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2025-05-09 16:32:21, 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 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
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