Home |
Help |
Advanced search
2024-04-25 08:29:50, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001161780 4247 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1
(PDP1), transcript variant 3, mRNA.
ACCESSION NM_001161780
VERSION NM_001161780.1 GI:239985425
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 4247)
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 4247)
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 4247)
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 4247)
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 4247)
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 4247)
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 4247)
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 4247)
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 4247)
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 4247)
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 DA507397.1, BC064978.1,
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 (3) lacks an internal segment in
the 5' UTR, compared to variant 2. Variants 2 and 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 :: DA775855.1, BC064978.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [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
1-16 DA507397.1 1-16
17-2542 BC064978.1 1-2526
2543-4232 AK126862.1 2964-4653
4233-4247 BX099681.1 512-526
FEATURES Location/Qualifiers
source 1..4247
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8q22.1"
gene 1..4247
/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..146
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/inference="alignment:Splign:1.39.8"
variation 55
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:202016823"
variation 124
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:372548037"
exon 147..181
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/inference="alignment:Splign:1.39.8"
CDS 151..1839
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/EC_number="3.1.3.43"
/note="isoform 2 is encoded by transcript variant 3;
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_001155252.1"
/db_xref="GI:239985426"
/db_xref="CCDS:CCDS55262.1"
/db_xref="GeneID:54704"
/db_xref="HGNC:9279"
/db_xref="MIM:605993"
/translation="
MCVCPGPRRIGIPVRSSSLPLFSDAMPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKENWWQYTQGRRYASTPQKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPANAPIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLEIENAVESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAFKRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQEEDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKWSIDLQKRVIESGPDQLNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGLWETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFEDQNAATHLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE
"
misc_feature 550..1545
/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(583..585,595..600,655..663,1477..1479)
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/note="active site"
/db_xref="CDD:29062"
exon 182..4234
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/inference="alignment:Splign:1.39.8"
variation 184
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:368896704"
variation 199
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:76597597"
variation 213
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:373914341"
variation 239
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:376864107"
variation 250
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:371323550"
variation 316
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:201452113"
variation 353
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:201081450"
variation 379
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:140713866"
variation 420
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:375147234"
variation 427
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:374758737"
variation 464
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:79439881"
variation 486
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:144544236"
variation 502
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:267606938"
variation 509
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:368756677"
variation 592
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:144604949"
variation 602
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:147845975"
variation 630
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:376531662"
variation 631
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:201131767"
variation 643
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:141399719"
variation 646
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:151019488"
variation 648
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:368265235"
variation 735
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:200661557"
variation 771
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:202034256"
variation 866
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:200145429"
variation 882
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:374859758"
variation 894
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:138512618"
variation 896
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:140780685"
variation 903
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:199977411"
variation 906
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:369055053"
variation 914
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:201467137"
variation 942
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:150112501"
