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Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000284 Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

*Business Day

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RefSeq Version NM_000284.3, 291084749
Length 3390 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, 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)317..1255
Misc Feature(2)335..1204
Misc Feature(3)order(407..409,563..565,638..643,734..736,740..751,
Misc Feature(4)order(497..502,638..640,644..646,728..739,818..820,
Misc Feature(5)order(623..625,629..631,635..637,650..652,659..664,
Misc Feature(6)839..841
Misc Feature(7)839..841
Misc Feature(8)839..841
Misc Feature(9)839..841
Misc Feature(10)839..841
Misc Feature(11)order(1004..1024,1028..1060,1085..1093)
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)1022..1024
Misc Feature(18)1043..1045
Misc Feature(19)1043..1045
Misc Feature(20)1043..1045
Misc Feature(21)1043..1045
Misc Feature(22)1043..1045
Misc Feature(23)1046..1048
Misc Feature(24)1106..1108
Misc Feature(25)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
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
652+dbSNP:
652+a, gdbSNP:141862527
760+dbSNP:
760+c, gdbSNP:137853254
793+a, cdbSNP:121917898
805+c, tdbSNP:145621243
838+a, gdbSNP:138237215
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
1008+a, gdbSNP:137853258
1049+dbSNP:
1049+c, tdbSNP:137853252
1072+a, cdbSNP:200088791
1082..1084+, gdbSNP:137853251
1088+a, gdbSNP:137853256
1144+a, cdbSNP:2228067
1207+dbSNP:
1207+g, tdbSNP:147510382
1259+a, gdbSNP:199879809
1278+a, gdbSNP:137853250
1304+a, cdbSNP:201156613
1333+c, gdbSNP:200547574
1357+c, tdbSNP:111666443
1400+a, gdbSNP:11554112
1408+a, tdbSNP:147338122
1428+c, tdbSNP:709610
1431+c, gdbSNP:182754597
1452+a, cdbSNP:187360934
1607..1613+, ccagccadbSNP:200632554
1637+g, tdbSNP:1042449
1640+a, gdbSNP:1042450
1710+a, gdbSNP:56318063
1715..1716+, catdbSNP:144356124
1716..1717+, atc, catdbSNP:72116174
1716..1717+, catdbSNP:71904180
1718..1719+, cadbSNP:199685000
1767..1779+, tttaaaataagacdbSNP:201758797
1784+g, tdbSNP:183744566
1825..1826+, ttagtdbSNP:113050549
1867+a, gdbSNP:187525386
1893+c, tdbSNP:191995452
1932+g, tdbSNP:5955761
2025+a, gdbSNP:150945967
2046+c, tdbSNP:1042452
2162+a, gdbSNP:1042453
2175+a, gdbSNP:182836908
2181+c, tdbSNP:187083263
2182+a, gdbSNP:192450087
2256+a, tdbSNP:184532061
2331+a, cdbSNP:1042456
2339+a, gdbSNP:140383712
2377+a, gdbSNP:15816
2447+a, gdbSNP:140145114
2450+c, gdbSNP:145675672
2451+c, tdbSNP:61744590
2459+c, tdbSNP:56021619
2470+c, tdbSNP:147753175
2510..2511+, acdbSNP:202102403
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
2983+, adbSNP:67255823
3000+c, tdbSNP:55744630
3011+a, gdbSNP:148399187
3022+a, gdbSNP:142533585
3035+g, tdbSNP:150957359
3054+c, tdbSNP:140779387
3068+c, tdbSNP:144734730
3122+, adbSNP:67116203
3187+c, gdbSNP:15943
3234+c, gdbSNP:140380348
3337+c, tdbSNP:181554208
Gene SymbolPDHA1
Gene SynonymPDHA; PDHCE1A; PHE1A
ChromosomeX
Locus MapXp22.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000284 Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. In-stock $418.00 $369.00 10
NM_001173454 Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. On-demand $699.00 18
NM_001173455 Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. On-demand $549.00 14
NM_001173456 Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. On-demand $549.00 14
Title Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1alpha subunit genes in human spermatogenesis .
Author Pinheiro,A., Silva,M.J., 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,F.M., 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,M.J., Connolly,D.J. and Mordekar,S.R.
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,H.O., Barnerias,C., Mine,M., Marsac,C., Saudubray,J.M. and Brivet,M.
Journal Mol. Genet. Metab. 104 (4), 507-516 (2011)
Title Erk regulation of pyruvate dehydrogenase flux through PDK4 modulates cell proliferation .
Author Grassian,A.R., Metallo,C.M., Coloff,J.L., Stephanopoulos,G. and Brugge,J.S.
Journal Genes Dev. 25 (16), 1716-1733 (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,A.H., 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,H.H., Brown,G.K., Brown,R.M., Hansen,L.L., Kerr,D.S., Wexler,I.D., Patel,M.S., De Meirleir,L., Lissens,W., Chun,K. et al.
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,H.H., Hansen,L.L., Brown,R.M., Danks,D.M., Rogers,J.G. and Brown,G.K.
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,B.H.
Journal Am. J. Hum. Genet. 49 (2), 414-420 (1991)


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