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Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_018444 Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_018444.3, 239985429
Length 4291 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.
Product pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3
Comment

Summary: Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009].


Transcript Variant: This variant (5) lacks an internal segment, compared to variant 2. The difference causes translation initiation at a downstream AUG and results in an isoform (3) with a shorter N-terminus, compared to isoform 2.

RefSeq NP_060914.2
CDS 270..1883
Misc Feature(1)84..86
Misc Feature(2)84..86
Misc Feature(3)594..1589
Misc Feature(4)594..1589
Misc Feature(5)order(627..629,639..644,699..707,1521..1523)
Misc Feature(6)873..875
Exon (1)1..225
Gene:PDP1
Gene Synonym:PDH; PDP; PDPC; PPM2C
Exon (2)226..4278
Gene:PDP1
Gene Synonym:PDH; PDP; PDPC; PPM2C
Translation MPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKE NWWQYTQGRRYASTPQKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPAN APIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLEIENAV ESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAF KRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQE EDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKW SIDLQKRVIESGPDQLNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGL WETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFEDQNAAT HLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE
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Position Chain Variation Link
134+c, tdbSNP:202016823
243+dbSNP:
243+c, tdbSNP:76597597
360+c, tdbSNP:201452113
397+a, gdbSNP:201081450
423+c, tdbSNP:140713866
508+c, tdbSNP:79439881
530+c, tdbSNP:144544236
546+g, tdbSNP:267606938
636+a, cdbSNP:144604949
646+a, gdbSNP:147845975
675+a, cdbSNP:201131767
687+c, tdbSNP:141399719
690+a, gdbSNP:151019488
752+c, tdbSNP:142627080
779+a, tdbSNP:200661557
815+c, tdbSNP:202034256
824+a, gdbSNP:150970864
910+c, tdbSNP:200145429
938+c, tdbSNP:138512618
940+c, tdbSNP:140780685
947+c, gdbSNP:199977411
958+g, tdbSNP:201467137
986+c, gdbSNP:150112501
1022+a, gdbSNP:138553326
1049+c, tdbSNP:140224111
1051+a, gdbSNP:145915456
1124+c, tdbSNP:201021364
1175+c, tdbSNP:138488258
1178+c, tdbSNP:146222349
1182+c, tdbSNP:149633208
1262+a, gdbSNP:200054483
1290+c, gdbSNP:144339806
1511+a, gdbSNP:148348306
1543+a, gdbSNP:200222464
1550+c, gdbSNP:141493326
1686+c, tdbSNP:201132164
1700+c, tdbSNP:147477305
1703+a, gdbSNP:117294206
1715+c, tdbSNP:137975172
1789+c, gdbSNP:145358369
1803+c, tdbSNP:202225648
1827+a, gdbSNP:202145000
1839+c, gdbSNP:147237491
1883+c, gdbSNP:139199750
1908+c, gdbSNP:41272415
1919+c, tdbSNP:4735258
1932+a, cdbSNP:192535454
1934+g, tdbSNP:149521176
1948+a, gdbSNP:144036151
1954+c, tdbSNP:148691545
1976+a, gdbSNP:144473673
2256+c, tdbSNP:185126352
2374+g, tdbSNP:41272417
2392+g, tdbSNP:199846257
2449+c, tdbSNP:78884124
2493+a, gdbSNP:190420045
2512+a, gdbSNP:192629673
2514+c, gdbSNP:911
2522+a, gdbSNP:147461233
2538+a, gdbSNP:185015320
2549+, gdbSNP:139623857
2690+a, cdbSNP:188727327
2793+a, tdbSNP:7461396
2813+a, gdbSNP:180752222
2840+a, gdbSNP:75265995
2885..2886+, gdbSNP:35866235
2890+a, gdbSNP:185360919
3086..3087+, gdbSNP:35793146
3302+a, cdbSNP:201779185
3370+a, tdbSNP:189435075
3447+a, cdbSNP:111728711
3492+a, gdbSNP:186669527
3531+, gdbSNP:145384326
3532+, tdbSNP:60316663
3533+g, tdbSNP:192025344
3619+c, gdbSNP:116788695
3690+a, tdbSNP:77734416
3805+a, tdbSNP:139839619
3978+c, tdbSNP:115434133
4138+c, tdbSNP:183503324
4146+c, tdbSNP:145337691
4219+a, tdbSNP:186410170
4236+g, tdbSNP:190113849
Gene SymbolPDP1
Gene SynonymPDH; PDP; PDPC; PPM2C
Chromosome8
Locus Map8q22.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001161779 Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. On-demand $699.00 18
NM_001161780 Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. On-demand $699.00 18
NM_001161781 Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. On-demand $699.00 18
NM_018444 Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. On-demand $699.00 18
Title Exercise-induced pyruvate dehydrogenase activation is not affected by 7 days of bed rest .
Author Kiilerich,K., Ringholm,S., Bienso,R.S., Fisher,J.P., Iversen,N., van Hall,G., Wojtaszewski,J.F., Saltin,B., Lundby,C., Calbet,J.A. and Pilegaard,H.
Journal J. Appl. Physiol. 111 (3), 751-757 (2011)
Title Crystallization and preliminary crystallographic studies of the catalytic subunits of human pyruvate dehydrogenase phosphatase isoforms 1 and 2 .
Author Kato,J. and Kato,M.
Journal Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 66 (PT 3), 342-345 (2010)
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 Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype .
Author Cameron,J.M., Maj,M., Levandovskiy,V., Barnett,C.P., Blaser,S., Mackay,N., Raiman,J., Feigenbaum,A., Schulze,A. and Robinson,B.H.
Journal Hum. Genet. 125 (3), 319-326 (2009)
Title Decreased PDH activation and glycogenolysis during exercise following fat adaptation with carbohydrate restoration .
Author Stellingwerff,T., Spriet,L.L., Watt,M.J., Kimber,N.E., Hargreaves,M., Hawley,J.A. and Burke,L.M.
Journal Am. J. Physiol. Endocrinol. Metab. 290 (2), E380-E388 (2006)
Title Isoenzymes of pyruvate dehydrogenase phosphatase. DNA-derived amino acid sequences, expression, and regulation .
Author Huang,B., Gudi,R., Wu,P., Harris,R.A., Hamilton,J. and Popov,K.M.
Journal J. Biol. Chem. 273 (28), 17680-17688 (1998)
Title Mutagenesis studies of the phosphorylation sites of recombinant human pyruvate dehydrogenase. Site-specific regulation .
Author Korotchkina,L.G. and Patel,M.S.
Journal J. Biol. Chem. 270 (24), 14297-14304 (1995)
Title Molecular cloning and expression of the catalytic subunit of bovine pyruvate dehydrogenase phosphatase and sequence similarity with protein phosphatase 2C .
Author Lawson,J.E., Niu,X.D., Browning,K.S., Trong,H.L., Yan,J. and Reed,L.J.
Journal Biochemistry 32 (35), 8987-8993 (1993)
Title Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia .
Author Ito,M., Kobashi,H., Naito,E., Saijo,T., Takeda,E., Huq,A.H. and Kuroda,Y.
Journal Clin. Chim. Acta 209 (1-2), 1-7 (1992)
Title Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy .
Author Robinson,B.H. and Sherwood,W.G.
Journal Pediatr. Res. 9 (12), 935-939 (1975)


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