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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PDPR Gene

protein-coding   GIFtS: 52
GCID: GC16P070148

Pyruvate Dehydrogenase Phosphatase Regulatory Subunit

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for PDPR Gene: 
PDPR (pyruvate dehydrogenase phosphatase regulatory subunit) is a protein-coding gene. Diseases associated with PDPR include sarcosinemia, and among its related super-pathways are Pyruvate metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PDPR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Mitochondrion matrix (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NCN5

  • PDPR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PDPR Protein Expression
    REFSEQ proteins: NP_060460.4  
    ENSEMBL proteins: 
     ENSP00000288050   ENSP00000381190   ENSP00000457916   ENSP00000455764   ENSP00000457636  
     ENSP00000457961   ENSP00000456959   ENSP00000456385   ENSP00000457484   ENSP00000441690  
    Reactome Protein details: Q8NCN5
    Human Recombinant Protein Products for PDPR: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PDPR 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    PDPR for ontologies           About GeneDecksing



    PDPR Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PDPR 

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    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)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for PDPR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    8/50 QIAGEN miScript miRNA 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:
        
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                         Customized lentivirus expression plasmids for stable overexpression of PDPR 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDPR


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PDPR About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Pyruvate metabolism
    Pyruvate metabolism0.60
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Regulation of pyruvate dehydrogenase (PDH) complex0.60
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    3Metabolism
    Metabolism0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for PDPR
        Pyruvate metabolism
    Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    The citric acid (TCA) cycle and respiratory electron transport
    Regulation of pyruvate dehydrogenase (PDH) complex



    PDPR for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PDPR

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for PDPR (Q8NCN53 ENSP000002880504) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCAM2O153943I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about PDPR

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PDPR gene: 
    NM_017990.3  

    Unigene Cluster for PDPR:

    Pyruvate dehydrogenase phosphatase regulatory subunit
    Hs.744043  [show with all ESTs]
    Unigene Representative Sequence: BC150251
    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
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    8/50 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PDPR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PDPR
    Clone
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    OriGene ORF clones in mouse, rat for PDPR
    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
    Sirion Biotech Customized lentivirus for stable overexpression of PDPR 
                         Customized lentivirus expression plasmids for stable overexpression of PDPR 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PDPR
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PDPR
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PDPR
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PDPR

    Additional mRNA sequence: 

    AB082521.1 AK000941.2 AK024608.1 AK093391.1 AK292502.1 AK302987.1 AK316384.1 AL117440.1 
    BC006246.2 BC032327.1 BC090941.1 BC150251.1 BX537614.1 BX538042.1 BX538153.1 CR627404.1 

    21 DOTS entries:

    DT.430039  DT.97804760  DT.97784818  DT.40193051  DT.97799495  DT.100790955  DT.101984112  DT.100740236 
    DT.99959666  DT.120684610  DT.120684653  DT.92423969  DT.95343537  DT.97763457  DT.120684458  DT.444118 
    DT.91785116  DT.95113707  DT.121610089  DT.92035136  DT.95182611 

    24/249 AceView cDNA sequences (see all 249):

    AA676473 AA780940 AW770111 AB082521 CA748976 BM714580 AA469058 BX279542 
    CR592755 Z45314 BQ477854 BX537614 CA426021 BM675345 F04207 AI200997 
    AA381324 T30853 AA883338 CB960913 BU624724 CA424902 BM977808 BM857491 

    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™, 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

    PDPR expression in normal human tissues (normalized intensities)      PDPR embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Skeletal Muscle (Muscoskeletal System)
             gastrocnemius   
     
     Testis (Reproductive System)
             sperm   
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Heart (Cardiovascular System)

    See PDPR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDPR

    SOURCE GeneReport for Unigene cluster: Hs.744043
        SABiosciences Expression via Pathway-Focused PCR Array including PDPR: 
              Glucose Metabolism in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PDPR
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PDPR gene from 7/14 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_414050.3  XP_414050.2 
    lizard
    (Anolis carolinensis)
    Reptilia PDPR6
    Uncharacterized protein
    85(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 53.46(n)
    44.69(a)
      31377  NM_131934.1  NP_572162.2 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y106G6H.51 Protein Y106G6H.5 47.17(n)
    38.7(a)
      172922  NM_060329.3  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)
    About This Section
    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) 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

    10/1277 SNPs in PDPR are shown (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) 10/44 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

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    (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.)
    About This Section
    2 diseases for PDPR:    About MalaCards
    sarcosinemia    


    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)
    About This Section

    PubMed articles for PDPR gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with PDPR)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (2010)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (1997)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55066 HGNC: 30264 AceView: PDPR Ensembl:ENSG00000090857 euGenes: HUgn55066
    ECgene: PDPR H-InvDB: PDPR

    (According to HUGE)
    About This Section
    HUGE: KIAA1990

    (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
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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