PES1 Gene (Protein Coding)

Pescadillo Ribosomal Biogenesis Factor 1

GC22M030576
GIFtS:
38
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 ... See more...

Aliases for PES1 Gene

Aliases for PES1 Gene

  • Pescadillo Ribosomal Biogenesis Factor 1 2 3 5
  • Pescadillo Homolog 3 4
  • NOP7 2 3
  • PES 2 3
  • Pescadillo (Zebrafish) Homolog 1, Containing BRCT Domain 2
  • Pescadillo Homolog 1, Containing BRCT Domain (Zebrafish) 2
  • Pescadillo Homolog 1, Containing BRCT Domain 3
  • PES1 5

External Ids for PES1 Gene

Previous GeneCards Identifiers for PES1 Gene

  • GC22M027668
  • GC22M029297
  • GC22M030972
  • GC22M013934

Summaries for PES1 Gene

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 Motor Peripheral Neuropathy and Plica Syndrome. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include ribonucleoprotein complex binding.

UniProtKB/Swiss-Prot Summary for PES1 Gene

  • 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

Additional gene information for PES1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PES1 Gene

Genomics for PES1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PES1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PES1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PES1

Top Transcription factor binding sites by QIAGEN in the PES1 gene promoter:
  • AML1a
  • AP-4
  • GATA-1
  • GATA-2
  • GATA-3
  • p53
  • Pax-4a

Genomic Locations for PES1 Gene

Genomic Locations for PES1 Gene
chr22:30,576,625-30,607,083
(GRCh38/hg38)
Size:
30,459 bases
Orientation:
Minus strand
chr22:30,972,612-31,003,070
(GRCh37/hg19)
Size:
30,459 bases
Orientation:
Minus strand

Genomic View for PES1 Gene

Genes around PES1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PES1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PES1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PES1 Gene

Proteins for PES1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PES1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00541-PESC_HUMAN
    Recommended name:
    Pescadillo homolog
    Protein Accession:
    O00541
    Secondary Accessions:
    • Q6IC29

    Protein attributes for PES1 Gene

    Size:
    588 amino acids
    Molecular mass:
    68003 Da
    Quaternary structure:
    • Component of the PeBoW complex, composed of BOP1, PES1 and WDR12 (PubMed:16043514, PubMed:16738141, PubMed:17189298, PubMed:17353269). The complex is held together by BOP1, which interacts with PES1 via its N-terminal domain and with WDR12 via a high-affinity interaction between the seven-bladed beta-propeller domains of the 2 proteins. The PeBoW complex associates with the 66S pre-ribosome (By similarity). The PeBoW complex also associates with DDX27, PES1 interacts directly with DDX27 (PubMed:25825154). Interacts with IRS1 and UBTF. May interact with MAP1B (By similarity).

    Three dimensional structures from OCA and Proteopedia for PES1 Gene

    Alternative splice isoforms for PES1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PES1 Gene

Protein Expression for PES1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PES1 Gene

Other Protein References for PES1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PES1 Gene

Domains & Families for PES1 Gene

Gene Families for PES1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PES1 Gene

InterPro:
Blocks:
  • BRCT domain
  • Pescadillo, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for PES1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ96584, Homo sapiens pescadillo homolog 1, containing BRCT domain(zebrafish) (PES1), mRNA (B2RDF2_HUMAN)
  • cDNA FLJ45250 fis, clone BRHIP2008756, highly similar to Pescadillo homolog 1 (B3KXD6_HUMAN)
  • Pescadillo homolog (PESC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00541

UniProtKB/Swiss-Prot:

PESC_HUMAN :
  • Belongs to the pescadillo family.
Family:
  • Belongs to the pescadillo family.
genes like me logo Genes that share domains with PES1: view

Function for PES1 Gene

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  2. CRISPR
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Molecular function for PES1 Gene

UniProtKB/Swiss-Prot Function:
Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.
UniProtKB/Swiss-Prot Induction:
By MYC.
GENATLAS Biochemistry:
pescadillo zebrafish homolog 1,putatively expressed and involved during early embryogenesis

Phenotypes From GWAS Catalog for PES1 Gene

Gene Ontology (GO) - Molecular Function for PES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 16043514
GO:0043021 ribonucleoprotein complex binding IEA --
genes like me logo Genes that share ontologies with PES1: view
genes like me logo Genes that share phenotypes with PES1: view

Animal Models for PES1 Gene

MGI Knock Outs for PES1:
  • Pes1 Pes1<tm1b(EUCOMM)Wtsi>
  • Pes1 Pes1<tm1Sad>

Animal Model Products

CRISPR Products

miRNA for PES1 Gene

miRTarBase miRNAs that target PES1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PES1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PES1 Gene

Localization for PES1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PES1 Gene