variation 978
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:138553326"
variation 1005
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:140224111"
variation 1007
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:145915456"
variation 1080
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:201021364"
variation 1117
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:373016029"
variation 1131
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:138488258"
variation 1134
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:146222349"
variation 1138
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:149633208"
variation 1192
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:370143029"
variation 1204
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:373354872"
variation 1218
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:200054483"
variation 1246
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:144339806"
variation 1438
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:377342640"
variation 1453
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:369447724"
variation 1458
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:374326474"
variation 1467
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:148348306"
variation 1499
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:200222464"
variation 1506
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:141493326"
variation 1588
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:373946288"
variation 1627
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:377553463"
variation 1642
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:201132164"
variation 1656
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:147477305"
variation 1659
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:117294206"
variation 1671
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:137975172"
variation 1672
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:370390664"
variation 1680
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:374262682"
variation 1721
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:376060350"
variation 1745
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:145358369"
variation 1759
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:202225648"
variation 1783
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:202145000"
variation 1795
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:147237491"
variation 1839
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:139199750"
variation 1864
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:41272415"
variation 1875
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:4735258"
variation 1888
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:192535454"
variation 1890
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:149521176"
variation 1904
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:144036151"
variation 1910
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:148691545"
variation 1932
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:144473673"
variation 2212
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:185126352"
STS 2266..2517
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/standard_name="D8S1599"
/db_xref="UniSTS:1082"
variation 2330
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:41272417"
variation 2348
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:199846257"
STS 2389..2504
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/standard_name="SHGC-24323"
/db_xref="UniSTS:92277"
variation 2405
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:78884124"
variation 2449
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:190420045"
variation 2468
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:192629673"
variation 2470
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:911"
variation 2478
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:147461233"
variation 2494
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:185015320"
variation 2505
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:139623857"
variation 2646
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:188727327"
variation 2749
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:7461396"
variation 2769
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:180752222"
variation 2796
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:75265995"
variation 2841..2842
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:35866235"
variation 2846
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:185360919"
variation 3042..3043
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:35793146"
variation 3258
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:201779185"
variation 3326
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:189435075"
variation 3403
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="c"
/db_xref="dbSNP:111728711"
variation 3448
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="g"
/db_xref="dbSNP:186669527"
variation 3487
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="g"
/db_xref="dbSNP:145384326"
variation 3488
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:377214447"
variation 3489
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:192025344"
variation 3497
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="t"
/db_xref="dbSNP:60316663"
variation 3575
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="g"
/db_xref="dbSNP:116788695"
variation 3646
