2024-03-29 15:52:25, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001161781 4234 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), transcript variant 4, mRNA. ACCESSION NM_001161781 VERSION NM_001161781.1 GI:239985427 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 4234) AUTHORS 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. TITLE Exercise-induced pyruvate dehydrogenase activation is not affected by 7 days of bed rest JOURNAL J. Appl. Physiol. 111 (3), 751-757 (2011) PUBMED 21680880 REMARK GeneRIF: Although 7 days of bed rest induced whole body glucose intolerance, exercise-induced PDH regulation in skeletal muscle was not changed, suggesting that exercise-induced PDH regulation in skeletal muscle is maintained in glucose-intolerant individuals. REFERENCE 2 (bases 1 to 4234) AUTHORS Kato,J. and Kato,M. TITLE Crystallization and preliminary crystallographic studies of the catalytic subunits of human pyruvate dehydrogenase phosphatase isoforms 1 and 2 JOURNAL Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 66 (PT 3), 342-345 (2010) PUBMED 20208177 REMARK GeneRIF: catalytic subunit of PDP1 crystals belonged to space group P4(1)2(1)2 or P4(3)2(1)2, with unit-cell parameters a = b = 65.1, c = 216.1 A. REFERENCE 3 (bases 1 to 4234) AUTHORS 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. TITLE Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression JOURNAL PLoS ONE 5 (9), E12862 (2010) PUBMED 20877624 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only REFERENCE 4 (bases 1 to 4234) AUTHORS Cameron,J.M., Maj,M., Levandovskiy,V., Barnett,C.P., Blaser,S., Mackay,N., Raiman,J., Feigenbaum,A., Schulze,A. and Robinson,B.H. TITLE Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype JOURNAL Hum. Genet. 125 (3), 319-326 (2009) PUBMED 19184109 REFERENCE 5 (bases 1 to 4234) AUTHORS Stellingwerff,T., Spriet,L.L., Watt,M.J., Kimber,N.E., Hargreaves,M., Hawley,J.A. and Burke,L.M. TITLE Decreased PDH activation and glycogenolysis during exercise following fat adaptation with carbohydrate restoration JOURNAL Am. J. Physiol. Endocrinol. Metab. 290 (2), E380-E388 (2006) PUBMED 16188909 REMARK GeneRIF: Lower accumulation of free ADP and AMP after the FAT-adapt trial may be responsible for the decreased glycogenolysis and PDH activation during sprinting. REFERENCE 6 (bases 1 to 4234) AUTHORS Huang,B., Gudi,R., Wu,P., Harris,R.A., Hamilton,J. and Popov,K.M. TITLE Isoenzymes of pyruvate dehydrogenase phosphatase. DNA-derived amino acid sequences, expression, and regulation JOURNAL J. Biol. Chem. 273 (28), 17680-17688 (1998) PUBMED 9651365 REMARK GeneRIF: Functional characterization of the rat counterpart. REFERENCE 7 (bases 1 to 4234) AUTHORS Korotchkina,L.G. and Patel,M.S. TITLE Mutagenesis studies of the phosphorylation sites of recombinant human pyruvate dehydrogenase. Site-specific regulation JOURNAL J. Biol. Chem. 270 (24), 14297-14304 (1995) PUBMED 7782287 REFERENCE 8 (bases 1 to 4234) AUTHORS Lawson,J.E., Niu,X.D., Browning,K.S., Trong,H.L., Yan,J. and Reed,L.J. TITLE Molecular cloning and expression of the catalytic subunit of bovine pyruvate dehydrogenase phosphatase and sequence similarity with protein phosphatase 2C JOURNAL Biochemistry 32 (35), 8987-8993 (1993) PUBMED 8396421 REMARK GeneRIF: Functional characterization of the bovine counterpart. REFERENCE 9 (bases 1 to 4234) AUTHORS Ito,M., Kobashi,H., Naito,E., Saijo,T., Takeda,E., Huq,A.H. and Kuroda,Y. TITLE Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia JOURNAL Clin. Chim. Acta 209 (1-2), 1-7 (1992) PUBMED 1327585 REMARK GeneRIF: In cultured skin fibroblasts from three patients with congenital lactic acidemia due to a defect in activation of the pyruvate dehydrogenase complex, the PDP-activity was significantly reduced to 50.7%, 64.6% and 63.1% of that of control fibroblasts. REFERENCE 10 (bases 1 to 4234) AUTHORS Robinson,B.H. and Sherwood,W.G. TITLE Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy JOURNAL Pediatr. Res. 9 (12), 935-939 (1975) PUBMED 172850 REMARK GeneRIF: In postmortem tissue samples, from male child with metabolic acidosis, PDK normally reduced PDH-activity in ATP-presence. Addition of Ca++ and Mg++ did not restored PDH-activity. The defect was attributed to a markedly reduced PDP-activity. COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA240240.1, AK126862.1 and BX099681.1. 