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2025-11-17 12:07:18, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001161781 4234 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1
(PDP1), transcript variant 4, mRNA.
ACCESSION NM_001161781
VERSION NM_001161781.1 GI:239985427
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4234)
AUTHORS Kiilerich,K., Ringholm,S., Bienso,R.S., Fisher,J.P., Iversen,N.,
van Hall,G., Wojtaszewski,J.F., Saltin,B., Lundby,C., Calbet,J.A.
and Pilegaard,H.
TITLE Exercise-induced pyruvate dehydrogenase activation is not affected
by 7 days of bed rest
JOURNAL J. Appl. Physiol. 111 (3), 751-757 (2011)
PUBMED 21680880
REMARK GeneRIF: Although 7 days of bed rest induced whole body glucose
intolerance, exercise-induced PDH regulation in skeletal muscle was
not changed, suggesting that exercise-induced PDH regulation in
skeletal muscle is maintained in glucose-intolerant individuals.
REFERENCE 2 (bases 1 to 4234)
AUTHORS Kato,J. and Kato,M.
TITLE Crystallization and preliminary crystallographic studies of the
catalytic subunits of human pyruvate dehydrogenase phosphatase
isoforms 1 and 2
JOURNAL Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 66 (PT 3),
342-345 (2010)
PUBMED 20208177
REMARK GeneRIF: catalytic subunit of PDP1 crystals belonged to space group
P4(1)2(1)2 or P4(3)2(1)2, with unit-cell parameters a = b = 65.1, c
= 216.1 A.
REFERENCE 3 (bases 1 to 4234)
AUTHORS Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
TITLE Genetic variants in nuclear-encoded mitochondrial genes influence
AIDS progression
JOURNAL PLoS ONE 5 (9), E12862 (2010)
PUBMED 20877624
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 4234)
AUTHORS Cameron,J.M., Maj,M., Levandovskiy,V., Barnett,C.P., Blaser,S.,
Mackay,N., Raiman,J., Feigenbaum,A., Schulze,A. and Robinson,B.H.
TITLE Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces
a lethal infantile phenotype
JOURNAL Hum. Genet. 125 (3), 319-326 (2009)
PUBMED 19184109
REFERENCE 5 (bases 1 to 4234)
AUTHORS Stellingwerff,T., Spriet,L.L., Watt,M.J., Kimber,N.E.,
Hargreaves,M., Hawley,J.A. and Burke,L.M.
TITLE Decreased PDH activation and glycogenolysis during exercise
following fat adaptation with carbohydrate restoration
JOURNAL Am. J. Physiol. Endocrinol. Metab. 290 (2), E380-E388 (2006)
PUBMED 16188909
REMARK GeneRIF: Lower accumulation of free ADP and AMP after the FAT-adapt
trial may be responsible for the decreased glycogenolysis and PDH
activation during sprinting.
REFERENCE 6 (bases 1 to 4234)
AUTHORS Huang,B., Gudi,R., Wu,P., Harris,R.A., Hamilton,J. and Popov,K.M.
TITLE Isoenzymes of pyruvate dehydrogenase phosphatase. DNA-derived amino
acid sequences, expression, and regulation
JOURNAL J. Biol. Chem. 273 (28), 17680-17688 (1998)
PUBMED 9651365
REMARK GeneRIF: Functional characterization of the rat counterpart.
REFERENCE 7 (bases 1 to 4234)
AUTHORS Korotchkina,L.G. and Patel,M.S.
TITLE Mutagenesis studies of the phosphorylation sites of recombinant
human pyruvate dehydrogenase. Site-specific regulation
JOURNAL J. Biol. Chem. 270 (24), 14297-14304 (1995)
PUBMED 7782287
REFERENCE 8 (bases 1 to 4234)
AUTHORS Lawson,J.E., Niu,X.D., Browning,K.S., Trong,H.L., Yan,J. and
Reed,L.J.
TITLE Molecular cloning and expression of the catalytic subunit of bovine
pyruvate dehydrogenase phosphatase and sequence similarity with
protein phosphatase 2C
JOURNAL Biochemistry 32 (35), 8987-8993 (1993)
PUBMED 8396421
REMARK GeneRIF: Functional characterization of the bovine counterpart.
