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2024-04-20 23:08:26, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001161779 4373 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1
(PDP1), transcript variant 2, mRNA.
ACCESSION NM_001161779
VERSION NM_001161779.1 GI:239985421
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 4373)
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 4373)
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 4373)
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 4373)
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 4373)
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 4373)
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 4373)
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 4373)
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 4373)
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 4373)
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 DA769567.1, BC098343.1,
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 (2) is the longest transcript.
This variant and variant 3 encode the same 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 :: DA769567.1, DA233418.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025091 [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
1-581 DA769567.1 1-581
582-2000 BC098343.1 254-1672
2001-4358 AK126862.1 2296-4653
4359-4373 BX099681.1 512-526
FEATURES Location/Qualifiers
source 1..4373
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8q22.1"
gene 1..4373
/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..272
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/inference="alignment:Splign:1.39.8"
variation 42
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:202016823"
variation 111
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:372548037"
variation 228
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:186315844"
exon 273..307
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/inference="alignment:Splign:1.39.8"
CDS 277..1965
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/EC_number="3.1.3.43"
/note="isoform 2 is encoded by transcript variant 2;
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 2"
/protein_id="NP_001155251.1"
/db_xref="GI:239985422"
/db_xref="CCDS:CCDS55262.1"
/db_xref="GeneID:54704"
/db_xref="HGNC:9279"
/db_xref="MIM:605993"
/translation="
MCVCPGPRRIGIPVRSSSLPLFSDAMPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKENWWQYTQGRRYASTPQKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPANAPIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLEIENAVESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAFKRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQEEDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKWSIDLQKRVIESGPDQLNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGLWETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFEDQNAATHLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE
"
misc_feature 676..1671
/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(709..711,721..726,781..789,1603..1605)
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/note="active site"
/db_xref="CDD:29062"
exon 308..4360
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/inference="alignment:Splign:1.39.8"
variation 310
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:368896704"
variation 325
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:76597597"
variation 339
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:373914341"
variation 365
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:376864107"
variation 376
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:371323550"
variation 442
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:201452113"
variation 479
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:201081450"
variation 505
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:140713866"
variation 546
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:375147234"
variation 553
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:374758737"
variation 590
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:79439881"
variation 612
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:144544236"
variation 628
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:267606938"
variation 635
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:368756677"
variation 718
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:144604949"
variation 728
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:147845975"
variation 756
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:376531662"
variation 757
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:201131767"
variation 769
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:141399719"
variation 772
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:151019488"
variation 774
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:368265235"
variation 861
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:200661557"
variation 897
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:202034256"
variation 992
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:200145429"
variation 1008
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:374859758"
variation 1020
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:138512618"
variation 1022
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:140780685"
variation 1029
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:199977411"
variation 1032
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:369055053"
variation 1040
