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Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu20621 Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu20621C Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000284.3, 291084749
Length 1173 bp
Structure linear
Update Date 04-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), transcript variant 1, mRNA.
Product pyruvate dehydrogenase E1 component subunit alpha, somatic form, 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 CO(2), 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 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010].


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

RefSeq NP_000275.1
CDS 146..1318
Misc Feature(1)335..1204
Misc Feature(2)order(407..409,563..565,638..643,734..736,740..751,
Misc Feature(3)order(497..502,638..640,644..646,728..739,818..820,
Misc Feature(4)order(623..625,629..631,635..637,650..652,659..664,
Misc Feature(5)839..841
Misc Feature(6)839..841
Misc Feature(7)839..841
Misc Feature(8)839..841
Misc Feature(9)839..841
Misc Feature(10)order(1004..1024,1028..1060,1085..1093)
Misc Feature(11)1022..1024
Misc Feature(12)1022..1024
Misc Feature(13)1022..1024
Misc Feature(14)1022..1024
Misc Feature(15)1022..1024
Misc Feature(16)1022..1024
Misc Feature(17)1043..1045
Misc Feature(18)1043..1045
Misc Feature(19)1043..1045
Misc Feature(20)1043..1045
Misc Feature(21)1043..1045
Misc Feature(22)1046..1048
Misc Feature(23)1106..1108
Misc Feature(24)1250..1252
Exon (1)1..202
Gene:PDHA1
Gene Synonym:PDHA; PDHCE1A; PHE1A
Exon (2)203..262
Gene:PDHA1
Gene Synonym:PDHA; PDHCE1A; PHE1A
Exon (3)263..436
Gene:PDHA1
Gene Synonym:PDHA; PDHCE1A; PHE1A
Exon (4)437..563
Gene:PDHA1
Gene Synonym:PDHA; PDHCE1A; PHE1A
Exon (5)564..655
Gene:PDHA1
Gene Synonym:PDHA; PDHCE1A; PHE1A
Exon (6)656..748
Gene:PDHA1
Gene Synonym:PDHA; PDHCE1A; PHE1A
Exon (7)749..904
Gene:PDHA1
Gene Synonym:PDHA; PDHCE1A; PHE1A
Exon (8)905..976
Gene:PDHA1
Gene Synonym:PDHA; PDHCE1A; PHE1A
Exon (9)977..1044
Gene:PDHA1
Gene Synonym:PDHA; PDHCE1A; PHE1A
Exon (10)1045..1153
Gene:PDHA1
Gene Synonym:PDHA; PDHCE1A; PHE1A
Exon (11)1154..3372
Gene:PDHA1
Gene Synonym:PDHA; PDHCE1A; PHE1A
Translation MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTRED GLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRA HGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALA CKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAAST DYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVS YRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPP LEELGYHIYSSDPPFEVRGANQWIKFKSVS
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Position Chain Variation Link
48+dbSNP:
48+c, tdbSNP:192773464
58+a, gdbSNP:5955751
137+c, tdbSNP:76809608
174+c, gdbSNP:137853257
242+dbSNP:
242+c, gdbSNP:150318528
279+a, gdbSNP:144967854
299+a, gdbSNP:376746290
315+c, gdbSNP:149083818
397+a, gdbSNP:144828838
482+dbSNP:
482+c, tdbSNP:11554111
508+c, tdbSNP:183170654
524+c, tdbSNP:199959402
551+a, gdbSNP:138727886
628+dbSNP:
628+c, tdbSNP:398123300
652+a, gdbSNP:141862527
760+dbSNP:
760+c, gdbSNP:137853254
793+a, cdbSNP:121917898
838+a, gdbSNP:138237215
842+a, gdbSNP:372505888
872+a, tdbSNP:137853255
918+dbSNP:
918+a, cdbSNP:137853253
929+a, gdbSNP:202166915
932+c, gdbSNP:137853259
940+a, c, gdbSNP:1126565
943+a, gdbSNP:35752213
989+a, cdbSNP:2229137
999+a, gdbSNP:373275701
1008+a, gdbSNP:137853258
1049+dbSNP:
1049+c, tdbSNP:137853252
1072+a, cdbSNP:200088791
1082..1084+, aagdbSNP:137853251
1084+a, gdbSNP:374649412
1088+a, gdbSNP:137853256
1144+a, cdbSNP:2228067
1162..1163+dbSNP:
1162..1163+, ttttaggaaattgatdbSNP:367658754
1206+c, tdbSNP:375167721
1207+g, tdbSNP:147510382
1213+c, tdbSNP:369185042
1259+a, gdbSNP:199879809
1278+a, gdbSNP:137853250
1304+a, cdbSNP:201156613
1315+c, tdbSNP:369973813
1333+c, gdbSNP:200547574
1334+a, cdbSNP:373318863
1357+c, tdbSNP:111666443
complement(1400)-g, adbSNP:11554112
1408+a, tdbSNP:147338122
1428+c, tdbSNP:709610
1431+c, gdbSNP:182754597
1452+a, cdbSNP:187360934
1607..1613+, ccagccadbSNP:200632554
