GGRNA Home | Help | Advanced search

2019-03-25 14:52:02, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_018444               4291 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1
            (PDP1), transcript variant 5, mRNA.
ACCESSION   NM_018444
VERSION     NM_018444.3  GI:239985429
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 4291)
  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 4291)
  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 4291)
  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 4291)
  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 4291)
  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 4291)
  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 4291)
  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 4291)
  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 4291)
  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 4291)
  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 DB084539.1, BC047619.1,
            AK126862.1 and BX099681.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 17, 2009 this sequence version replaced gi:45439338.
            
            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.
            
            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 :: BI460642.1, AK057079.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-564               DB084539.1         1-564
            565-2420            BC047619.1         486-2341
            2421-4276           AK126862.1         2798-4653
            4277-4291           BX099681.1         512-526
FEATURES             Location/Qualifiers
     source          1..4291
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     gene            1..4291
                     /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="HPRD:16185"
                     /db_xref="MIM:605993"
     exon            1..225
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    84..86
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /note="upstream in-frame stop codon"
     variation       134
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202016823"
     variation       203
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:372548037"
     exon            226..4278
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /inference="alignment:Splign:1.39.8"
     variation       228
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368896704"
     variation       243
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76597597"
     variation       257
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:373914341"
     CDS             270..1883
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /EC_number="3.1.3.43"
                     /note="isoform 3 is encoded by transcript variant 5;
                     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_060914.2"
                     /db_xref="GI:45439339"
                     /db_xref="CCDS:CCDS6259.1"
                     /db_xref="GeneID:54704"
                     /db_xref="HGNC:9279"
                     /db_xref="HPRD:16185"
                     /db_xref="MIM:605993"
                     /translation="
MPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKENWWQYTQGRRYASTPQKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPANAPIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLEIENAVESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAFKRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQEEDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKWSIDLQKRVIESGPDQLNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGLWETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFEDQNAATHLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE
"
     misc_feature    594..1589
                     /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(627..629,639..644,699..707,1521..1523)
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /note="active site"
                     /db_xref="CDD:29062"
     misc_feature    873..875
                     /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       283
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:376864107"
     variation       294
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371323550"
     variation       360
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201452113"
     variation       397
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201081450"
     variation       423
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140713866"
     variation       464
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375147234"
     variation       471
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374758737"
     variation       508
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79439881"
     variation       530
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144544236"
     variation       546
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:267606938"
     variation       553
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368756677"
     variation       636
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:144604949"
     variation       646
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147845975"
     variation       674
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376531662"
     variation       675
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201131767"
     variation       687
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141399719"
     variation       690
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151019488"
     variation       692
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368265235"
     variation       779
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:200661557"
     variation       815
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202034256"
     variation       910
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200145429"
     variation       926
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374859758"
     variation       938
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138512618"
