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PES1 Gene

protein-coding   GIFtS: 57
GCID: GC22M030972

Pescadillo Ribosomal Biogenesis Factor 1

(Previous names: pescadillo (zebrafish) homolog 1, containing BRCT domain,...)
  See PES1-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)
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Aliases
Pescadillo Ribosomal Biogenesis Factor 11 2
PES2 5
Pescadillo (Zebrafish) Homolog 1, Containing BRCT Domain1
Pescadillo Homolog 1, Containing BRCT Domain (Zebrafish)1
Pescadillo Homolog2
Pescadillo Homolog 1, Containing BRCT Domain2

External Ids:    HGNC: 88481   Entrez Gene: 234812   Ensembl: ENSG000001000297   OMIM: 6058195   UniProtKB: O005413   

Export aliases for PES1 gene to outside databases

Previous GC identifers: GC22M027668 GC22M029297 GC22M013934


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PES1 Gene:
This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction
domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role
in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may
play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript
variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the
long arm of chromosome 4 and the short arm of chromosome 9. (provided by RefSeq, Aug 2011)

GeneCards Summary for PES1 Gene:
PES1 (pescadillo ribosomal biogenesis factor 1) is a protein-coding gene. Diseases associated with PES1 include breast cancer.

UniProtKB/Swiss-Prot: PESC_HUMAN, O00541
Function: Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and
formation of the 60S ribosome

Gene Wiki entry for PES1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PES1 gene promoter:
         AML1a   GATA-3   p53   AP-4   Pax-4a   GATA-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPES1 promoter sequence
   Search Chromatin IP Primers for PES1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PES1


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

Entrez Gene cytogenetic band: 22q12.1   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.1

PES1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PES1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M030972:  view genomic region     (about GC identifiers)

Start:
30,972,612 bp from pter      End:
31,003,070 bp from pter
Size:
30,459 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PESC_HUMAN, O00541 (See protein sequence)
Recommended Name: Pescadillo homolog  
Size: 588 amino acids; 68003 Da
Subunit: Interacts with IRS1 and UBTF. May interact with MAP1B (By similarity). Component of the PeBoW complex,
composed of BOP1, PES1 and WDR12. Within the PeBoW complex BOP1 interacts directly with PES1 and WDR12. The PeBoW
complex also associates with the 66S pre-ribosome
1 PDB 3D structure from and Proteopedia for PES1:
2EP8 (3D)    
Secondary accessions: Q6IC29
Alternative splicing: 2 isoforms:  O00541-1   O00541-2   

Explore the universe of human proteins at neXtProt for PES1: NX_O00541

Explore proteomics data for PES1 at MOPED

Post-translational modifications: 

  • Sumoylated1
  • Ubiquitination2 at Lys68, Lys81, Lys331, Lys441, Lys533
  • Modification sites at PhosphoSitePlus

  • See PES1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001230154.1  NP_001269256.1  NP_001269257.1  NP_055118.1  

    ENSEMBL proteins: 
     ENSP00000346725   ENSP00000384366   ENSP00000404234   ENSP00000385654   ENSP00000384252  
     ENSP00000334612   ENSP00000384777  

    PES1 Human Recombinant Protein Products:

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    Novus Biologicals PES1 Proteins
    Novus Biologicals PES1 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PES1

     
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    antibodies-online proteins for PES1 (6 products) 

     
    antibodies-online peptides for PES1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR010613 PES
     IPR001357 BRCT_dom

    Graphical View of Domain Structure for InterPro Entry O00541

    ProtoNet protein and cluster: O00541

    2 Blocks protein domains:
    IPB001357 BRCT domain
    IPB010613 Pescadillo


    UniProtKB/Swiss-Prot: PESC_HUMAN, O00541
    Similarity: Belongs to the pescadillo family
    Similarity: Contains 1 BRCT domain


    Find genes that share domains with PES1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PESC_HUMAN, O00541
    Function: Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and
    formation of the 60S ribosome
    Induction: By MYC

         Genatlas biochemistry entry for PES1:
    pescadillo zebrafish homolog 1,putatively expressed and involved during early embryogenesis

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16043514
    GO:0043021ribonucleoprotein complex binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with PES1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PES1:
     Decreased TP53 protein express  Decreased viability of wild-ty 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pes1):
     embryogenesis  mortality/aging 

    Find genes that share phenotypes with PES1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pes1tm1Sad for PES1

       genOway: Develop your customized and physiologically relevant rodent model for PES1

    miRNA
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    miRTarBase miRNAs that target PES1:
    hsa-let-7e-5p (MIRT051556), hsa-mir-124-3p (MIRT022851), hsa-mir-30a-5p (MIRT028562)

    Block miRNA regulation of human, mouse, rat PES1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate PES1:
    hsa-miR-3176 hsa-miR-3922-3p
    SwitchGear 3'UTR luciferase reporter plasmidPES1 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for PES1 

