//

Text Mined References (44)

PMID Year Title
26753982 2016 Identification of a novel mitochondrial interacting protein of C1QBP using subcellular fractionation coupled with CoIP-MS.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25525879 2014 Sirtuin 4 is a lipoamidase regulating pyruvate dehydrogenase complex activity.
25043065 2014 Ongoing activation of autoantigen-specific B cells in primary biliary cirrhosis.
25042803 2014 Lysine acetylation activates 6-phosphogluconate dehydrogenase to promote tumor growth.
23543758 2013 Differential binding of pyruvate dehydrogenase complex-E2 epitopes by DRB1*08:01 and DRB1*11:01 Is predicted by their structural motifs and correlates with disease risk.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
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.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20673868 2010 A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).
20452482 2010 Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.
20361979 2010 Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly.
20180236 2010 Catalytic domain of PDC-E2 contains epitopes recognized by antimitochondrial antibodies in primary biliary cirrhosis.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19185000 2009 Apotopes and the biliary specificity of primary biliary cirrhosis.
18387944 2008 Structural and functional insights into the molecular mechanisms responsible for the regulation of pyruvate dehydrogenase kinase 2.
18206651 2008 Binding of pyruvate dehydrogenase to the core of the human pyruvate dehydrogenase complex.
17683942 2007 Distinct structural mechanisms for inhibition of pyruvate dehydrogenase kinase isoforms by AZD7545, dichloroacetate, and radicicol.
17532006 2007 Crystal structure of an asymmetric complex of pyruvate dehydrogenase kinase 3 with lipoyl domain 2 and its biological implications.
17068145 2007 Differential epitope mapping of antibodies to PDC-E2 in patients with hematologic malignancies after allogeneic hematopoietic stem cell transplantation and primary biliary cirrhosis.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16049940 2005 Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
15861126 2005 Crystal structure of pyruvate dehydrogenase kinase 3 bound to lipoyl domain 2 of human pyruvate dehydrogenase complex.
15120760 2004 Disease-specific cross-reactivity between mimicking peptides of heat shock protein of Mycobacterium gordonae and dominant epitope of E2 subunit of pyruvate dehydrogenase is common in Spanish but not British patients with primary biliary cirrhosis.
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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12395322 2002 Comprehensive mapping of HLA-A0201-restricted CD8 T-cell epitopes on PDC-E2 in primary biliary cirrhosis.
11978179 2002 Interaction between the individual isoenzymes of pyruvate dehydrogenase kinase and the inner lipoyl-bearing domain of transacetylase component of pyruvate dehydrogenase complex.
9649469 1998 Three-dimensional structure of the major autoantigen in primary biliary cirrhosis.
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.
9045657 1997 Assembly and full functionality of recombinantly expressed dihydrolipoyl acetyltransferase component of the human pyruvate dehydrogenase complex.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
8102256 1993 Chromosome localization and RFLP analysis of PDC-E2: the major autoantigen of primary biliary cirrhosis.
7273846 1981 The glucose-lactic acid cycle and gluconeogenesis.
3191998 1988 Nucleotide sequence of a cDNA for the dihydrolipoamide acetyltransferase component of human pyruvate dehydrogenase complex.
3174635 1988 Primary structure of the human M2 mitochondrial autoantigen of primary biliary cirrhosis: dihydrolipoamide acetyltransferase.
3036145 1987 Isolation of a cDNA clone for the dihydrolipoamide acetyltransferase component of the human liver pyruvate dehydrogenase complex.
2317220 1990 Nucleotide sequence of a cDNA encoding the lipoate acetyl transferase (E2) of human heart pyruvate dehydrogenase complex differs from that of human placenta.