     variation       940
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140780685"
     variation       947
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:199977411"
     variation       950
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369055053"
     variation       958
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201467137"
     variation       986
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:150112501"
     variation       1022
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138553326"
     variation       1049
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140224111"
     variation       1051
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145915456"
     variation       1124
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201021364"
     variation       1161
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373016029"
     variation       1175
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138488258"
     variation       1178
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146222349"
     variation       1182
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149633208"
     variation       1236
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370143029"
     variation       1248
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373354872"
     variation       1262
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200054483"
     variation       1290
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:144339806"
     variation       1482
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377342640"
     variation       1497
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:369447724"
     variation       1502
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374326474"
     variation       1511
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148348306"
     variation       1543
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200222464"
     variation       1550
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:141493326"
     variation       1632
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:373946288"
     variation       1671
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377553463"
     variation       1686
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201132164"
     variation       1700
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147477305"
     variation       1703
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:117294206"
     variation       1715
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137975172"
     variation       1716
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370390664"
     variation       1724
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374262682"
     variation       1765
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376060350"
     variation       1789
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:145358369"
     variation       1803
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202225648"
     variation       1827
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202145000"
     variation       1839
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:147237491"
     variation       1883
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:139199750"
     variation       1908
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:41272415"
     variation       1919
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:4735258"
     variation       1932
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:192535454"
     variation       1934
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:149521176"
     variation       1948
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144036151"
     variation       1954
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148691545"
     variation       1976
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144473673"
     variation       2256
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185126352"
     STS             2310..2561
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /standard_name="D8S1599"
                     /db_xref="UniSTS:1082"
     variation       2374
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:41272417"
     variation       2392
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:199846257"
     STS             2433..2548
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /standard_name="SHGC-24323"
                     /db_xref="UniSTS:92277"
     variation       2449
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:78884124"
     variation       2493
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190420045"
     variation       2512
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192629673"
     variation       2514
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:911"
     variation       2522
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147461233"
     variation       2538
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185015320"
     variation       2549
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:139623857"
     variation       2690
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:188727327"
     variation       2793
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:7461396"
     variation       2813
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:180752222"
     variation       2840
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:75265995"
     variation       2885..2886
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:35866235"
     variation       2890
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185360919"
     variation       3086..3087
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:35793146"
     variation       3302
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201779185"
     variation       3370
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:189435075"
     variation       3447
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:111728711"
     variation       3492
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186669527"