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:201467137"
variation 1068
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:150112501"
variation 1104
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:138553326"
variation 1131
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:140224111"
variation 1133
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:145915456"
variation 1206
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:201021364"
variation 1243
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:373016029"
variation 1257
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:138488258"
variation 1260
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:146222349"
variation 1264
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:149633208"
variation 1318
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:370143029"
variation 1330
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:373354872"
variation 1344
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:200054483"
variation 1372
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:144339806"
variation 1564
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:377342640"
variation 1579
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:369447724"
variation 1584
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:374326474"
variation 1593
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:148348306"
variation 1625
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:200222464"
variation 1632
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:141493326"
variation 1714
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:373946288"
variation 1753
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:377553463"
variation 1768
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:201132164"
variation 1782
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:147477305"
variation 1785
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:117294206"
variation 1797
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:137975172"
variation 1798
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:370390664"
variation 1806
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:374262682"
variation 1847
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:376060350"
variation 1871
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:145358369"
variation 1885
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:202225648"
variation 1909
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:202145000"
variation 1921
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:147237491"
variation 1965
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:139199750"
variation 1990
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:41272415"
variation 2001
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:4735258"
variation 2014
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:192535454"
variation 2016
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:149521176"
variation 2030
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:144036151"
variation 2036
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:148691545"
variation 2058
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:144473673"
variation 2338
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:185126352"
STS 2392..2643
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/standard_name="D8S1599"
/db_xref="UniSTS:1082"
variation 2456
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:41272417"
variation 2474
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:199846257"
STS 2515..2630
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/standard_name="SHGC-24323"
/db_xref="UniSTS:92277"
variation 2531
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:78884124"
variation 2575
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:190420045"
variation 2594
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:192629673"
variation 2596
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:911"
variation 2604
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:147461233"
variation 2620
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:185015320"
variation 2631
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:139623857"
variation 2772
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:188727327"
variation 2875
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:7461396"
variation 2895
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:180752222"
variation 2922
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:75265995"
variation 2967..2968
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:35866235"
variation 2972
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:185360919"
variation 3168..3169
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:35793146"
variation 3384
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:201779185"
variation 3452
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:189435075"
variation 3529
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:111728711"
variation 3574
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:186669527"
variation 3613
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:145384326"
variation 3614
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:377214447"
variation 3615
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:192025344"
variation 3623
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="t"
/db_xref="dbSNP:60316663"
variation 3701
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:116788695"
variation 3772
