PDP1 Gene
protein-coding GIFtS: 61
GCID: GC08P094870
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pyruvate dehyrogenase phosphatase catalytic subunit 1(Previous names: protein phosphatase 2C, magnesium-dependent, catalytic...) (Previous symbol: PPM2C)
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Aliases for PDP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 11 2 | | PDPC 12 3 | | PPM2C1 2 3 5 | | EC 3.1.3.433 8 | | PDP1 2 3 | | PDPC2 5 | | PDH1 2 | | [Pyruvate Dehydrogenase [Acetyl-Transferring]]-Phosphatase 1, Mitochondrial2 | | Protein Phosphatase 2C, Magnesium-Dependent, Catalytic Subunit1 2 | | Pyruvate Dehydrogenase (Lipoamide) Phosphatase-Phosphatase2 | | Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 12 3 | | Protein Phosphatase 2C3 | | PDP 12 3 | | EC 3.1.38 |
Export aliases for PDP1 gene to outside databasesPrevious GC identifers: GC08P094999 GC08P090137 |
Summaries for PDP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for PDP1: Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenasecomplex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activationof the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is aheterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one ispredominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalyticsubunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along withthe pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrialmatrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively splicedtranscript variants encoding different isoforms have been identified.(provided by RefSeq, Jun 2009) UniProtKB/Swiss-Prot: PDP1_HUMAN, Q9P0J1Function: Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of thepyruvate dehydrogenase complex (By similarity) Gene Wiki entry for PDP1 (Pyruvate dehydrogenase phosphatase)
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Genomic Views for PDP1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_008046.16
Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for PDP1 Other transcription factors
Search SABiosciences Chromatin IP Primers for PDP1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDP1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8q22.1 Ensembl cytogenetic band: 8q22.1 HGNC cytogenetic band: 8q22.1PDP1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08P094870: view genomic region
(about GC identifiers)
Start:
|
94,870,035 bp from pter |
End:
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94,938,296 bp from pter |
Size:
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68,262 bases |
Orientation:
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plus strand |
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Proteins for PDP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: PDP1_HUMAN, Q9P0J1 (See
protein sequence)Recommended Name: [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial precursor Size: 537 amino acids; 61054 Da
Cofactor: Binds 2 magnesium ions per subunit (By similarity)
Subunit: Heterodimer of a catalytic (PDP1) and a regulatory (PDPR) subunit (By similarity)
Subcellular location: Mitochondrion matrix (By similarity)
Sequence caution: Sequence=AAF67480.1; Type=Erroneous initiation;
Secondary accessions: B3KX71 Q5U5K1Explore the universe of human proteins at neXtProt for PDP1: NX_Q9P0J1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9P0J1 4/11 DME Specific Peptides for PDP1 (Q9P0J1) (see all 11)
PDP1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001155251.1 NP_001155252.1 NP_001155253.1 NP_060914.2 ENSEMBL proteins: ENSP00000297598 ENSP00000430931 ENSP00000428317 ENSP00000430366 ENSP00000428433 ENSP00000430380 ENSP00000430655 ENSP00000429492 ENSP00000379503 Reactome Protein details: Q9P0J1 Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
-- | -- | | GO:0005759 | mitochondrial matrix |
TAS | -- | | GO:0008287 | protein serine/threonine phosphatase complex |
-- | -- |
PDP1 for ontologies About GeneDecksing
PDP1 Antibody Products: Assay Products for PDP1: |
Protein
Domains / Families for PDP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PDP1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9P0J1ProtoNet protein and cluster: Q9P0J1 UniProtKB/Swiss-Prot: PDP1_HUMAN, Q9P0J1Similarity: Belongs to the PP2C family |
Function for PDP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: PDP1_HUMAN, Q9P0J1Function: Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of thepyruvate dehydrogenase complex (By similarity)Catalytic activity: [Pyruvate dehydrogenase (acetyl-transferring)] phosphate + H(2)O = [pyruvate dehydrogenase(acetyl-transferring)] + phosphateEnzyme Numbers (IUBMB): EC 3.1.3.431 2 EC 3.1.32
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PDP1 (see all 9) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PDP1 (see all 5) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): PDP1 (NM_018444) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PDP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDP1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDP1 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004722 | protein serine/threonine phosphatase activity |
IDA | -- | | GO:0004724 | magnesium-dependent protein serine/threonine phosphatase activity |
-- | -- | | GO:0004741 | [pyruvate dehydrogenase (lipoamide)] phosphatase activity |
IEA | -- | | GO:0005509 | calcium ion binding |
