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Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), transcript variant 1, mRNA.


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

*Business Day

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RefSeq Version NM_000925.3, 291084856
Length 1544 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), 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(39)-g, cdbSNP:367624729
complement(53)-t, cdbSNP:201470762
complement(56)-g, adbSNP:200470565
complement(81)-t, cdbSNP:202185395
complement(91)-dbSNP:
complement(91)-g, adbSNP:375651141
175+dbSNP:
175+c, tdbSNP:11542399
181+a, gdbSNP:11542403
complement(191)-t, cdbSNP:111470467
complement(193)-g, adbSNP:367846961
206+c, tdbSNP:11542400
complement(241)-t, cdbSNP:138621975
complement(246)-t, cdbSNP:200879699
complement(254)-dbSNP:
complement(254)-g, adbSNP:373124742
complement(259)-t, cdbSNP:150167131
324+dbSNP:
324+a, gdbSNP:11542401
complement(331)-g, adbSNP:138128142
complement(353)-dbSNP:
complement(353)-c, adbSNP:201199166
complement(366)-g, cdbSNP:75997072
complement(370)-t, cdbSNP:370951271
complement(433)-g, adbSNP:192604927
438+a, gdbSNP:28935769
complement(469)-t, cdbSNP:151247980
complement(478)-t, cdbSNP:4264746
complement(481..482)-, tdbSNP:200687616
481+a, gdbSNP:1126551
complement(491)-c, adbSNP:139242990
complement(535)-g, adbSNP:200016955
complement(550)-g, adbSNP:143765288
complement(607)-t, cdbSNP:146996786
complement(636)-dbSNP:
complement(636)-g, adbSNP:35514615
681..682+c, tdbSNP:4071983
complement(741)-t, cdbSNP:146343258
complement(785)-dbSNP:
complement(785)-g, adbSNP:138764163
complement(869)-dbSNP:
complement(869)-t, cdbSNP:372743787
complement(884)-c, adbSNP:148957406
complement(895)-g, cdbSNP:369190855
complement(902)-t, cdbSNP:202236415
complement(905)-t, gdbSNP:376110096
complement(909)-g, adbSNP:371393276
935+a, cdbSNP: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(1033)-g, adbSNP:267599918
complement(1034)-g, adbSNP:267599917
complement(1050)-t, cdbSNP:368051123
complement(1072)-t, cdbSNP:149830613
complement(1073)-t, cdbSNP:386576617
complement(1130)-g, cdbSNP:374476885
complement(1145)-t, cdbSNP:370072205
1215+a, cdbSNP:4228
1222+c, g, tdbSNP:7230
complement(1235)-t, gdbSNP:140169849
complement(1298)-g, adbSNP:369712686
complement(1324)-g, adbSNP:375277648
1327+c, gdbSNP:146644840
1366+a, cdbSNP:1126722
complement(1376)-g, adbSNP:367907119
1419+c, gdbSNP:7231
1476+c, tdbSNP:1126735
1479+a, gdbSNP: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_001173468 Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), transcript variant 2, mRNA. On-demand $549.00 14
NM_000925 Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), transcript variant 1, mRNA. In-stock $418.00 $369.00 10
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL and O'Brien SJ.
Journal PLoS ONE 5 (9), E12862 (2010)
Title PDH E1beta deficiency with novel mutations in two patients with Leigh syndrome .
Author Quintana E, Mayr JA, Garcia Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W and Briones P.
Journal J. Inherit. Metab. Dis. 32 (SUPPL 1), S339-S343 (2009)
Title Structural basis for inactivation of the human pyruvate dehydrogenase complex by phosphorylation: role of disordered phosphorylation loops .
Author Kato M, Wynn RM, Chuang JL, Tso SC, Machius M, Li J and Chuang DT.
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 LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS and Kerr DS.
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 LG and Patel MS.
Journal FEBS Lett. 582 (3), 468-472 (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 HF and Robinson BH.
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 TL, Casazza JP, Huh JW, Chi YT and Song BJ.
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 MS.
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 BJ, Huh TL, Chi YT, Veech RL and McBride OW.
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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