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Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000925 Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

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RefSeq Version NM_000925.3, 291084856
Length 1544 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
Product pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 1 precursor
Comment

Summary: The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012].


Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).

RefSeq NP_000916.2
CDS 44..1123
Misc Feature(1)59..1111
Misc Feature(2)152..652
Misc Feature(3)order(194..196,200..202,218..220,284..286,293..295,
Misc Feature(4)order(215..217,302..304,308..310,386..388,395..397)
Misc Feature(5)order(218..220,293..295,299..310,392..397,401..403,
Misc Feature(6)719..1087
Exon (1)1..85
Gene:PDHB
Gene Synonym:PDHBD; PDHE1-B; PHE1B
Exon (2)86..139
Gene:PDHB
Gene Synonym:PDHBD; PDHE1-B; PHE1B
Exon (3)140..247
Gene:PDHB
Gene Synonym:PDHBD; PDHE1-B; PHE1B
Exon (4)248..310
Gene:PDHB
Gene Synonym:PDHBD; PDHE1-B; PHE1B
Exon (5)311..346
Gene:PDHB
Gene Synonym:PDHBD; PDHE1-B; PHE1B
Exon (6)347..632
Gene:PDHB
Gene Synonym:PDHBD; PDHE1-B; PHE1B
Exon (7)633..743
Gene:PDHB
Gene Synonym:PDHBD; PDHE1-B; PHE1B
Exon (8)744..835
Gene:PDHB
Gene Synonym:PDHBD; PDHE1-B; PHE1B
Exon (9)836..977
Gene:PDHB
Gene Synonym:PDHBD; PDHE1-B; PHE1B
Exon (10)978..1527
Gene:PDHB
Gene Synonym:PDHBD; PDHE1-B; PHE1B
Translation MAAVSGLVRRPLREVSGLLKRRFHWTAPAALQVTVRDAINQGMDEELERDEKVFLLGEEV AQYDGAYKVSRGLWKKYGDKRIIDTPISEMGFAGIAVGAAMAGLRPICEFMTFNFSMQAI DQVINSAAKTYYMSGGLQPVPIVFRGPNGASAGVAAQHSQCFAAWYGHCPGLKVVSPWNS EDAKGLIKSAIRDNNPVVVLENELMYGVPFEFPPEAQSKDFLIPIGKAKIERQGTHITVV SHSRPVGHCLEAAAVLSKEGVECEVINMRTIRPMDMETIEASVMKTNHLVTVEGGWPQFG VGAEICARIMEGPAFNFLDAPAVRVTGADVPMPYAKILEDNSIPQVKDIIFAIKKTLNI
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Position Chain Variation Link
complement(18)-dbSNP:
complement(18)-t, cdbSNP:201243189
complement(53)-t, cdbSNP:201470762
complement(56)-g, adbSNP:200470565
complement(81)-t, cdbSNP:202185395
complement(175)-dbSNP:
complement(175)-t, cdbSNP:11542399
complement(181)-g, adbSNP:11542403
complement(191)-t, cdbSNP:111470467
complement(206)-t, cdbSNP:11542400
complement(241)-t, cdbSNP:138621975
complement(246)-t, cdbSNP:200879699
complement(259)-dbSNP:
complement(259)-t, cdbSNP:150167131
complement(324)-dbSNP:
complement(324)-g, adbSNP:11542401
complement(331)-g, adbSNP:138128142
complement(353)-dbSNP:
complement(353)-c, adbSNP:201199166
complement(366)-g, cdbSNP:75997072
complement(433)-g, adbSNP:192604927
complement(438)-g, adbSNP:28935769
complement(469)-t, cdbSNP:151247980
complement(478)-t, cdbSNP:4264746
complement(481..482)-, tdbSNP:200687616
complement(481)-g, adbSNP:1126551
complement(483)-g, cdbSNP:144039886
complement(491)-c, adbSNP:139242990
complement(520)-t, gdbSNP:148198814
complement(535)-g, adbSNP:200016955
complement(550)-g, adbSNP:143765288
complement(607)-t, cdbSNP:146996786
complement(636)-dbSNP:
complement(636)-g, adbSNP:35514615
complement(681)-t, cdbSNP:4071983
complement(682)-t, cdbSNP:4071984
complement(741)-t, cdbSNP:146343258
complement(785)-dbSNP:
complement(785)-g, adbSNP:138764163