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 (4) lacks an internal exon, 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA240240.1, DA320210.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025088 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-102 DA240240.1 1-102 103-163 DA240240.1 104-164 164-596 DA240240.1 166-598 597-4219 AK126862.1 1031-4653 4220-4234 BX099681.1 512-526 FEATURES Location/Qualifiers source 1..4234 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8q22.1" gene 1..4234 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /note="pyruvate dehyrogenase phosphatase catalytic subunit 1" /db_xref="GeneID:54704" /db_xref="HGNC:9279" /db_xref="MIM:605993" exon 1..168 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /inference="alignment:Splign:1.39.8" variation 7 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="c" /db_xref="dbSNP:372548037" variation 124 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:186315844" exon 169..4221 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /inference="alignment:Splign:1.39.8" variation 171 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:368896704" variation 186 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:76597597" variation 200 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:373914341" CDS 213..1826 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /EC_number="3.1.3.43" /note="isoform 3 is encoded by transcript variant 4; pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase; [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial; protein phosphatase 2C, magnesium-dependent, catalytic subunit; PDP 1; PDPC 1; pyruvate dehydrogenase phosphatase catalytic subunit 1" /codon_start=1 /product="pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3" /protein_id="NP_001155253.1" /db_xref="GI:239985428" /db_xref="CCDS:CCDS6259.1" /db_xref="GeneID:54704" /db_xref="HGNC:9279" /db_xref="MIM:605993" /translation="
MPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKENWWQYTQGRRYASTPQKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPANAPIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLEIENAVESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAFKRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQEEDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKWSIDLQKRVIESGPDQLNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGLWETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFEDQNAATHLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE
" misc_feature 537..1532 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /note="Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence...; Region: PP2Cc; cd00143" /db_xref="CDD:29062" misc_feature order(570..572,582..587,642..650,1464..1466) /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /note="active site" /db_xref="CDD:29062" misc_feature 816..818 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /experiment="experimental evidence, no additional details recorded" /note="N6-acetyllysine; propagated from UniProtKB/Swiss-Prot (Q9P0J1.3); acetylation site" variation 226 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:376864107" variation 237 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:371323550" variation 303 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:201452113" variation 340 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:201081450" variation 366 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:140713866" variation 407 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:375147234" variation 414 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:374758737" variation 451 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:79439881" variation 473 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:144544236" variation 489 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="g" /replace="t" /db_xref="dbSNP:267606938" variation 496 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:368756677" variation 579 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:144604949" variation 589 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:147845975" variation 617 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:376531662" variation 618 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="c" /db_xref="dbSNP:201131767" variation 630 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:141399719" variation 633 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:151019488" variation 635 