1609..1615+, agccaccdbSNP:376636279
1637+g, tdbSNP:1042449
1640+a, gdbSNP:1042450
1681+a, gdbSNP:372658162
1685+a, gdbSNP:375225163
1710+a, gdbSNP:56318063
1715..1716+, catdbSNP:144356124
1716..1717+, atc, catdbSNP:72116174
1718..1719+, ca, catdbSNP:199685000
1744+a, tdbSNP:369332453
1767..1779+, tttaaaataagacdbSNP:201758797
1770..1782+, aaaataagactttdbSNP:375651955
1784+g, tdbSNP:183744566
1793..1809+, ccaattttgtaatcattdbSNP:372190247
1825..1826+, ttagtdbSNP:113050549
1867+a, gdbSNP:187525386
1893+c, tdbSNP:191995452
1932+g, tdbSNP:5955761
2025+a, gdbSNP:150945967
2046+c, tdbSNP:1042452
2047+a, gdbSNP:376808450
2162+a, gdbSNP:1042453
2175+a, gdbSNP:182836908
2181+c, tdbSNP:187083263
2182+a, gdbSNP:192450087
2256+a, tdbSNP:184532061
2278+c, tdbSNP:374396566
2331+a, cdbSNP:1042456
2339+a, gdbSNP:140383712
2377+a, gdbSNP:15816
2405..2406+, tgatdbSNP:368571896
2447+a, gdbSNP:140145114
2450+c, gdbSNP:145675672
2451+c, tdbSNP:61744590
2459+c, tdbSNP:56021619
2470+c, tdbSNP:147753175
2510..2511+, acdbSNP:202102403
2526+a, cdbSNP:369499936
2527+a, gdbSNP:373390286
2612+a, cdbSNP:369068280
2629+c, tdbSNP:189054591
2663+a, gdbSNP:193253848
2695+a, gdbSNP:56039350
2712+c, tdbSNP:55856360
2881+c, gdbSNP:7883708
2903+c, tdbSNP:5955550
2916+c, gdbSNP:11094770
2965+a, gdbSNP:201259816
2966+a, gdbSNP:376593530
2980+c, tdbSNP:370565981
3000+c, tdbSNP:55744630
3003+c, gdbSNP:377382652
3011+a, gdbSNP:148399187
3022+a, gdbSNP:142533585
3035+g, tdbSNP:150957359
3036+c, gdbSNP:370651623
3054+c, tdbSNP:140779387
3060+g, tdbSNP:371285733
3068+c, tdbSNP:144734730
3095+a, cdbSNP:373779094
3113+c, tdbSNP:374494282
complement(3187)-g, cdbSNP:15943
3229+c, tdbSNP:368526609
3230+g, tdbSNP:372102191
3234+c, gdbSNP:140380348
3289+g, tdbSNP:375095104
3300+a, cdbSNP:368185128
3337+c, tdbSNP:181554208
Gene SymbolPDHA1
Gene SynonymPDHA; PDHCE1A; PHE1A
ChromosomeX
Locus MapXp22.1
Title HIV-1 Vpr enhances PPARbeta/delta-mediated transcription, increases PDK4 expression, and reduces PDC activity .
Author Shrivastav S, Zhang L, Okamoto K, Lee H, Lagranha C, Abe Y, Balasubramanyam A, Lopaschuk GD, Kino T and Kopp JB.
Journal Mol. Endocrinol. 27 (9), 1564-1576 (2013)
Title Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1alpha subunit genes in human spermatogenesis .
Author Pinheiro A, Silva MJ, Graca I, Silva J, Sa R, Sousa M, Barros A, Tavares de Almeida I and Rivera I.
Journal Gene 506 (1), 173-178 (2012)
Title Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility .
Author Giribaldi G, Doria-Lamba L, Biancheri R, Severino M, Rossi A, Santorelli FM, Schiaffino C, Caruso U, Piemonte F and Bruno C.
Journal Dev Med Child Neurol 54 (5), 472-476 (2012)
Title Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency .
Author Sharma R, Sharrard MJ, Connolly DJ and Mordekar SR.
Journal Dev Med Child Neurol 54 (5), 469-471 (2012)
Title Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein .
Author Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Mine M, Marsac C, Saudubray JM and Brivet M.
Journal Mol. Genet. Metab. 104 (4), 507-516 (2011)
Title Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit .
Author De Meirleir L, Lissens W, Vamos E and Liebaers I.
Journal Hum. Genet. 88 (6), 649-652 (1992)
Title Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein .
Author Ito M, Huq AH, Naito E, Saijo T, Takeda E and Kuroda Y.
Journal J. Inherit. Metab. Dis. 15 (6), 848-856 (1992)
Title Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene .
Author Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel MS, De Meirleir L, Lissens W and Chun K.
Journal Hum. Mutat. 1 (2), 97-102 (1992)
Title X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation .
Author Dahl HH, Hansen LL, Brown RM, Danks DM, Rogers JG and Brown GK.
Journal J. Inherit. Metab. Dis. 15 (6), 835-847 (1992)
Title Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon .
Author Chun K, MacKay N, Petrova-Benedict R and Robinson BH.
Journal Am. J. Hum. Genet. 49 (2), 414-420 (1991)

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