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2019-03-25 14:56:26, 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:

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

by @meso_cacase at DBCLS
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