≡

Pyruvate dehydrogenase alpha 1 (PDHA1)

[Edit]

PDHCE1A; PHE1A; PHE1-A; PDHa; PDH-A; Pyruvate Dehydrogenase(lipoamide)Alpha 1; Pyruvate Dehydrogenase E1 Component Subunit Alpha,Aomatic Form,Mitochondrial; Pyruvate Dehydrogenase Alpha

Pyruvate dehydrogenase alpha 1 (PDHA1)
CCC A776
HGNC 8806
MGI 97532
PubMed 20002461
RGD 3286
UniProt P08559
Wiki PDHA1

The pyruvate dehydrogenase complex is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA. The PDH complex is composed of multiple copies of 3 enzymes: E1 (PDHA1); dihydrolipoyl transacetylase (DLAT) (E2); and dihydrolipoyl dehydrogenase (DLD) (E3). The E1 enzyme is a heterotetramer of 2 alpha and 2 beta subunits. The E1-alpha subunit contains the E1 active site and plays a key role in the function of the PDH complex .Pyruvate dehydrogenase (E1) performs the first two reactions within the pyruvate dehydrogenase complex (PDC): a decarboxylation of substrate 1 (pyruvate) and a reductive acetylation of substrate 2 (lipoic acid).

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA776Hu01 Recombinant Pyruvate dehydrogenase alpha 1 (PDHA1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA776Hu01 Polyclonal Antibody to Pyruvate dehydrogenase alpha 1 (PDHA1) WB; IHC; ICC; IP.
MAA776Hu22 Monoclonal Antibody to Pyruvate dehydrogenase alpha 1 (PDHA1) WB; IHC; ICC; IP.
Assay Kits SEA776Hu ELISA Kit for Pyruvate dehydrogenase alpha 1 (PDHA1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA776Mu01 Recombinant Pyruvate dehydrogenase alpha 1 (PDHA1) Positive Control; Immunogen; SDS-PAGE; WB.
RPA776Mu02 Recombinant Pyruvate dehydrogenase alpha 1 (PDHA1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA776Mu01 Polyclonal Antibody to Pyruvate dehydrogenase alpha 1 (PDHA1) WB; IHC; ICC; IP.
PAA776Mu02 Polyclonal Antibody to Pyruvate dehydrogenase alpha 1 (PDHA1) WB; IHC; ICC; IP.
Assay Kits SEA776Mu ELISA Kit for Pyruvate dehydrogenase alpha 1 (PDHA1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA776Ra01 Recombinant Pyruvate dehydrogenase alpha 1 (PDHA1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA776Ra01 Polyclonal Antibody to Pyruvate dehydrogenase alpha 1 (PDHA1) WB; IHC; ICC; IP.
MAA776Ra21 Monoclonal Antibody to Pyruvate dehydrogenase alpha 1 (PDHA1) WB; IHC; ICC; IP.
Assay Kits SEA776Ra ELISA Kit for Pyruvate dehydrogenase alpha 1 (PDHA1) Enzyme-linked immunosorbent assay for Antigen Detection.
  1. "Characterization and nucleotide sequence of the gene encoding the human pyruvate dehydrogenase alpha-subunit."Gene 93:307-311(1990) [PubMed] [Europe PMC] [Abstract]
  2. "Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit."Proc. Natl. Acad. Sci. U.S.A. 86:5330-5334(1989) [PubMed] [Europe PMC] [Abstract]
  3. "The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA."J. Biol. Chem. 262:7398-7403(1987) [PubMed] [Europe PMC] [Abstract]
  4. "Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex."J. Biol. Chem. 264:12294-12298(1989) [PubMed] [Europe PMC] [Abstract]
  5. "Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex."J. Biol. Chem. 263:1991-1995(1988) [PubMed] [Europe PMC] [Abstract]
  6. "Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase."Proc. Natl. Acad. Sci. U.S.A. 85:41-45(1988) [PubMed] [Europe PMC] [Abstract]
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  8. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Experimental determination of organelle targeting-peptide cleavage sites using transient expression of green fluorescent protein translational fusions."Anal. Biochem. 434:44-51(2013) [PubMed] [Europe PMC] [Abstract]
  11. "X chromosome evidence for ancient human histories."Proc. Natl. Acad. Sci. U.S.A. 96:3320-3324(1999) [PubMed] [Europe PMC] [Abstract]
  12. "Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein."J. Inherit. Metab. Dis. 15:848-856(1992) [PubMed] [Europe PMC] [Abstract]
  13. "Mutagenesis studies of the phosphorylation sites of recombinant human pyruvate dehydrogenase. Site-specific regulation."J. Biol. Chem. 270:14297-14304(1995) [PubMed] [Europe PMC] [Abstract]