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    (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
    PESC_HUMAN, O00541: Nucleus, nucleolus. Nucleus, nucleoplasm. Chromosome. Note=Appears to localize to the
    periphery of metaphase chromosomes during mitosis and to the prenucleolar bodies that form in mitotic cells prior
    to the actual nucleoli (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000793condensed chromosome IEA--
    GO:0005634nucleus ----
    GO:0005654nucleoplasm IDA16738141
    GO:0005694chromosome ----
    GO:0005730nucleolus IDA--

    Find genes that share ontologies with PES1           About GenesLikeMe


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including PES1: 
              Prostate Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PES1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PES1 (O005411, 3 ENSP000003467254) via UniProtKB, MINT, STRING, and/or I2D (see all 380)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000463maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP16738141
    GO:0000466maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP16738141
    GO:0006364rRNA processing IMP16738141
    GO:0007000nucleolus organization IEA--
    GO:0008283cell proliferation NAS16043514

    Find genes that share ontologies with PES1           About GenesLikeMe



    (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 PES1 (PESC)

    1 Novoseek inferred chemical compound relationship for PES1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    12-o-tetradecanoylphorbol 13-acetate 53.9 1 7559624 (1)



    Find genes that share compounds with PES1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PES1 gene (4 alternative transcripts): 
    NM_001243225.1  NM_001282327.1  NM_001282328.1  NM_014303.3  

    Unigene Cluster for PES1:

    Pescadillo ribosomal biogenesis factor 1
    Hs.517543  [show with all ESTs]
    Unigene Representative Sequence: NR_036550
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354694(uc003aik.2 uc003aij.2) ENST00000402281(uc003aio.1)
    ENST00000441668 ENST00000405677(uc003ain.1) ENST00000488719 ENST00000402284
    ENST00000335214 ENST00000406208 ENST00000477762 ENST00000433575 ENST00000466614
    ENST00000467368 ENST00000492986
    miRNA
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    Block miRNA regulation of human, mouse, rat PES1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate PES1:
    hsa-miR-3176 hsa-miR-3922-3p
    SwitchGear 3'UTR luciferase reporter plasmidPES1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PES1
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PES1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PES1
    Addgene plasmids for PES1 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PES1
      QuantiTect SYBR Green Assays in human, mouse, rat PES1
      QuantiFast Probe-based Assays in human, mouse, rat PES1

    Additional mRNA sequence: 

    AB451380.1 AK096320.1 AK127185.1 AK315518.1 BC032489.1 CR456539.1 NR_036550.2 U78310.1 

    Selected DOTS entries (see all 31):

    DT.215330  DT.91815865  DT.100882210  DT.100882213  DT.100686738  DT.92445826  DT.100882199  DT.100882223 
    DT.91829780  DT.100882211  DT.100767926  DT.100882197  DT.100882198  DT.100882200  DT.100882230  DT.100659512 
    DT.100718140  DT.100764377  DT.100800437  DT.100882205  DT.100882207  DT.100882218  DT.100882221  DT.100882222 

    Selected AceView cDNA sequences (see all 459):

    BU553927 H00106 AU121840 BG291005 R39063 D78819 BI871638 BP365059 
    BM461423 BX410917 NM_014303 AA355498 AU098520 BU193463 BX424789 BP364788 
    BM464224 BQ050770 BQ220153 BM792234 BM793754 CA454785 AI471202 CR620678 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PES1 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^
    SP1:                                                        -                                                     -                                             
    SP2:                                                        -                                               -     -                                             
    SP3:                                                                                                              -                                             
    SP4:                                                                                                              -                                             
    SP5:                                                                                                              -                                             

    ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for PES1

    (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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    PES1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGTGCAGAG
    PES1 Expression
    About this image

    PES1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PES1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517543

    UniProtKB/Swiss-Prot: PESC_HUMAN, O00541
    Tissue specificity: Significant levels are detected in a variety of cancer cell lines, including glioblastoma,
    breast carcinoma, colon carcinoma and cervical carcinoma cells. Levels are abnormally elevated in malignant
    tumors of astrocytic origin

        Pathway & Disease-focused RT2 Profiler PCR Array including PES1: 
              Prostate Cancer in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat PES1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PES1

    (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 eukaryotes.

