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PDPR Gene

protein-coding   GIFtS: 52
GCID: GC16P070148

Pyruvate Dehydrogenase Phosphatase Regulatory Subunit

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Pyruvate Dehydrogenase Phosphatase Regulatory Subunit1 2
PDP32
Pyruvate Dehydrogenase Phosphatase Regulatory Subunit, Mitochondrial2
KIAA19903
PDPr3

External Ids:    HGNC: 302641   Entrez Gene: 550662   Ensembl: ENSG000000908577   UniProtKB: Q8NCN53   

Export aliases for PDPR gene to outside databases

Previous GC identifers: GC16P069883 GC16P069923 GC16P068705 GC16P056002


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PDPR Gene:
PDPR (pyruvate dehydrogenase phosphatase regulatory subunit) is a protein-coding gene. Diseases associated with PDPR include sarcosinemia, and malaria. GO annotations related to this gene include oxidoreductase activity and aminomethyltransferase activity. An important paralog of this gene is SARDH.

UniProtKB/Swiss-Prot: PDPR_HUMAN, Q8NCN5
Function: Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine
spermine (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the PDPR gene promoter:
         Max1   FOXI1   HFH-3   USF1   USF-1   FOXO4   USF2   USF-1:USF-2   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PDPR promoter sequence
   Search Chromatin IP Primers for PDPR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDPR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

PDPR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDPR gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P070148:  view genomic region     (about GC identifiers)

Start:
70,147,529 bp from pter      End:
70,195,203 bp from pter
Size:
47,675 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PDPR_HUMAN, Q8NCN5 (See protein sequence)
Recommended Name: Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial precursor  
Size: 879 amino acids; 99364 Da
Subunit: Heterodimer of a catalytic (PDP1) and a regulatory (PDPR) subunit (By similarity)
Caution: It is uncertain whether Met-1 or Met-2 is the initiator
Sequence caution: Sequence=BAC02699.1; Type=Erroneous initiation; Sequence=BAF85191.1; Type=Erroneous initiation;
Secondary accessions: A7E298 A8K8Y7 Q6AI20 Q6AWC9

Explore the universe of human proteins at neXtProt for PDPR: NX_Q8NCN5

Explore proteomics data for PDPR at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys100
  • Modification sites at PhosphoSitePlus

  • See PDPR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060460.4  
    ENSEMBL proteins: 
     ENSP00000288050   ENSP00000381190   ENSP00000457916   ENSP00000455764   ENSP00000457636  
     ENSP00000457961   ENSP00000456959   ENSP00000456385   ENSP00000457484   ENSP00000441690  
    Reactome Protein details: Q8NCN5

    PDPR Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PDPR

    PDPR Antibody Products:

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    Search for Antibodies for PDPR at Abcam
    Cloud-Clone Corp. Antibodies for PDPR
    Search ThermoFisher Antibodies for PDPR
    LSBio Antibodies in human, mouse, rat for PDPR

    PDPR Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PDPR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PDPR
    Cloud-Clone Corp. CLIAs for PDPR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR006076 FAD-dep_OxRdtase
     IPR006222 GCV_T_N
     IPR027266 TrmE/GcvT_dom1
     IPR013977 GCV_T_C

    Graphical View of Domain Structure for InterPro Entry Q8NCN5

    ProtoNet protein and cluster: Q8NCN5

    1 Blocks protein domain: IPB006222 Glycine cleavage T protein (aminomethyl transferase)

    UniProtKB/Swiss-Prot: PDPR_HUMAN, Q8NCN5
    Similarity: Belongs to the GcvT family


    PDPR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PDPR_HUMAN, Q8NCN5
    Function: Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine
    spermine (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004047aminomethyltransferase activity IEA--
    GO:0016491oxidoreductase activity IEA--
         
    PDPR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PDPR:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDPR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PDPR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDPR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDPR

    miRNA
    Products:
        
    miRTarBase miRNAs that target PDPR:
    hsa-mir-124-3p (MIRT023174), hsa-mir-18a-3p (MIRT040806), hsa-let-7b-5p (MIRT032497), hsa-mir-16-5p (MIRT032052), hsa-mir-155-5p (MIRT020998)