  14. "Site specificity of four pyruvate dehydrogenase kinase isoenzymes toward the three phosphorylation sites of human pyruvate dehydrogenase."J. Biol. Chem. 276:37223-37229(2001) [PubMed] [Europe PMC] [Abstract]
  15. "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."J. Biol. Chem. 279:6921-6933(2004) [PubMed] [Europe PMC] [Abstract]
  16. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  17. "Phosphoproteome of resting human platelets."J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
  18. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  19. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  20. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  21. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  22. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  23. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  24. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  25. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  26. "Structural basis for flip-flop action of thiamin pyrophosphate-dependent enzymes revealed by human pyruvate dehydrogenase."J. Biol. Chem. 278:21240-21246(2003) [PubMed] [Europe PMC] [Abstract]
  27. "Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene."Hum. Mutat. 1:97-102(1992) [PubMed] [Europe PMC] [Abstract]
  28. "Phosphorylation of serine 264 impedes active site accessibility in the E1 component of the human pyruvate dehydrogenase multienzyme complex."Biochemistry 46:6277-6287(2007) [PubMed] [Europe PMC] [Abstract]
  29. "Structural basis for inactivation of the human pyruvate dehydrogenase complex by phosphorylation: role of disordered phosphorylation loops."Structure 16:1849-1859(2008) [PubMed] [Europe PMC] [Abstract]
  30. "Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency."J. Inherit. Metab. Dis. 14:140-151(1991) [PubMed] [Europe PMC] [Abstract]
  31. "Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit."Hum. Genet. 88:649-652(1992) [PubMed] [Europe PMC] [Abstract]
  32. "X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation."J. Inherit. Metab. Dis. 15:835-847(1992) [PubMed] [Europe PMC] [Abstract]
  33. "Molecular genetic characterization of an X-linked form of Leigh's syndrome."Ann. Neurol. 33:652-655(1993) [PubMed] [Europe PMC] [Abstract]
  34. "Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex."Hum. Mol. Genet. 2:449-454(1993) [PubMed] [Europe PMC] [Abstract]
  35. "Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients."Brain 117:435-443(1994) [PubMed] [Europe PMC] [Abstract]
  36. "Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit."Hum. Mol. Genet. 3:1021-1022(1994) [PubMed] [Europe PMC] [Abstract]
  37. "Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit."Hum. Mutat. 3:152-155(1994) [PubMed] [Europe PMC] [Abstract]
  38. "Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia."J. Inherit. Metab. Dis. 17:189-195(1994) [PubMed] [Europe PMC] [Abstract]
  39. "Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex."Am. J. Hum. Genet. 56:558-569(1995) [PubMed] [Europe PMC] [Abstract]
  40. "An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein."Am. J. Hum. Genet. 57:772-780(1995) [PubMed] [Europe PMC] [Abstract]
  41. "Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit."Hum. Mol. Genet. 4:315-318(1995) [PubMed] [Europe PMC] [Abstract]
  42. "Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency."Hum. Mutat. 7:46-51(1996) [PubMed] [Europe PMC] [Abstract]
  43. "Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS)."Hum. Mutat. 8:180-182(1996) [PubMed] [Europe PMC] [Abstract]
  44. "Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency."J. Inherit. Metab. Dis. 20:539-548(1997) [PubMed] [Europe PMC] [Abstract]
  45. "Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity."Hum. Mutat. 12:114-121(1998) [PubMed] [Europe PMC] [Abstract]
  46. "Diagnostic exome sequencing in persons with severe intellectual disability."N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]