Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.
| RefSeq Version | NM_018444.3, 239985429 |
| Length | 4291 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| 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 dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform 3 precursor |
| 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]. Transcript Variant: This variant (5) has an alternate 5' exon and the translation initiation starts at a downstream AUG codon, as compared to variant 1. The resulting isoform (3) has a shorter N-terminus, as compared to isoform 1. |
| RefSeq | NP_060914.2 |
| CDS | 270..1883 | Exon (1) | 1..225 | Exon (2) | 1..225 | Exon (3) | 226..4278 |
| Translation | MPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKE
NWWQYTQGRRYASTPQKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPAN
APIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLEIENAV
ESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAF
KRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQE
EDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKW
SIDLQKRVIESGPDQLNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGL
WETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFEDQNAAT
HLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE
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| Position | Chain | Variation | Link |
| 243 | + | c, t | dbSNP:76597597 |
| 508 | + | c, t | dbSNP:79439881 |
| 1703 | + | a, g | dbSNP:117294206 |
| 1908 | + | c, g | dbSNP:41272415 |
| 1919 | + | c, t | dbSNP:4735258 |
| 2374 | + | g, t | dbSNP:41272417 |
| 2392 | + | a, c | dbSNP:76051159 |
| 2449 | + | c, t | dbSNP:78884124 |
| complement(2514) | - | g, c | dbSNP:911 |
| 2793 | + | a, t | dbSNP:7461396 |
| 2820 | + | g, t | dbSNP:77299973 |
| 2840 | + | a, g | dbSNP:75265995 |
| 2885..2886 | + | , g | dbSNP:35866235 |
| 3086..3087 | + | , g | dbSNP:35793146 |
| 3302 | + | a, c | dbSNP:76015640 |
| 3430 | + | g, t | dbSNP:77082724 |
| 3447 | + | a, c | dbSNP:111728711 |
| 3531 | + | g, t | dbSNP:115341613 |
| 3541 | + | , t | dbSNP:71833093 |
| 3544 | + | , t | dbSNP:60316663 |
| 3619 | + | c, g | dbSNP:116788695 |
| 3690 | + | a, t | dbSNP:77734416 |
| 3978 | + | c, t | dbSNP:115434133 |
| Gene Symbol | PDP1 |
| Gene Synonym | FLJ32517; FLJ56179; MGC119646; PDH; PDP; PDPC; PPM2C |
| Chromosome | 8 |
| Locus Map | 8q22.1 |
| All Transcripts | NM_018444 , NM_001161778 , NM_001161781 , NM_001161779 , NM_001161780 |
| 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 | Down-regulation of pyruvate dehydrogenase phosphatase in obese subjects is a defect that signals insulin resistance . |
| Author | Piccinini,M., Mostert,M., Alberto,G., Ramondetti,C., Novi,R.F., Dalmasso,P. and Rinaudo,M.T. |
| Journal | Obes. Res. 13 (4), 678-686 (2005) |
| 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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