-- | -- | | GO:0032403 | protein complex binding |
-- | -- |
PDP1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for PDP1:
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Pathways & Interactions for PDP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Pyruvate metabolism | | | 2 | Apoptosis and survival BAD phosphorylation | | | 3 | TCA Cycle | | | 4 | Metabolism | | | 5 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | |
Pathway sources See GeneCards unified pathways Show all pathways
1 EMD Millipore Pathway for PDP1
2 GeneGo (Thomson Reuters) Pathways for PDP1 1 BioSystems Pathway for PDP1 
5
Reactome Pathways for PDP1
PDP1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PDP1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/48 Interacting proteins for PDP1 (Q9P0J12, 3 ENSP000002975984) via UniProtKB, MINT, STRING, and/or I2D (see all 48)About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006090 | pyruvate metabolic process |
TAS | -- | | GO:0006470 | protein dephosphorylation |
-- | -- | | GO:0010510 | regulation of acetyl-CoA biosynthetic process from pyruvate |
TAS | -- | | GO:0035970 | peptidyl-threonine dephosphorylation |
IDA | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
PDP1 for ontologies About GeneDecksing
|
Drugs & Compounds for PDP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PDP1 for compounds About GeneDecksing
Browse Tocris compounds for PDP1
4 HMDB Compounds for PDP1 About this table 10/54 Novoseek chemical compound relationships for PDP1 gene (see all 54) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| pyruvate |
92.8 |
369 |
10205302 (4), 12467446 (3), 10409125 (3), 10913026 (3) (see all 99) |
| dichloroacetate |
85 |
65 |
10449128 (7), 10409125 (5), 18206410 (3), 9818855 (3) (see all 20) |
| acetyl-coa |
72.5 |
17 |
9089387 (2), 10826498 (2), 14681844 (2), 8102832 (1) (see all 14) |
| abscisic acid |
71 |
30 |
11587514 (2), 19407142 (2), 12602867 (2), 19458118 (2) (see all 17) |
| glycogen |
67.4 |
33 |
19833896 (4), 8102832 (3), 11433007 (2), 9688676 (2) (see all 23) |
| lactate |
65.5 |
58 |
16403777 (3), 1736740 (3), 9593822 (2), 10776894 (2) (see all 36) |
| acetyl-l-carnitine |
63 |
2 |
11001755 (1), 10826498 (1) |
| alpha-ketoglutarate |
61.7 |
9 |
1380527 (1), 8133737 (1), 9746330 (1), 14715435 (1) (see all 8) |
| dihydrolipoamide |
61 |
2 |
14708897 (1), 16904023 (1) |
| thiamine pyrophosphate |
59.7 |
6 |
19043979 (3), 7808831 (1) |
Search CenterWatch for drugs/clinical trials and news about PDP1 
|
Transcripts for PDP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for PDP1 gene (5 alternative transcripts): NM_001161779.1 NM_001161780.1 NM_001161781.1 NM_018444.3 NM_001161778.1 Unigene Cluster for PDP1: Pyruvate dehyrogenase phosphatase catalytic subunit 1 Hs.22265 [show with all ESTs]Unigene Representative Sequence: NM_00116177910 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000523021 ENST00000297598(uc003ygf.3 uc003yge.3) ENST00000520614 ENST00000520728 ENST00000518107 ENST00000518573 ENST00000517764 ENST00000518827 ENST00000521144 ENST00000396200(uc010max.3 uc011lgm.2 uc011lgn.2)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PDP1 (see all 9) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PDP1 (see all 5) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): PDP1 (NM_018444) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PDP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDP1  |
Additional cDNA sequence: AF155661.1 AK022057.1 AK057079.1 AK302651.1 BC047619.1 BC064978.1 BC098343.1 9 DOTS entries: DT.313132 DT.95175006 DT.100786820 DT.97840685 DT.121482420 DT.91685658 DT.100786819 DT.121482407 DT.95093913 24/159 AceView cDNA sequences (see all 159): N51125 AK057079 BM973633 AW954308 BX099681 AI024308 CD672895 R17603 AL698824 AA679848 T36270 BE326962 F12638 AK126862 BX473459 Z38909 BE221840 CB242729 BC064978 BC047619 NM_018444 BE222048 BX472714 T08925 GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PDP1 (see all 7) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | |
| SP1: | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |
| SP3: | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for PDP1
|
Expression for PDP1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PDP1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: AAAGTTTAAT
About this image See PDP1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PDP1
SOURCE GeneReport for Unigene cluster: Hs.22265 SABiosciences Expression via Pathway-Focused PCR Array including PDP1:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PDP1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PDP1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PDP1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PDP1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDP1 |
Orthologs for PDP1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for PDP1 gene from 9/29 species (see all 29) About this table
ENSEMBL Gene Tree for PDP1 (if available) TreeFam Gene Tree for PDP1 (if available)  |
Paralogs for PDP1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for PDP1 gene
- PDP22
2 SIMAP similar genes for PDP1 using alignment to 7 protein entries: PDP1_HUMAN (see all proteins):PPM2C PDP2
PDP1 for paralogs About GeneDecksing
|