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:368265235" variation 722 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="t" /db_xref="dbSNP:200661557" variation 758 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:202034256" variation 853 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:200145429" variation 869 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:374859758" variation 881 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:138512618" variation 883 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:140780685" variation 890 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:199977411" variation 893 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:369055053" variation 901 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="g" /replace="t" /db_xref="dbSNP:201467137" variation 929 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:150112501" variation 965 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:138553326" variation 992 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:140224111" variation 994 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:145915456" variation 1067 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:201021364" variation 1104 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:373016029" variation 1118 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:138488258" variation 1121 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:146222349" variation 1125 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:149633208" variation 1179 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:370143029" variation 1191 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:373354872" variation 1205 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:200054483" variation 1233 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:144339806" variation 1425 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:377342640" variation 1440 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="g" /replace="t" /db_xref="dbSNP:369447724" variation 1445 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:374326474" variation 1454 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:148348306" variation 1486 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:200222464" variation 1493 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:141493326" variation 1575 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:373946288" variation 1614 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:377553463" variation 1629 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:201132164" variation 1643 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:147477305" variation 1646 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:117294206" variation 1658 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:137975172" variation 1659 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:370390664" variation 1667 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:374262682" variation 1708 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:376060350" variation 1732 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:145358369" variation 1746 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:202225648" variation 1770 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:202145000" variation 1782 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:147237491" variation 1826 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:139199750" variation 1851 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:41272415" variation 1862 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:4735258" variation 1875 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="c" /db_xref="dbSNP:192535454" variation 1877 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="g" /replace="t" /db_xref="dbSNP:149521176" variation 1891 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:144036151" variation 1897 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:148691545" variation 1919 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:144473673" variation 2199 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:185126352" STS 2253..2504 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /standard_name="D8S1599" /db_xref="UniSTS:1082" variation 2317 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="g" /replace="t" /db_xref="dbSNP:41272417" variation 2335 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="g" /replace="t" /db_xref="dbSNP:199846257" STS 