    Orthologs for PES1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pes11 , 5 pescadillo homolog 1, containing BRCT domain (zebrafish)1, 5 85.19(n)1
    89.71(a)1
      11 (2.79 cM)5
    649341  NM_022889.31  NP_075027.11 
     39639755 
    chicken
    (Gallus gallus)
    Aves PES11 pescadillo ribosomal biogenesis factor 1 75.96(n)
    74.83(a)
      770808  XM_001234132.3  XP_001234133.3 
    lizard
    (Anolis carolinensis)
    Reptilia PES16
    pescadillo ribosomal biogenesis factor 1
    76(a)
    1 ↔ 1
    GL343417.1(175637-182828)
    African clawed frog
    (Xenopus laevis)
    Amphibia pes1-prov2 pescadillo 76(n)    BC043950.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pes2 pescadillo 76.27(n)   30228  U77627.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG43641 , 3 CG43641 51(a)3
    59.48(n)1
    54.8(a)1
      342871  NM_135461.41  NP_609305.11 
    worm
    (Caenorhabditis elegans)
    Secernentea lpd-71 lpd-7 54.55(n)
    53.15(a)
      176072  NM_066260.3  NP_498661.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NOP7(YGR103W)4
    NOP71
    Component of several different pre-ribosomal particles; more4
    NOP71
    49.72(n)1
    44.92(a)1
      7(695417-697234)4
    8529951, 4  NP_011617.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G145201 AT5G14520 52.95(n)
    48.56(a)
      831303  NM_121456.3  NP_196956.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g06992001 Os03g0699200 53.83(n)
    51.36(a)
      4333814  NM_001057521.1  NP_001050986.1 


    ENSEMBL Gene Tree for PES1 (if available)
    TreeFam Gene Tree for PES1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PES1 gene

    Find genes that share paralogs with PES1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for PES1
    PGOHUM00000246083 PGOHUM00000236388


    (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 PES1 (see all 824)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105774981,2
    C--13953571(+) aaaaa-/A/    
       AAAAA
    GATCT
    1 -- int11NA 2
    rs119125461,2
    C,H--30972159(+) TCACCA/GCAGAC 3 -- ds50010--------
    rs1180900401,2
    F--30972356(+) AACTGA/TCACAT 3 -- ds50011Minor allele frequency- T:0.02NA 120
    rs119126601,2
    C,F,H--30972409(+) AACCAT/CGGTCA 3 -- ds500112Minor allele frequency- C:0.08NS NA WA 1710
    rs1855741921,2
    --30972443(+) AGAACC/TTCTGC 3 -- ds50010--------
    rs1900886301,2
    --30972611(+) ACAAAA/CTGCAA 3 -- ds50010--------
    rs1389397141,2
    --30972692(+) ATCACA/GGGTCC 3 -- nc-transcript-variantut310--------
    rs1818883901,2
    --30972848(+) GCAGGA/GCAGCT 3 -- nc-transcript-variantut310--------
    rs96210331,2
    C,F--30972927(+) GAAAGG/CAGGAG 3 -- nc-transcript-variantut31 trp31Minor allele frequency- C:0.03NA 120
    rs23019541,2
    C,F--30973025(+) GGGCCG/ACAGGC 3 -- nc-transcript-variantut31 ese35Minor allele frequency- A:0.12EA CSA WA EU 2872

    HapMap Linkage Disequilibrium report for PES1 (30972612 - 31003070 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PES1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1116333CNV Insertion17803354
    nsv829171CNV Loss20364138
    nsv834175CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PES1
    DNA2.0 Custom Variant and Variant Library Synthesis for PES1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605819    OMIM disorders: --

    1 disease for PES1:    
    About MalaCards
    breast cancer


    Find genes that share disorders with PES1           About GenesLikeMe


    Export disorders for PES1 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 PES1 gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with PES1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit. (PubMed id 17353269)1, 2, 3, 9 Rohrmoser M.... Eick D. (Mol. Cell. Biol. 2007)
    2. Insertional mutagenesis in zebrafish identifies two novel genes, pescadillo and dead eye, essential for embryonic development. (PubMed id 8985183)1, 2, 3, 9 Allende M.L....Hopkins N. (Genes Dev. 1996)
    3. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I.... Wright H. (Nature 1999)
    4. Dominant-negative Pes1 mutants inhibit ribosomal RNA processing and cell proliferation via incorporation into the PeBoW-complex. (PubMed id 16738141)1, 2, 9 Grimm T.... Eick D. (Nucleic Acids Res. 2006)
    5. Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation. (PubMed id 16043514)1, 2 Hoelzel M.... Eick D. (J. Cell Biol. 2005)
    6. 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. (Genome Res. 2004)
    7. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    8. Yeast Pescadillo is required for multiple activities during 60S ribosomal subunit synthesis. (PubMed id 12022229)1, 2 Oeffinger M.... Tollervey D. (RNA 2002)
    9. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (Mol. Biol. Cell 2002)
    10. Pescadillo, a novel cell cycle regulatory protein abnormally expressed in malignant cells. (PubMed id 11071894)1, 2 Kinoshita Y.... Morrison R.S. (J. Biol. Chem. 2001)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 23481 HGNC: 8848 AceView: PES1 Ensembl:ENSG00000100029 euGenes: HUgn23481
    ECgene: PES1 H-InvDB: PES1

    (According to HUGE)
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      --

    (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 PES1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PES1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PES1 gene:
    Search GeneIP for patents involving PES1

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



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