Pyruvate Dehydrogenase Beta (PDHb)

PDH-B; PHE1B; PHE1-B; Pyruvate Dehydrogenase(lipoamide)Beta

SPN	U918
HGNC	8808
MGI	1915513
PubMed	6300332
RGD	1359146
UniProt	P11177
Wiki	PDHB

Koike et al. (1988) cloned and sequenced cDNAs encoding the alpha and the beta subunits. Theoretically, there may be 2 forms of pyruvate dehydrogenase deficiency, one with mutation in the PDHA gene and one with mutation in the PDHB gene. Ho et al. (1988) isolated a 1.5-kb cDNA clone for the beta subunit of E1 from a human liver gamma-gt11 cDNA library using anti-E1 serum. Using a cDNA probe, Olson et al. (1990) demonstrated that the PHE1B gene is located on 3p13-q23. Koike et al. (1990) described the molecular cloning of the entire human PHE1B gene, its characterization by restriction enzyme analysis, and its complete nucleotide sequence. The gene is composed of 10 exons and 9 introns. All intron-exon splice junctions follow the GT/AG rule. The Alu family was found in introns 2 and 8.

Reference

"Cloning and cDNA sequence of the beta-subunit component of human pyruvate dehydrogenase complex."
Gene 86:297-302(1990) [PubMed] [Europe PMC] [Abstract]

"Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex."
Eur. J. Biochem. 194:587-592(1990) [PubMed] [Europe PMC] [Abstract]

"Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast."
J. Biol. Chem. 265:13320-13326(1990) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning and characterization of human pyruvate dehydrogenase beta subunit gene."
Proc. Natl. Acad. Sci. U.S.A. 87:5594-5597(1990) [PubMed] [Europe PMC] [Abstract]

"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]

"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence, annotation and analysis of human chromosome 3."
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]

"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]

"Identification of a cDNA clone for the beta-subunit of the pyruvate dehydrogenase component of human pyruvate dehydrogenase complex."
Biochem. Biophys. Res. Commun. 150:904-908(1988) [PubMed] [Europe PMC] [Abstract]

"The human myocardial two-dimensional gel protein database: update 1994."
Electrophoresis 15:1459-1465(1994) [PubMed] [Europe PMC] [Abstract]

"Isolation of tryptic fragment of antigen from mitochondrial inner membrane proteins reacting with antimitochondrial antibody in sera of patients with primary biliary cirrhosis."
Hepatology 11:16-23(1990) [PubMed] [Europe PMC] [Abstract]

"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]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"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]

"Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency."
Hum. Genet. 115:123-127(2004) [PubMed] [Europe PMC] [Abstract]