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:77734416"
variation 3761
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:139839619"
variation 3914
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="a"
/db_xref="dbSNP:368109978"
variation 3934
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:115434133"
STS 4086..4207
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/standard_name="STS-N47861"
/db_xref="UniSTS:64541"
variation 4094
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:183503324"
variation 4096
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:367694582"
variation 4102
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="c"
/replace="t"
/db_xref="dbSNP:145337691"
variation 4139..4140
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace=""
/replace="a"
/db_xref="dbSNP:371346130"
variation 4175
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="a"
/replace="t"
/db_xref="dbSNP:186410170"
variation 4192
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
/replace="g"
/replace="t"
/db_xref="dbSNP:190113849"
polyA_signal 4208..4213
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
polyA_site 4234
/gene="PDP1"
/gene_synonym="PDH; PDP; PDPC; PPM2C"
ORIGIN
acggtaggggagcagagtgggcaggccgggggtgagggctcgcgctccgggagctgcacggggctgcgtggaaagagcgccgagcggtggcgtcgttgtcgccccctcctcgtcgggaagaatcgtttggtctcctgccgtgcccggagaatgtgtgtgtgtcccgggcccagacgaattggaatcccagtcagaagttccagcctgccactgttctctgatgccatgccagcaccaactcaactgttttttcctctcatccgtaactgtgaactgagcaggatctatggcactgcatgttactgccaccacaaacatctctgttgttcctcatcgtacattcctcagagtcgactgagatacacacctcatccagcatatgctaccttttgcaggccaaaggagaactggtggcagtacacccaaggaaggagatatgcttccacaccacagaaattttacctcacacctccacaagtcaatagcatccttaaagctaatgaatacagtttcaaagtgccagaatttgacggcaaaaatgtcagttctatccttggatttgacagcaatcagctgcctgcaaatgcacccattgaggaccggagaagtgcagcaacctgcttgcagaccagagggatgcttttgggggtttttgatggccatgcaggttgtgcttgttcccaggcagtcagtgaaagactcttttattatattgctgtctctttgttaccccatgagactttgctagagattgaaaatgcagtggagagcggccgggcactgctacccattctccagtggcacaagcaccccaatgattactttagtaaggaggcatccaaattgtactttaacagcttgaggacttactggcaagagcttatagacctcaacactggtgagtcgactgatattgatgttaaggaggctctaattaatgccttcaagaggcttgataatgacatctccttggaggcgcaagttggtgatcctaattcttttctcaactacctggtgcttcgagtggcattttctggagccactgcttgtgtggcccatgtggatggtgttgaccttcatgtggccaatactggcgatagcagagccatgctgggtgtgcaggaagaggacggctcatggtcagcagtcacgctgtctaatgaccacaatgctcaaaatgaaagagaactagaacggctgaaattggaacatccaaagagtgaggccaagagtgtcgtgaaacaggatcggctgcttggcttgctgatgccatttagggcatttggagatgtaaagttcaaatggagcattgaccttcaaaagagagtgatagaatctggcccagaccagttgaatgacaatgaatataccaagtttattcctcctaattatcacacacctccttatctcactgctgagccagaggtaacttaccaccgattaaggccacaggataagtttctggtgttggctactgatgggttgtgggagactatgcataggcaggatgtggttaggattgtgggtgagtacctaactggcatgcatcaccaacagccaatagctgttggtggctacaaggtgactctgggacagatgcatggccttttaacagaaaggagaaccaaaatgtcctcggtatttgaggatcagaacgcagcaacccatctcattcgccacgctgtgggcaacaacgagtttgggactgttgatcatgagcgcctctctaaaatgcttagtcttcctgaagagcttgctcgaatgtacagagatgacattacaatcattgtagttcagttcaattctcatgttgtaggggcgtatcaaaaccaagaatagtgagtggctctttcactggcaattctcaaatgatatacatttaaagggcagattttttaaaaagatactactataataaacatttccagttggtcattctaagcatttacccttttgatactctagctagtcaggtactccaaattgactttgcagcagggtggcagggtcaggagagtctggtcctgcctagctcagatttcatggcacctgcacttgaagcaagtcacttctttatcacaggtgtcttgaaacattagcttcttttaccaacctgagaaaattaggatgacctggcaaataagatcttgaataggccaaaagcaagtatcttgctgtgtgtagtctcttggttaaagtgaagaaacagtactgttcacacctttcttcactgagattccagtgtacatgagaacatatatttattgcatgattttctagatacacagtctatgcattattcatatacatttattttagcctaaagtggttttcaaatccagttcttcaagccataaatgaccaagatccaagcaatctgaatttgtttttgtgattatttgactggaatgcttcttaagtggaataactatactccgttatccacccgatttcctaatgtaattgaaagattttctattttgccacacacttggagacaataagggtttttagttttatctactcttctattgaagttaaagaaagaaaaaaagatttttttatttgtattaatgaaaagctttagtttaaaataaggagatccagaataaaaagaagagactgatctcttcaattattgtcatctgtagccaccagcacatcactcttatgtaatccccaaaggcttggcatgccgtaagtgtgtggtgggtagactgctgccggggaatcgtacttcttatttagtaatgataagacttttcattatttttggaattttaaagatgacataaataagtttaaatatcaatttggggagtaaggtttaatattgccatcgggtattgagacaggaggaagtttctgtttttctccatttagacataggtcaattaaaatatttgggtttaaaatgactaaatgctttaaacatattgtagcttaagatatatgtgttaagatatatacatgagaaactttaaaaggtaactactgtgcatgcctgatgcttaatagaatacttagtggcatcaaatgtttgcagcagtctccataattatattcagtcccttctaatactgtatcaatgtaaatgaaataaatatattcaaattggctttttgatatgcatcaagtggcattttgttcctgtgtttaatagtgatctgtatacagctgtgcacatattgtcatcacttattctagcatcactgttaaggctgtgattatgtttgatattcacctggattttaatacaagccaatatcagcttcccattgtgtaataacttgggtgtttaggagtcttttcacattttttggggatatgaactagatgttcaagaactccttctggactgtggatactgaatcagtgtactattggctgcagaatttgtttcaattgaaaatagactcaggaagattgctgctcagaatatcatataatgtttattttttgaggtgtttttgtttttatttgtgtgtttttttttttttaagtcagcttggaacttttttcctgggtagtatttgggagagggaaaggctgtactatatatttatttctaaatgttttgactgggcatttttcttttaatgaaatatgtggactgctctagcaaaccctattttcagctactatttgaatattcttgaacaccaccactgaagagtttcatatacaccaaataatgtctcatctctatagtacagggaatataaaattggtttcctgtggtcatgatcaagatagtagtattattacacaagaaacttggtctgcagtctggaagcttgtctgctctatagaaatgaaaatgcagcatgaagttgacattgtggaaatgaaagtaattgggtattagaaatctgaaagtactgtcatctaaaagcaattgtgattttattgtaattggttgtcactgttgtacggtgtctagaattaaagaatacatgtaaactttcatggtatttagcctttcttaaatttttttaaaatttaaactttctaacctatgtattcaacttctgtatttatatttaatcagtggttcatgttatataatacacccttaactagttaaatggaatgttggtatggtacagagtaccatattgctaagaaaactgtcttataaaagatgtatatgtgtgaagacatgaaagtttaatgtacagaatggttggagaaatgcctatggtgaattaaagcttcatatctgctttctgaaaaaaaaaaaaaaa
//
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_001155252 -> EC 3.1.3.43
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.