REFERENCE 9 (bases 1 to 4234)
AUTHORS Ito,M., Kobashi,H., Naito,E., Saijo,T., Takeda,E., Huq,A.H. and
Kuroda,Y.
TITLE Decrease of pyruvate dehydrogenase phosphatase activity in patients
with congenital lactic acidemia
JOURNAL Clin. Chim. Acta 209 (1-2), 1-7 (1992)
PUBMED 1327585
REMARK GeneRIF: In cultured skin fibroblasts from three patients with
congenital lactic acidemia due to a defect in activation of the
pyruvate dehydrogenase complex, the PDP-activity was significantly
reduced to 50.7%, 64.6% and 63.1% of that of control fibroblasts.
REFERENCE 10 (bases 1 to 4234)
AUTHORS Robinson,B.H. and Sherwood,W.G.
TITLE Pyruvate dehydrogenase phosphatase deficiency: a cause of
congenital chronic lactic acidosis in infancy
JOURNAL Pediatr. Res. 9 (12), 935-939 (1975)
PUBMED 172850
REMARK GeneRIF: In postmortem tissue samples, from male child with
metabolic acidosis, PDK normally reduced PDH-activity in
ATP-presence. Addition of Ca++ and Mg++ did not restored
PDH-activity. The defect was attributed to a markedly reduced
PDP-activity.
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA240240.1, AK126862.1 and
BX099681.1.
Summary: Pyruvate dehydrogenase (E1) is one of the three components
(E1, E2, and E3) of the large pyruvate dehydrogenase complex.
Pyruvate dehydrogenase kinases catalyze phosphorylation of serine
residues of E1 to inactivate the E1 component and inhibit the
complex. Pyruvate dehydrogenase phosphatases catalyze the
dephosphorylation and activation of the E1 component to reverse the
effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase
phosphatase is a heterodimer consisting of catalytic and regulatory
subunits. Two catalytic subunits have been reported; one is
predominantly expressed in skeletal muscle and another one is is
much more abundant in the liver. The catalytic subunit, encoded by
this gene, is the former, and belongs to the protein phosphatase 2C
(PP2C) superfamily. Along with the pyruvate dehydrogenase complex
and pyruvate dehydrogenase kinases, this enzyme is located in the
mitochondrial matrix. Mutation in this gene causes pyruvate
dehydrogenase phosphatase deficiency. Multiple alternatively
spliced transcript variants encoding different isoforms have been
identified.[provided by RefSeq, Jun 2009].
Transcript Variant: This variant (4) lacks an internal exon,
compared to variant 2. The difference causes translation initiation
at a downstream AUG and results in an isoform (3) with a shorter
N-terminus, compared to isoform 2.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: DA240240.1, DA320210.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025088 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-102 DA240240.1 1-102
103-163 DA240240.1 104-164
164-596 DA240240.1 166-598
597-4219 AK126862.1 1031-4653
4220-4234 BX099681.1 512-526
FEATURES Location/Qualifiers
source 1..4234
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8q22.1"
gene 1..4234
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/note="pyruvate dehyrogenase phosphatase catalytic subunit
1"
/db_xref="GeneID:54704"
/db_xref="HGNC:9279"
/db_xref="MIM:605993"
exon 1..168
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/inference="alignment:Splign:1.39.8"
variation 7
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:372548037"
variation 124
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:186315844"
exon 169..4221
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/inference="alignment:Splign:1.39.8"
variation 171
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:368896704"
variation 186
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:76597597"
variation 200
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:373914341"
CDS 213..1826
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/EC_number="3.1.3.43"
/note="isoform 3 is encoded by transcript variant 4;
pyruvate dehydrogenase (Lipoamide)
phosphatase-phosphatase; [Pyruvate dehydrogenase
[acetyl-transferring]]-phosphatase 1, mitochondrial;
protein phosphatase 2C, magnesium-dependent, catalytic
subunit; PDP 1; PDPC 1; pyruvate dehydrogenase phosphatase
catalytic subunit 1"
/codon_start=1
/product="pyruvate dehyrogenase phosphatase catalytic
subunit 1 isoform 3"
/protein_id="NP_001155253.1"
/db_xref="GI:239985428"
/db_xref="CCDS:CCDS6259.1"
/db_xref="GeneID:54704"
/db_xref="HGNC:9279"
/db_xref="MIM:605993"
/translation="
MPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKENWWQYTQGRRYASTPQKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPANAPIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLEIENAVESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAFKRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQEEDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKWSIDLQKRVIESGPDQLNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGLWETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFEDQNAATHLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE
"
misc_feature 537..1532
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/note="Serine/threonine phosphatases, family 2C, catalytic
domain; The protein architecture and deduced catalytic
mechanism of PP2C phosphatases are similar to the PP1,
PP2A, PP2B family of protein Ser/Thr phosphatases, with
which PP2C shares no sequence...; Region: PP2Cc; cd00143"
/db_xref="CDD:29062"
misc_feature order(570..572,582..587,642..650,1464..1466)
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/note="active site"
/db_xref="CDD:29062"
misc_feature 816..818
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q9P0J1.3); acetylation site"
variation 226
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:376864107"
variation 237
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:371323550"
variation 303
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:201452113"
variation 340
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:201081450"
variation 366
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:140713866"
variation 407
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:375147234"
variation 414
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:374758737"
variation 451
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:79439881"
variation 473
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:144544236"
variation 489
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:267606938"
variation 496
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:368756677"
variation 579
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:144604949"
variation 589
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:147845975"
variation 617
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:376531662"
variation 618
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:201131767"
variation 630
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:141399719"
variation 633
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:151019488"
variation 635
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:368265235"
variation 722
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:200661557"
variation 758
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:202034256"
variation 853
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:200145429"
variation 869
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:374859758"
variation 881
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:138512618"
variation 883
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:140780685"
variation 890
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:199977411"
variation 893
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:369055053"
variation 901
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:201467137"
variation 929
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:150112501"
variation 965
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:138553326"
variation 992
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:140224111"
variation 994
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:145915456"
variation 1067
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:201021364"
variation 1104
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:373016029"
variation 1118
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:138488258"
variation 1121
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:146222349"
variation 1125
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:149633208"
variation 1179
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:370143029"
variation 1191
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:373354872"
variation 1205
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:200054483"
variation 1233
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:144339806"
variation 1425
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:377342640"
variation 1440
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:369447724"
variation 1445
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:374326474"
variation 1454
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:148348306"
variation 1486
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:200222464"
variation 1493
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:141493326"
variation 1575
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:373946288"
variation 1614
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:377553463"
variation 1629
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:201132164"
variation 1643
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:147477305"
variation 1646
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:117294206"
variation 1658
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:137975172"
variation 1659
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:370390664"
variation 1667