Genomic Variants for PDP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 8 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for PDP1 (94870035 - 94938296 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for PDP1: -- Human Gene Mutation Database (HGMD): PDP1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PDP1 |
|
Disorders
/ Diseases for PDP1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PDP1 for disorders About GeneDecksing
OMIM gene information: 605993 OMIM disorders: 608782 UniProtKB/Swiss-Prot: PDP1_HUMAN, Q9P0J1
Defects in PDP1 are the cause of pyruvate dehydrogenase phosphatase deficiency (PDP deficiency) [MIM:608782].PDP deficiency results in lactic acidosis leading to neurological dysfunction 20/42 diseases for PDP1 (see all 42): About MalaCardspyruvate dehydrogenase phosphatase deficiency primary hypertrophic osteoarthropathy lactic acidosis primary biliary cirrhosis sarcosinemia frey syndrome insulin resistance cystic fibrosis alexia pasteurellosis lupus erythematosus diabetes mellitus hyperprolactinemia phenylketonuria myocardial infarction mumps squamous cell carcinoma hyperandrogenism hyperglycemia alzheimer's disease
2 diseases from the University of Copenhagen DISEASES database for PDP1:Atypical autism Pasteurellosis 10/33 Novoseek disease relationships for PDP1 gene (see all 33) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| primary lactic acidosis |
86.3 |
4 |
10449128 (1), 8983728 (1), 1528021 (1), 9818855 (1) |
| lactic acidemia |
70.1 |
4 |
1327585 (2), 9818854 (1) |
| acidosis lactic |
67 |
9 |
9530159 (1), 18197404 (1), 12551913 (1), 16981164 (1) (see all 9) |
| biliary cirrhosis primary |
60.7 |
9 |
2387091 (2), 1380527 (1), 8348753 (1), 7586732 (1) (see all 8) |
| mitochondrial diseases |
44 |
3 |
10449128 (1), 9818855 (1), 17384007 (1) |
| leigh syndrome |
42.9 |
1 |
19341700 (1) |
| peroxisomal disorders |
35.4 |
1 |
8105143 (1) |
| insulin resistance |
31.1 |
10 |
10878680 (3), 2407584 (2), 9426381 (2), 1828239 (1) (see all 6) |
| niddm |
27.5 |
20 |
7833497 (4), 9517374 (3), 2407584 (2), 2121778 (2) (see all 8) |
| insulin sensitivity |
25.2 |
5 |
15897476 (2), 9419751 (1), 10878680 (1), 10333946 (1) |
Human Genome Epidemiology (HuGE) Navigator: PDP1 (1 document) Export disorders for PDP1 gene to outside databases
|
Publications for PDP1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PDP1 gene, integrated from 9 sources (see all 283): (articles sorted by number of sources associating them with PDP1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. (PubMed id 15855260)1, 2, 9 Maj M.C.... Cameron J.M. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
- Molecular cloning and expression of the catalytic subunit of bovine pyruvate dehydrogenase phosphatase and sequence similarity with protein phosphatase 2C. (PubMed id 8396421)1, 3 Lawson J.E....Reed L.J. (1993)
- Down-regulation of pyruvate dehydrogenase phosphatase in obese subjects is a defect that signals insulin resistance. (PubMed id 15897476)1, 9 Piccinini M....Rinaudo M.T. (2005)
- Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. (PubMed id 19184109)1, 9 Cameron J.M....Robinson B.H. (2009)
- Decreased PDH activation and glycogenolysis during exercise following fat adaptation with carbohydrate restoration. (PubMed id 16188909)1, 9 Stellingwerff T....Burke L.M. (2006)
- Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia. (PubMed id 1327585)1, 9 Ito M....Kuroda Y. (1992)
- Crystallization and preliminary crystallographic stud ies of the catalytic subunits of human pyruvate dehydrogenase phosphatase isofo rms 1 and 2. (PubMed id 20208177)1, 9 Kato J. and Kato M. (2010)
|
External Searches for PDP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing PDP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing PDP1 gene
(According to HUGE)
About This Section
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Specialized Databases showing PDP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| PharmGKB entry for PDP1 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for PDP1 gene: Search GeneIP for patents involving PDP1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for PDP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | Browse OriGene Antibodies | | Browse OriGene shRNA RFPs | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PDP1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PDP1 | | OriGene Protein Over-expression Lysate for PDP1 | | Browse OriGene Fluorogenic Cell Assay Kits | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for PDP1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PDP1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PDP1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for PDP1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for PDP1 | | OriGene Custom Protein Services for PDP1 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PDP1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PDP1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDP1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PDP1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PDP1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PDP1 |
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| | | Search Tocris compounds for PDP1 |
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 | | PDP1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDP1 |
|  |  |  | | | Search ThermoFisher Antibodies for PDP1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDP1 |
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