     variation       3531
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:145384326"
     variation       3532
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377214447"
     variation       3533
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:192025344"
     variation       3541
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:60316663"
     variation       3619
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:116788695"
     variation       3690
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:77734416"
     variation       3805
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:139839619"
     variation       3958
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:368109978"
     variation       3978
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:115434133"
     STS             4130..4251
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /standard_name="STS-N47861"
                     /db_xref="UniSTS:64541"
     variation       4138
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183503324"
     variation       4140
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:367694582"
     variation       4146
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145337691"
     variation       4183..4184
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:371346130"
     variation       4219
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:186410170"
     variation       4236
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:190113849"
     polyA_signal    4252..4257
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
     polyA_site      4278
                     /gene="PDP1"
                     /gene_synonym="PDH; PDP; PDPC; PPM2C"
ORIGIN      
actcgtcactgcgcagccaatcggcaggcgggaagcactccggcccgaacgtgcgggcggggcagggtggcggccccgcacggtaggggagcagagtgggcaggccgggggtgagggctcgcgctccgggagctgcacggggctgcgtggaaagagcgccgagcggtggcgtcgttgtcgccccctcctcgtcgggaagaatcgtttggtctcctgccgtgcccggaatcccagtcagaagttccagcctgccactgttctctgatgccatgccagcaccaactcaactgttttttcctctcatccgtaactgtgaactgagcaggatctatggcactgcatgttactgccaccacaaacatctctgttgttcctcatcgtacattcctcagagtcgactgagatacacacctcatccagcatatgctaccttttgcaggccaaaggagaactggtggcagtacacccaaggaaggagatatgcttccacaccacagaaattttacctcacacctccacaagtcaatagcatccttaaagctaatgaatacagtttcaaagtgccagaatttgacggcaaaaatgtcagttctatccttggatttgacagcaatcagctgcctgcaaatgcacccattgaggaccggagaagtgcagcaacctgcttgcagaccagagggatgcttttgggggtttttgatggccatgcaggttgtgcttgttcccaggcagtcagtgaaagactcttttattatattgctgtctctttgttaccccatgagactttgctagagattgaaaatgcagtggagagcggccgggcactgctacccattctccagtggcacaagcaccccaatgattactttagtaaggaggcatccaaattgtactttaacagcttgaggacttactggcaagagcttatagacctcaacactggtgagtcgactgatattgatgttaaggaggctctaattaatgccttcaagaggcttgataatgacatctccttggaggcgcaagttggtgatcctaattcttttctcaactacctggtgcttcgagtggcattttctggagccactgcttgtgtggcccatgtggatggtgttgaccttcatgtggccaatactggcgatagcagagccatgctgggtgtgcaggaagaggacggctcatggtcagcagtcacgctgtctaatgaccacaatgctcaaaatgaaagagaactagaacggctgaaattggaacatccaaagagtgaggccaagagtgtcgtgaaacaggatcggctgcttggcttgctgatgccatttagggcatttggagatgtaaagttcaaatggagcattgaccttcaaaagagagtgatagaatctggcccagaccagttgaatgacaatgaatataccaagtttattcctcctaattatcacacacctccttatctcactgctgagccagaggtaacttaccaccgattaaggccacaggataagtttctggtgttggctactgatgggttgtgggagactatgcataggcaggatgtggttaggattgtgggtgagtacctaactggcatgcatcaccaacagccaatagctgttggtggctacaaggtgactctgggacagatgcatggccttttaacagaaaggagaaccaaaatgtcctcggtatttgaggatcagaacgcagcaacccatctcattcgccacgctgtgggcaacaacgagtttgggactgttgatcatgagcgcctctctaaaatgcttagtcttcctgaagagcttgctcgaatgtacagagatgacattacaatcattgtagttcagttcaattctcatgttgtaggggcgtatcaaaaccaagaatagtgagtggctctttcactggcaattctcaaatgatatacatttaaagggcagattttttaaaaagatactactataataaacatttccagttggtcattctaagcatttacccttttgatactctagctagtcaggtactccaaattgactttgcagcagggtggcagggtcaggagagtctggtcctgcctagctcagatttcatggcacctgcacttgaagcaagtcacttctttatcacaggtgtcttgaaacattagcttcttttaccaacctgagaaaattaggatgacctggcaaataagatcttgaataggccaaaagcaagtatcttgctgtgtgtagtctcttggttaaagtgaagaaacagtactgttcacacctttcttcactgagattccagtgtacatgagaacatatatttattgcatgattttctagatacacagtctatgcattattcatatacatttattttagcctaaagtggttttcaaatccagttcttcaagccataaatgaccaagatccaagcaatctgaatttgtttttgtgattatttgactggaatgcttcttaagtggaataactatactccgttatccacccgatttcctaatgtaattgaaagattttctattttgccacacacttggagacaataagggtttttagttttatctactcttctattgaagttaaagaaagaaaaaaagatttttttatttgtattaatgaaaagctttagtttaaaataaggagatccagaataaaaagaagagactgatctcttcaattattgtcatctgtagccaccagcacatcactcttatgtaatccccaaaggcttggcatgccgtaagtgtgtggtgggtagactgctgccggggaatcgtacttcttatttagtaatgataagacttttcattatttttggaattttaaagatgacataaataagtttaaatatcaatttggggagtaaggtttaatattgccatcgggtattgagacaggaggaagtttctgtttttctccatttagacataggtcaattaaaatatttgggtttaaaatgactaaatgctttaaacatattgtagcttaagatatatgtgttaagatatatacatgagaaactttaaaaggtaactactgtgcatgcctgatgcttaatagaatacttagtggcatcaaatgtttgcagcagtctccataattatattcagtcccttctaatactgtatcaatgtaaatgaaataaatatattcaaattggctttttgatatgcatcaagtggcattttgttcctgtgtttaatagtgatctgtatacagctgtgcacatattgtcatcacttattctagcatcactgttaaggctgtgattatgtttgatattcacctggattttaatacaagccaatatcagcttcccattgtgtaataacttgggtgtttaggagtcttttcacattttttggggatatgaactagatgttcaagaactccttctggactgtggatactgaatcagtgtactattggctgcagaatttgtttcaattgaaaatagactcaggaagattgctgctcagaatatcatataatgtttattttttgaggtgtttttgtttttatttgtgtgtttttttttttttaagtcagcttggaacttttttcctgggtagtatttgggagagggaaaggctgtactatatatttatttctaaatgttttgactgggcatttttcttttaatgaaatatgtggactgctctagcaaaccctattttcagctactatttgaatattcttgaacaccaccactgaagagtttcatatacaccaaataatgtctcatctctatagtacagggaatataaaattggtttcctgtggtcatgatcaagatagtagtattattacacaagaaacttggtctgcagtctggaagcttgtctgctctatagaaatgaaaatgcagcatgaagttgacattgtggaaatgaaagtaattgggtattagaaatctgaaagtactgtcatctaaaagcaattgtgattttattgtaattggttgtcactgttgtacggtgtctagaattaaagaatacatgtaaactttcatggtatttagcctttcttaaatttttttaaaatttaaactttctaacctatgtattcaacttctgtatttatatttaatcagtggttcatgttatataatacacccttaactagttaaatggaatgttggtatggtacagagtaccatattgctaagaaaactgtcttataaaagatgtatatgtgtgaagacatgaaagtttaatgtacagaatggttggagaaatgcctatggtgaattaaagcttcatatctgctttctgaaaaaaaaaaaaaaa
//

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_060914 -> EC 3.1.3.43

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.