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:374262682"
variation 1708
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:376060350"
variation 1732
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:145358369"
variation 1746
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:202225648"
variation 1770
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:202145000"
variation 1782
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:147237491"
variation 1826
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:139199750"
variation 1851
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:41272415"
variation 1862
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:4735258"
variation 1875
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:192535454"
variation 1877
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:149521176"
variation 1891
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:144036151"
variation 1897
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:148691545"
variation 1919
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:144473673"
variation 2199
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:185126352"
STS 2253..2504
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/standard_name="D8S1599"
/db_xref="UniSTS:1082"
variation 2317
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:41272417"
variation 2335
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:199846257"
STS 2376..2491
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/standard_name="SHGC-24323"
/db_xref="UniSTS:92277"
variation 2392
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:78884124"
variation 2436
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:190420045"
variation 2455
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:192629673"
variation 2457
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:911"
variation 2465
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:147461233"
variation 2481
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:185015320"
variation 2492
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:139623857"
variation 2633
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:188727327"
variation 2736
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:7461396"
variation 2756
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:180752222"
variation 2783
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:75265995"
variation 2828..2829
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:35866235"
variation 2833
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:185360919"
variation 3029..3030
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:35793146"
variation 3245
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:201779185"
variation 3313
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:189435075"
variation 3390
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:111728711"
variation 3435
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:186669527"
variation 3474
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:145384326"
variation 3475
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:377214447"
variation 3476
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:192025344"
variation 3484
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="t"
/db_xref="dbSNP:60316663"
variation 3562
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:116788695"
variation 3633
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:77734416"
variation 3748
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:139839619"
variation 3901
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="a"
/db_xref="dbSNP:368109978"
variation 3921
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:115434133"
STS 4073..4194
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/standard_name="STS-N47861"
/db_xref="UniSTS:64541"
variation 4081
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:183503324"
variation 4083
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:367694582"
variation 4089
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:145337691"
variation 4126..4127
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="a"
/db_xref="dbSNP:371346130"
variation 4162
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:186410170"
variation 4179
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:190113849"
polyA_signal 4195..4200
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
polyA_site 4221
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
ORIGIN