2376..2491 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /standard_name="SHGC-24323" /db_xref="UniSTS:92277" variation 2392 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:78884124" variation 2436 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:190420045" variation 2455 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:192629673" variation 2457 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:911" variation 2465 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:147461233" variation 2481 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:185015320" variation 2492 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="" /replace="g" /db_xref="dbSNP:139623857" variation 2633 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="c" /db_xref="dbSNP:188727327" variation 2736 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="t" /db_xref="dbSNP:7461396" variation 2756 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:180752222" variation 2783 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:75265995" variation 2828..2829 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="" /replace="g" /db_xref="dbSNP:35866235" variation 2833 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:185360919" variation 3029..3030 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="" /replace="g" /db_xref="dbSNP:35793146" variation 3245 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="c" /db_xref="dbSNP:201779185" variation 3313 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="t" /db_xref="dbSNP:189435075" variation 3390 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="c" /db_xref="dbSNP:111728711" variation 3435 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="g" /db_xref="dbSNP:186669527" variation 3474 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="" /replace="g" /db_xref="dbSNP:145384326" variation 3475 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="g" /replace="t" /db_xref="dbSNP:377214447" variation 3476 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="g" /replace="t" /db_xref="dbSNP:192025344" variation 3484 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="" /replace="t" /db_xref="dbSNP:60316663" variation 3562 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="g" /db_xref="dbSNP:116788695" variation 3633 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="t" /db_xref="dbSNP:77734416" variation 3748 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="t" /db_xref="dbSNP:139839619" variation 3901 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="" /replace="a" /db_xref="dbSNP:368109978" variation 3921 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:115434133" STS 4073..4194 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /standard_name="STS-N47861" /db_xref="UniSTS:64541" variation 4081 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:183503324" variation 4083 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="t" /db_xref="dbSNP:367694582" variation 4089 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="c" /replace="t" /db_xref="dbSNP:145337691" variation 4126..4127 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="" /replace="a" /db_xref="dbSNP:371346130" variation 4162 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="a" /replace="t" /db_xref="dbSNP:186410170" variation 4179 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" /replace="g" /replace="t" /db_xref="dbSNP:190113849" polyA_signal 4195..4200 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" polyA_site 4221 /gene="PDP1" /gene_synonym="PDH; PDP; PDPC; PPM2C" ORIGIN
aagaatcgtttggtctcctgccgtgcccggttcgtattccctactccctgccacgagccgccccgtccgggatcctccacccgtccaaagttgtgagggggcgccgggcgtgctcgcggatcggcggccgcgggcgtgcggagggctggacgagccctggagcgccaggaatcccagtcagaagttccagcctgccactgttctctgatgccatgccagcaccaactcaactgttttttcctctcatccgtaactgtgaactgagcaggatctatggcactgcatgttactgccaccacaaacatctctgttgttcctcatcgtacattcctcagagtcgactgagatacacacctcatccagcatatgctaccttttgcaggccaaaggagaactggtggcagtacacccaaggaaggagatatgcttccacaccacagaaattttacctcacacctccacaagtcaatagcatccttaaagctaatgaatacagtttcaaagtgccagaatttgacggcaaaaatgtcagttctatccttggatttgacagcaatcagctgcctgcaaatgcacccattgaggaccggagaagtgcagcaacctgcttgcagaccagagggatgcttttgggggtttttgatggccatgcaggttgtgcttgttcccaggcagtcagtgaaagactcttttattatattgctgtctctttgttaccccatgagactttgctagagattgaaaatgcagtggagagcggccgggcactgctacccattctccagtggcacaagcaccccaatgattactttagtaaggaggcatccaaattgtactttaacagcttgaggacttactggcaagagcttatagacctcaacactggtgagtcgactgatattgatgttaaggaggctctaattaatgccttcaagaggcttgataatgacatctccttggaggcgcaagttggtgatcctaattcttttctcaactacctggtgcttcgagtggcattttctggagccactgcttgtgtggcccatgtggatggtgttgaccttcatgtggccaatactggcgatagcagagccatgctgggtgtgcaggaagaggacggctcatggtcagcagtcacgctgtctaatgaccacaatgctcaaaatgaaagagaactagaacggctgaaattggaacatccaaagagtgaggccaagagtgtcgtgaaacaggatcggctgcttggcttgctgatgccatttagggcatttggagatgtaaagttcaaatggagcattgaccttcaaaagagagtgatagaatctggcccagaccagttgaatgacaatgaatataccaagtttattcctcctaattatcacacacctccttatctcactgctgagccagaggtaacttaccaccgattaaggccacaggataagtttctggtgttggctactgatgggttgtgggagactatgcataggcaggatgtggttaggattgtgggtgagtacctaactggcatgcatcaccaacagccaatagctgttggtggctacaaggtgactctgggacagatgcatggccttttaacagaaaggagaaccaaaatgtcctcggtatttgaggatcagaacgcagcaacccatctcattcgccacgctgtgggcaacaacgagtttgggactgttgatcatgagcgcctctctaaaatgcttagtcttcctgaagagcttgctcgaatgtacagagatgacattacaatcattgtagttcagttcaattctcatgttgtaggggcgtatcaaaaccaagaatagtgagtggctctttcactggcaattctcaaatgatatacatttaaagggcagattttttaaaaagatactactataataaacatttccagttggtcattctaagcatttacccttttgatactctagctagtcaggtactccaaattgactttgcagcagggtggcagggtcaggagagtctggtcctgcctagctcagatttcatggcacctgcacttgaagcaagtcacttctttatcacaggtgtcttgaaacattagcttcttttaccaacctgagaaaattaggatgacctggcaaataagatcttgaataggccaaaagcaagtatcttgctgtgtgtagtctcttggttaaagtgaagaaacagtactgttcacacctttcttcactgagattccagtgtacatgagaacatatatttattgcatgattttctagatacacagtctatgcattattcatatacatttattttagcctaaagtggttttcaaatccagttcttcaagccataaatgaccaagatccaagcaatctgaatttgtttttgtgattatttgactggaatgcttcttaagtggaataactatactccgttatccacccgatttcctaatgtaattgaaagattttctattttgccacacacttggagacaataagggtttttagttttatctactcttctattgaagttaaagaaagaaaaaaagatttttttatttgtattaatgaaaagctttagtttaaaataaggagatccagaataaaaagaagagactgatctcttcaattattgtcatctgtagccaccagcacatcactcttatgtaatccccaaaggcttggcatgccgtaagtgtgtggtgggtagactgctgccggggaatcgtacttcttatttagtaatgataagacttttcattatttttggaattttaaagatgacataaataagtttaaatatcaatttggggagtaaggtttaatattgccatcgggtattgagacaggaggaagtttctgtttttctccatttagacataggtcaattaaaatatttgggtttaaaatgactaaatgctttaaacatattgtagcttaagatatatgtgttaagatatatacatgagaaactttaaaaggtaactactgtgcatgcctgatgcttaatagaatacttagtggcatcaaatgtttgcagcagtctccataattatattcagtcccttctaatactgtatcaatgtaaatgaaataaatatattcaaattggctttttgatatgcatcaagtggcattttgttcctgtgtttaatagtgatctgtatacagctgtgcacatattgtcatcacttattctagcatcactgttaaggctgtgattatgtttgatattcacctggattttaatacaagccaatatcagcttcccattgtgtaataacttgggtgtttaggagtcttttcacattttttggggatatgaactagatgttcaagaactccttctggactgtggatactgaatcagtgtactattggctgcagaatttgtttcaattgaaaatagactcaggaagattgctgctcagaatatcatataatgtttattttttgaggtgtttttgtttttatttgtgtgtttttttttttttaagtcagcttggaacttttttcctgggtagtatttgggagagggaaaggctgtactatatatttatttctaaatgttttgactgggcatttttcttttaatgaaatatgtggactgctctagcaaaccctattttcagctactatttgaatattcttgaacaccaccactgaagagtttcatatacaccaaataatgtctcatctctatagtacagggaatataaaattggtttcctgtggtcatgatcaagatagtagtattattacacaagaaacttggtctgcagtctggaagcttgtctgctctatagaaatgaaaatgcagcatgaagttgacattgtggaaatgaaagtaattgggtattagaaatctgaaagtactgtcatctaaaagcaattgtgattttattgtaattggttgtcactgttgtacggtgtctagaattaaagaatacatgtaaactttcatggtatttagcctttcttaaatttttttaaaatttaaactttctaacctatgtattcaacttctgtatttatatttaatcagtggttcatgttatataatacacccttaactagttaaatggaatgttggtatggtacagagtaccatattgctaagaaaactgtcttataaaagatgtatatgtgtgaagacatgaaagtttaatgtacagaatggttggagaaatgcctatggtgaattaaagcttcatatctgctttctgaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:54704 -> Molecular function: GO:0004722 [protein serine/threonine phosphatase activity] evidence: IDA GeneID:54704 -> Molecular function: GO:0004741 [[pyruvate dehydrogenase (lipoamide)] phosphatase activity] evidence: IEA GeneID:54704 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA GeneID:54704 -> Biological process: GO:0006090 [pyruvate metabolic process] evidence: TAS GeneID:54704 -> Biological process: GO:0010510 [regulation of acetyl-CoA biosynthetic process from pyruvate] evidence: TAS GeneID:54704 -> Biological process: GO:0035970 [peptidyl-threonine dephosphorylation] evidence: IDA GeneID:54704 -> Biological process: GO:0044237 [cellular metabolic process] evidence: TAS GeneID:54704 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:54704 -> Cellular component: GO:0005759 [mitochondrial matrix] evidence: TAS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001155253 -> EC 3.1.3.43
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