    Block miRNA regulation of human, mouse, rat PDPR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PDPR (see all 50):
    hsa-let-7d hsa-miR-106a hsa-miR-15a hsa-miR-200a hsa-miR-877* hsa-miR-141 hsa-let-7g hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidPDPR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PDPR
    Predesigned siRNA for gene silencing in human, mouse, rat PDPR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PDPR

    Clone
    Products:
         
    OriGene clones in human, mouse for PDPR (see all 6)
    OriGene ORF clones in mouse, rat for PDPR
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    GenScript: all cDNA clones in your preferred vector: PDPR (NM_017990)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDPR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDPR

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PDPR
    Browse ESI BIO Cell Lines and PureStem Progenitors for PDPR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDPR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PDPR_HUMAN, Q8NCN5: Mitochondrion matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol2
    peroxisome2
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    PDPR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PDPR About    
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Pyruvate metabolism0.00
    Regulation of pyruvate dehydrogenase (PDH) complex0.00
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    3Metabolism
    Metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PDPR
        Regulation of pyruvate dehydrogenase (PDH) complex



    PDPR for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PDPR: 
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PDPR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for PDPR (Q8NCN53 ENSP000002880504) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCAM2O153943I2D: score=1 
    GCSHENSP000003195314STRING: ENSP00000319531
    UBCENSP000003448184STRING: ENSP00000344818
    RTF1ENSP000003742804STRING: ENSP00000374280
    VTI1AENSP000003767924STRING: ENSP00000376792
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006090pyruvate metabolic process TAS--
    GO:0006546glycine catabolic process IEA--
    GO:0010510regulation of acetyl-CoA biosynthetic process from pyruvate TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    PDPR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PDPR

    6 HMDB Compounds for PDPR    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--
    NorspermidineN-(3-aminopropyl)-1,3-Propanediamine (see all 28)56-18-8--
    Putrescine1,4-Butanediamine (see all 8)110-60-1--
    Spermidine1,5,10-Triazadecane (see all 15)124-20-9--
    Spermine1,5,10,14-Tetraazatetradecane (see all 18)71-44-3--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PDPR gene: 
    NM_017990.3  

    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000288050(uc002eyf.1 uc010vlr.1) ENST00000561920 ENST00000398122
    ENST00000568530(uc002eyg.1 uc002eyh.2 uc010vls.1) ENST00000565186
    ENST00000562100 ENST00000569042 ENST00000563930 ENST00000567046 ENST00000564563
    ENST00000567896 ENST00000542659
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PDPR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PDPR (see all 50):
    hsa-let-7d hsa-miR-106a hsa-miR-15a hsa-miR-200a hsa-miR-877* hsa-miR-141 hsa-let-7g hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidPDPR 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PDPR
    Predesigned siRNA for gene silencing in human, mouse, rat PDPR
    Clone
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    OriGene clones in human, mouse for PDPR (see all 6)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PDPR (NM_017990)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDPR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDPR
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PDPR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDPR
      QuantiTect SYBR Green Assays in human, mouse, rat PDPR
      QuantiFast Probe-based Assays in human, mouse, rat PDPR

    Selected AceView cDNA sequences (see all 249):

    AI200997 CA748976 NM_017990 Z45314 BM857491 AA780940 F04926 BQ477432 
    AW770111 BU160594 BX537614 BM977808 CA424902 BM675345 BX279542 BU624724 
    BQ009116 BM714580 AA469058 AA381324 F04207 AB082521 BQ477854 BC006246 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PDPR    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
    SP1:                                                            
    SP2:                          -                                 
    SP3:              -           -                                 


    ECgene alternative splicing isoforms for PDPR

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PDPR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATAGGGTCA
    PDPR Expression
    About this image


    PDPR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Heart (Cardiovascular System)
     
     Skeletal Muscle (Muscoskeletal System)
    PDPR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDPR Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including PDPR: 
              Glucose Metabolism in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PDPR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDPR
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDPR

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PDPR gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdpr1 , 5 pyruvate dehydrogenase phosphatase regulatory subunit1, 5 88.61(n)1
    92.26(a)1
      8 (57.95 cM)5
    3195181  NM_198308.11  NP_938050.11 
     1110946305 
    chicken
    (Gallus gallus)
    Aves PDPR1 pyruvate dehydrogenase phosphatase regulatory subunit 77.36(n)
    83.28(a)
      415683  XM_414050.4  XP_414050.2 
    lizard
    (Anolis carolinensis)
    Reptilia PDPR6
    pyruvate dehydrogenase phosphatase regulatory subu...
    84(a)
    1 ↔ 1
    GL343891.1(55297-85193)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.187542 Transcribed sequence with moderate similarity to protein more 80.69(n)    CF783997.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636622 hypothetical protein MGC63662 77.68(n)   393449  BC055193.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG36261 CG3626 53.38(n)
    44.69(a)
      31377  NM_131934.1  NP_572162.2 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y106G6H.51 CELE_Y106G6H.5 47.22(n)
    38.7(a)
      172922  NM_060329.4  NP_492730.2 


    ENSEMBL Gene Tree for PDPR (if available)
    TreeFam Gene Tree for PDPR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDPR gene
    SARDH2  DMGDH2  
    2 SIMAP similar genes for PDPR using alignment to 9 protein entries:     PDPR_HUMAN (see all proteins):
    DMGDH    SARDH

    PDPR for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for PDPR
    PGOHUM00000262303 PGOHUM00000262304 PGOHUM00000262305


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PDPR (see all 1277)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2074761401,2
    Cuntested170154583(+) CTCCAA/GAATGG 2 K R mis10--------
    rs114899161,2
    C--70145529(+) AAGACG/ATGGTG 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs80600421,2
    C--70145675(+) ggcacG/Acgcct 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1414277851,2
    --70145788(+) GACAGA/GGTGAG 1 -- us2k10--------
    rs1836926021,2
    --70145819(+) AATAGC/GCTGGA 1 -- us2k10--------
    rs1133563951,2
    C,F--70146057(+) ACCACG/ACCATT 1 -- us2k12Minor allele frequency- A:0.50NA WA 4
    rs29110171,2
    --70146129(-) AGGGGA/GTTGAG 1 -- us2k1 tfbs30--------
    rs99281671,2
    C--70146188(+) CCATCA/TTTGAC 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs2010323051,2
    --70146220(+) TACTT-/CCCTTT 1 -- us2k10--------
    rs29111011,2
    --70146258(+) ctgtcA/Gcctag 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PDPR (70147529 - 70195203 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PDPR (see all 44):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714669CNV Deletion23290073
    esv2657437CNV Deletion23128226
    nsv820860CNV Duplication20802225
    nsv471391CNV Duplication19718026
    nsv436059CNV Insertion17901297
    dgv2895n71CNV Loss21882294
    dgv485n67CNV Loss20364138
    nsv1853CNV Loss18451855
    nsv827723CNV Loss20364138
    esv1007882CNV Loss20482838

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PDPR
    DNA2.0 Custom Variant and Variant Library Synthesis for PDPR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for PDPR:    
    About MalaCards
    sarcosinemia    malaria


    PDPR for disorders           About GeneDecksing

    Genetic Association Database (GAD): PDPR
    Human Genome Epidemiology (HuGE) Navigator: PDPR (2 documents)

    Export disorders for PDPR gene to outside databases

    (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)
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    PubMed articles for PDPR gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with PDPR)
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    1. Novel association strategy with copy number variation for identifying new risk Loci of human diseases. (PubMed id 20808825)1, 4 Chen X....Kong X. (PLoS ONE 2010)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PubMed id 12056414)1, 2 Ohara O.... Koseki H. (DNA Res. 2002)
    5. Cloning, expression, and properties of the regulatory subunit of bovine pyruvate dehydrogenase phosphatase. (PubMed id 9395502)1, 3 Lawson J.E....Reed L.J. (J. Biol. Chem. 1997)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55066 HGNC: 30264 AceView: PDPR Ensembl:ENSG00000090857 euGenes: HUgn55066
    ECgene: PDPR H-InvDB: PDPR

    (According to HUGE)
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    HUGE: KIAA1990

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PDPR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PDPR gene:
    Search GeneIP for patents involving PDPR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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