complement(884)-dbSNP:
complement(884)-c, adbSNP:148957406
complement(902)-t, cdbSNP:202236415
complement(935)-c, adbSNP:13446
complement(940)-g, adbSNP:145795547
complement(958)-t, gdbSNP:140921216
complement(959)-g, adbSNP:145876456
complement(960)-g, cdbSNP:140744404
complement(980)-dbSNP:
complement(980)-g, cdbSNP:201105914
complement(985)-c, adbSNP:148770511
complement(999)-t, adbSNP:199983136
complement(1072)-t, cdbSNP:149830613
complement(1073)-t, cdbSNP:28933391
complement(1215)-c, adbSNP:4228
complement(1222)-t, g, cdbSNP:7230
complement(1235)-t, gdbSNP:140169849
complement(1327)-g, cdbSNP:146644840
complement(1366)-c, adbSNP:1126722
complement(1419)-g, cdbSNP:7231
complement(1419)-g, cdbSNP:118200595
complement(1476)-t, cdbSNP:1126735
complement(1479)-g, adbSNP:1126737
Gene SymbolPDHB
Gene SynonymPDHBD; PDHE1-B; PHE1B
Chromosome3
Locus Map3p21.1-p14.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000925 Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. In-stock $418.00 $369.00 10
NM_001173468 Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. On-demand $549.00 14
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
Journal PLoS ONE 5 (9), E12862 (2010)
Title Structural basis for inactivation of the human pyruvate dehydrogenase complex by phosphorylation: role of disordered phosphorylation loops .
Author Kato,M., Wynn,R.M., Chuang,J.L., Tso,S.C., Machius,M., Li,J. and Chuang,D.T.
Journal Structure 16 (12), 1849-1859 (2008)
Title Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency .
Author Okajima,K., Korotchkina,L.G., Prasad,C., Rupar,T., Phillips,J.A. III, Ficicioglu,C., Hertecant,J., Patel,M.S. and Kerr,D.S.
Journal Mol. Genet. Metab. 93 (4), 371-380 (2008)
Title Binding of pyruvate dehydrogenase to the core of the human pyruvate dehydrogenase complex .
Author Korotchkina,L.G. and Patel,M.S.
Journal FEBS Lett. 582 (3), 468-472 (2008)
Title Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit .
Author Han,Z., Zhong,L., Srivastava,A. and Stacpoole,P.W.
Journal J. Biol. Chem. 283 (1), 237-243 (2008)
Title Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex .
Author Chun,K., Mackay,N., Willard,H.F. and Robinson,B.H.
Journal Eur. J. Biochem. 194 (2), 587-592 (1990)
Title Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast .
Author Huh,T.L., Casazza,J.P., Huh,J.W., Chi,Y.T. and Song,B.J.
Journal J. Biol. Chem. 265 (22), 13320-13326 (1990)
Title Cloning and cDNA sequence of the beta-subunit component of human pyruvate dehydrogenase complex .
Author Ho,L. and Patel,M.S.
Journal Gene 86 (2), 297-302 (1990)
Title Three genes for enzymes of the pyruvate dehydrogenase complex map to human chromosomes 3, 7, and X .
Author Olson,S., Song,B.J., Huh,T.L., Chi,Y.T., Veech,R.L. and McBride,O.W.
Journal Am. J. Hum. Genet. 46 (2), 340-349 (1990)
Title Isolation of tryptic fragment of antigen from mitochondrial inner membrane proteins reacting with antimitochondrial antibody in sera of patients with primary biliary cirrhosis .
Author Muno,D., Kominami,E., Ishii,H., Usui,K., Saifuku,K., Sakakibara,Y. and Namihisa,T.
Journal Hepatology 11 (1), 16-23 (1990)


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