aagaatcgtttggtctcctgccgtgcccggttcgtattccctactccctgccacgagccgccccgtccgggatcctccacccgtccaaagttgtgagggggcgccgggcgtgctcgcggatcggcggccgcgggcgtgcggagggctggacgagccctggagcgccaggaatcccagtcagaagttccagcctgccactgttctctgatgccatgccagcaccaactcaactgttttttcctctcatccgtaactgtgaactgagcaggatctatggcactgcatgttactgccaccacaaacatctctgttgttcctcatcgtacattcctcagagtcgactgagatacacacctcatccagcatatgctaccttttgcaggccaaaggagaactggtggcagtacacccaaggaaggagatatgcttccacaccacagaaattttacctcacacctccacaagtcaatagcatccttaaagctaatgaatacagtttcaaagtgccagaatttgacggcaaaaatgtcagttctatccttggatttgacagcaatcagctgcctgcaaatgcacccattgaggaccggagaagtgcagcaacctgcttgcagaccagagggatgcttttgggggtttttgatggccatgcaggttgtgcttgttcccaggcagtcagtgaaagactcttttattatattgctgtctctttgttaccccatgagactttgctagagattgaaaatgcagtggagagcggccgggcactgctacccattctccagtggcacaagcaccccaatgattactttagtaaggaggcatccaaattgtactttaacagcttgaggacttactggcaagagcttatagacctcaacactggtgagtcgactgatattgatgttaaggaggctctaattaatgccttcaagaggcttgataatgacatctccttggaggcgcaagttggtgatcctaattcttttctcaactacctggtgcttcgagtggcattttctggagccactgcttgtgtggcccatgtggatggtgttgaccttcatgtggccaatactggcgatagcagagccatgctgggtgtgcaggaagaggacggctcatggtcagcagtcacgctgtctaatgaccacaatgctcaaaatgaaagagaactagaacggctgaaattggaacatccaaagagtgaggccaagagtgtcgtgaaacaggatcggctgcttggcttgctgatgccatttagggcatttggagatgtaaagttcaaatggagcattgaccttcaaaagagagtgatagaatctggcccagaccagttgaatgacaatgaatataccaagtttattcctcctaattatcacacacctccttatctcactgctgagccagaggtaacttaccaccgattaaggccacaggataagtttctggtgttggctactgatgggttgtgggagactatgcataggcaggatgtggttaggattgtgggtgagtacctaactggcatgcatcaccaacagccaatagctgttggtggctacaaggtgactctgggacagatgcatggccttttaacagaaaggagaaccaaaatgtcctcggtatttgaggatcagaacgcagcaacccatctcattcgccacgctgtgggcaacaacgagtttgggactgttgatcatgagcgcctctctaaaatgcttagtcttcctgaagagcttgctcgaatgtacagagatgacattacaatcattgtagttcagttcaattctcatgttgtaggggcgtatcaaaaccaagaatagtgagtggctctttcactggcaattctcaaatgatatacatttaaagggcagattttttaaaaagatactactataataaacatttccagttggtcattctaagcatttacccttttgatactctagctagtcaggtactccaaattgactttgcagcagggtggcagggtcaggagagtctggtcctgcctagctcagatttcatggcacctgcacttgaagcaagtcacttctttatcacaggtgtcttgaaacattagcttcttttaccaacctgagaaaattaggatgacctggcaaataagatcttgaataggccaaaagcaagtatcttgctgtgtgtagtctcttggttaaagtgaagaaacagtactgttcacacctttcttcactgagattccagtgtacatgagaacatatatttattgcatgattttctagatacacagtctatgcattattcatatacatttattttagcctaaagtggttttcaaatccagttcttcaagccataaatgaccaagatccaagcaatctgaatttgtttttgtgattatttgactggaatgcttcttaagtggaataactatactccgttatccacccgatttcctaatgtaattgaaagattttctattttgccacacacttggagacaataagggtttttagttttatctactcttctattgaagttaaagaaagaaaaaaagatttttttatttgtattaatgaaaagctttagtttaaaataaggagatccagaataaaaagaagagactgatctcttcaattattgtcatctgtagccaccagcacatcactcttatgtaatccccaaaggcttggcatgccgtaagtgtgtggtgggtagactgctgccggggaatcgtacttcttatttagtaatgataagacttttcattatttttggaattttaaagatgacataaataagtttaaatatcaatttggggagtaaggtttaatattgccatcgggtattgagacaggaggaagtttctgtttttctccatttagacataggtcaattaaaatatttgggtttaaaatgactaaatgctttaaacatattgtagcttaagatatatgtgttaagatatatacatgagaaactttaaaaggtaactactgtgcatgcctgatgcttaatagaatacttagtggcatcaaatgtttgcagcagtctccataattatattcagtcccttctaatactgtatcaatgtaaatgaaataaatatattcaaattggctttttgatatgcatcaagtggcattttgttcctgtgtttaatagtgatctgtatacagctgtgcacatattgtcatcacttattctagcatcactgttaaggctgtgattatgtttgatattcacctggattttaatacaagccaatatcagcttcccattgtgtaataacttgggtgtttaggagtcttttcacattttttggggatatgaactagatgttcaagaactccttctggactgtggatactgaatcagtgtactattggctgcagaatttgtttcaattgaaaatagactcaggaagattgctgctcagaatatcatataatgtttattttttgaggtgtttttgtttttatttgtgtgtttttttttttttaagtcagcttggaacttttttcctgggtagtatttgggagagggaaaggctgtactatatatttatttctaaatgttttgactgggcatttttcttttaatgaaatatgtggactgctctagcaaaccctattttcagctactatttgaatattcttgaacaccaccactgaagagtttcatatacaccaaataatgtctcatctctatagtacagggaatataaaattggtttcctgtggtcatgatcaagatagtagtattattacacaagaaacttggtctgcagtctggaagcttgtctgctctatagaaatgaaaatgcagcatgaagttgacattgtggaaatgaaagtaattgggtattagaaatctgaaagtactgtcatctaaaagcaattgtgattttattgtaattggttgtcactgttgtacggtgtctagaattaaagaatacatgtaaactttcatggtatttagcctttcttaaatttttttaaaatttaaactttctaacctatgtattcaacttctgtatttatatttaatcagtggttcatgttatataatacacccttaactagttaaatggaatgttggtatggtacagagtaccatattgctaagaaaactgtcttataaaagatgtatatgtgtgaagacatgaaagtttaatgtacagaatggttggagaaatgcctatggtgaattaaagcttcatatctgctttctgaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:54704 -> Molecular function: GO:0004722 [protein serine/threonine phosphatase activity] evidence: IDA
GeneID:54704 -> Molecular function: GO:0004741 [[pyruvate dehydrogenase (lipoamide)] phosphatase activity] evidence: IEA
GeneID:54704 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:54704 -> Biological process: GO:0006090 [pyruvate metabolic process] evidence: TAS
GeneID:54704 -> Biological process: GO:0010510 [regulation of acetyl-CoA biosynthetic process from pyruvate] evidence: TAS
GeneID:54704 -> Biological process: GO:0035970 [peptidyl-threonine dephosphorylation] evidence: IDA
GeneID:54704 -> Biological process: GO:0044237 [cellular metabolic process] evidence: TAS
GeneID:54704 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:54704 -> Cellular component: GO:0005759 [mitochondrial matrix] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001155253 -> EC 3.1.3.43
by
@meso_cacase at
DBCLS
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