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:77734416"
variation 3887
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:139839619"
variation 4040
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="a"
/db_xref="dbSNP:368109978"
variation 4060
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:115434133"
STS 4212..4333
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/standard_name="STS-N47861"
/db_xref="UniSTS:64541"
variation 4220
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:183503324"
variation 4222
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:367694582"
variation 4228
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:145337691"
variation 4265..4266
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="a"
/db_xref="dbSNP:371346130"
variation 4301
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:186410170"
variation 4318
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:190113849"
polyA_signal 4334..4339
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
polyA_site 4360
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
ORIGIN
agagtgggcaggccgggggtgagggctcgcgctccgggagctgcacggggctgcgtggaaagagcgccgagcggtggcgtcgttgtcgccccctcctcgtcgggaagaatcgtttggtctcctgccgtgcccggttcgtattccctactccctgccacgagccgccccgtccgggatcctccacccgtccaaagttgtgagggggcgccgggcgtgctcgcggatcggcggccgcgggcgtgcggagggctggacgagccctggagcgccaggagaatgtgtgtgtgtcccgggcccagacgaattggaatcccagtcagaagttccagcctgccactgttctctgatgccatgccagcaccaactcaactgttttttcctctcatccgtaactgtgaactgagcaggatctatggcactgcatgttactgccaccacaaacatctctgttgttcctcatcgtacattcctcagagtcgactgagatacacacctcatccagcatatgctaccttttgcaggccaaaggagaactggtggcagtacacccaaggaaggagatatgcttccacaccacagaaattttacctcacacctccacaagtcaatagcatccttaaagctaatgaatacagtttcaaagtgccagaatttgacggcaaaaatgtcagttctatccttggatttgacagcaatcagctgcctgcaaatgcacccattgaggaccggagaagtgcagcaacctgcttgcagaccagagggatgcttttgggggtttttgatggccatgcaggttgtgcttgttcccaggcagtcagtgaaagactcttttattatattgctgtctctttgttaccccatgagactttgctagagattgaaaatgcagtggagagcggccgggcactgctacccattctccagtggcacaagcaccccaatgattactttagtaaggaggcatccaaattgtactttaacagcttgaggacttactggcaagagcttatagacctcaacactggtgagtcgactgatattgatgttaaggaggctctaattaatgccttcaagaggcttgataatgacatctccttggaggcgcaagttggtgatcctaattcttttctcaactacctggtgcttcgagtggcattttctggagccactgcttgtgtggcccatgtggatggtgttgaccttcatgtggccaatactggcgatagcagagccatgctgggtgtgcaggaagaggacggctcatggtcagcagtcacgctgtctaatgaccacaatgctcaaaatgaaagagaactagaacggctgaaattggaacatccaaagagtgaggccaagagtgtcgtgaaacaggatcggctgcttggcttgctgatgccatttagggcatttggagatgtaaagttcaaatggagcattgaccttcaaaagagagtgatagaatctggcccagaccagttgaatgacaatgaatataccaagtttattcctcctaattatcacacacctccttatctcactgctgagccagaggtaacttaccaccgattaaggccacaggataagtttctggtgttggctactgatgggttgtgggagactatgcataggcaggatgtggttaggattgtgggtgagtacctaactggcatgcatcaccaacagccaatagctgttggtggctacaaggtgactctgggacagatgcatggccttttaacagaaaggagaaccaaaatgtcctcggtatttgaggatcagaacgcagcaacccatctcattcgccacgctgtgggcaacaacgagtttgggactgttgatcatgagcgcctctctaaaatgcttagtcttcctgaagagcttgctcgaatgtacagagatgacattacaatcattgtagttcagttcaattctcatgttgtaggggcgtatcaaaaccaagaatagtgagtggctctttcactggcaattctcaaatgatatacatttaaagggcagattttttaaaaagatactactataataaacatttccagttggtcattctaagcatttacccttttgatactctagctagtcaggtactccaaattgactttgcagcagggtggcagggtcaggagagtctggtcctgcctagctcagatttcatggcacctgcacttgaagcaagtcacttctttatcacaggtgtcttgaaacattagcttcttttaccaacctgagaaaattaggatgacctggcaaataagatcttgaataggccaaaagcaagtatcttgctgtgtgtagtctcttggttaaagtgaagaaacagtactgttcacacctttcttcactgagattccagtgtacatgagaacatatatttattgcatgattttctagatacacagtctatgcattattcatatacatttattttagcctaaagtggttttcaaatccagttcttcaagccataaatgaccaagatccaagcaatctgaatttgtttttgtgattatttgactggaatgcttcttaagtggaataactatactccgttatccacccgatttcctaatgtaattgaaagattttctattttgccacacacttggagacaataagggtttttagttttatctactcttctattgaagttaaagaaagaaaaaaagatttttttatttgtattaatgaaaagctttagtttaaaataaggagatccagaataaaaagaagagactgatctcttcaattattgtcatctgtagccaccagcacatcactcttatgtaatccccaaaggcttggcatgccgtaagtgtgtggtgggtagactgctgccggggaatcgtacttcttatttagtaatgataagacttttcattatttttggaattttaaagatgacataaataagtttaaatatcaatttggggagtaaggtttaatattgccatcgggtattgagacaggaggaagtttctgtttttctccatttagacataggtcaattaaaatatttgggtttaaaatgactaaatgctttaaacatattgtagcttaagatatatgtgttaagatatatacatgagaaactttaaaaggtaactactgtgcatgcctgatgcttaatagaatacttagtggcatcaaatgtttgcagcagtctccataattatattcagtcccttctaatactgtatcaatgtaaatgaaataaatatattcaaattggctttttgatatgcatcaagtggcattttgttcctgtgtttaatagtgatctgtatacagctgtgcacatattgtcatcacttattctagcatcactgttaaggctgtgattatgtttgatattcacctggattttaatacaagccaatatcagcttcccattgtgtaataacttgggtgtttaggagtcttttcacattttttggggatatgaactagatgttcaagaactccttctggactgtggatactgaatcagtgtactattggctgcagaatttgtttcaattgaaaatagactcaggaagattgctgctcagaatatcatataatgtttattttttgaggtgtttttgtttttatttgtgtgtttttttttttttaagtcagcttggaacttttttcctgggtagtatttgggagagggaaaggctgtactatatatttatttctaaatgttttgactgggcatttttcttttaatgaaatatgtggactgctctagcaaaccctattttcagctactatttgaatattcttgaacaccaccactgaagagtttcatatacaccaaataatgtctcatctctatagtacagggaatataaaattggtttcctgtggtcatgatcaagatagtagtattattacacaagaaacttggtctgcagtctggaagcttgtctgctctatagaaatgaaaatgcagcatgaagttgacattgtggaaatgaaagtaattgggtattagaaatctgaaagtactgtcatctaaaagcaattgtgattttattgtaattggttgtcactgttgtacggtgtctagaattaaagaatacatgtaaactttcatggtatttagcctttcttaaatttttttaaaatttaaactttctaacctatgtattcaacttctgtatttatatttaatcagtggttcatgttatataatacacccttaactagttaaatggaatgttggtatggtacagagtaccatattgctaagaaaactgtcttataaaagatgtatatgtgtgaagacatgaaagtttaatgtacagaatggttggagaaatgcctatggtgaattaaagcttcatatctgctttctgaaaaaaaaaaaaaaa
//
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_001155251 -> EC 3.1.3.43
by
@meso_cacase at
DBCLS
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