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. {ECO:0000255 HAMAP-Rule:MF_03028}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PES1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
cytoskeleton 2
mitochondrion 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 condensed chromosome IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005730 nucleolus IEA,IDA 16738141
genes like me logo Genes that share ontologies with PES1: view

Pathways & Interactions for PES1 Gene

genes like me logo Genes that share pathways with PES1: view

Gene Ontology (GO) - Biological Process for PES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA,IMP 16738141
GO:0000466 maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP 16738141
GO:0006364 rRNA processing TAS --
GO:0007000 nucleolus organization IEA --
GO:0008283 cell proliferation IMP 16738141
genes like me logo Genes that share ontologies with PES1: view

No data available for SIGNOR curated interactions for PES1 Gene

Drugs & Compounds for PES1 Gene

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  1. Drug

(1) Additional Compounds for PES1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PES1: view

Transcripts for PES1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PES1 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PES1

Alternative Splicing Database (ASD) splice patterns (SP) for PES1 Gene

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: -
SP6: - -
SP7:
SP8: -
SP9:
SP10: -
SP11: -
SP12:

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PES1 Gene

GeneLoc Exon Structure for
PES1

Expression for PES1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PES1 Gene

mRNA expression in normal human tissues for PES1 Gene
mRNA expression by BioGPS for PES1 GenemRNA expression by GTEx for PES1 Gene

Protein differential expression in normal tissues from HIPED for PES1 Gene

This gene is overexpressed in Lung (39.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PES1 Gene



Protein tissue co-expression partners for PES1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PES1

SOURCE GeneReport for Unigene cluster for PES1 Gene:

Hs.517543

mRNA Expression by UniProt/SwissProt for PES1 Gene:

O00541-PESC_HUMAN
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.

Evidence on tissue expression from TISSUES for PES1 Gene

  • Nervous system(4.8)
  • Skin(3.9)
  • Kidney(3.3)
  • Muscle(3.3)
  • Bone(3.2)
  • Eye(2.7)
  • Blood(2.5)
  • Liver(2.4)
  • Thyroid gland(2.3)
  • Heart(2.3)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with PES1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PES1 Gene

Orthologs for PES1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PES1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PES1 30 31
  • 98.98 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PES1 31
  • 97 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PES1 30 31
  • 88.16 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PES1 30 31
  • 85.57 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pes1 30
  • 85.53 (n)
Mouse
(Mus musculus)
 Mammalia Pes1 30 17 31
  • 85.19 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PES1 31
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PES1 30 31
  • 75.96 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PES1 31
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pes1 30
  • 70.15 (n)
MGC76219 30
African clawed frog
(Xenopus laevis)
 Amphibia pes1-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii pes 30 31
  • 69.67 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4417 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG4364 30 31 32
  • 59.48 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta PESC_ANOGA 30
  • 56.75 (n)
Worm
(Caenorhabditis elegans)
 Secernentea lpd-7 30 31
  • 54.55 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AAR094W 30
  • 51.63 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes NOP7 30 31 33
  • 49.72 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D15268g 30
  • 48.9 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT5G14520 30
  • 52.95 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0699200 30
  • 53.83 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU00925 30
  • 56.99 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes ppp1 30
  • 51.18 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.12349 30
Species where no ortholog for PES1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PES1 Gene

ENSEMBL:
Gene Tree for PES1 (if available)
TreeFam:
Gene Tree for PES1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PES1: view image

Paralogs for PES1 Gene

Pseudogenes.org Pseudogenes for PES1 Gene

genes like me logo Genes that share paralogs with PES1: view

No data available for Paralogs for PES1 Gene

Variants for PES1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PES1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
717123 Benign: not provided 30,577,088(-) C/T SYNONYMOUS_VARIANT
rs11541876 - p.Asp370His
rs34123894 - p.Ala411Thr
rs42942 - p.Thr264Ser

Additional dbSNP identifiers (rs#s) for PES1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PES1 Gene

Variant ID Type Subtype PubMed ID
esv1116333 CNV insertion 17803354
nsv1110864 OTHER inversion 24896259
nsv588887 CNV loss 21841781
nsv829171 CNV loss 20364138
nsv834175 CNV gain 17160897

Variation tolerance for PES1 Gene

Residual Variation Intolerance Score: 45.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.78; 73.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PES1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PES1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PES1 Gene

Disorders for PES1 Gene

MalaCards: The human disease database

(127) MalaCards diseases for PES1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
motor peripheral neuropathy
  • hereditary motor and sensory neuropathy
plica syndrome
  • synovitis
tibial collateral ligament bursitis
plantar fasciitis
  • fasciitis, plantar
heel spur
  • calcaneal spur
- elite association - COSMIC cancer census association via MalaCards
Search PES1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PES1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PES1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PES1 Gene

Publications for PES1 Gene

  1. Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit. (PMID: 17353269) Rohrmoser M … Eick D (Molecular and cellular biology 2007) 2 3 4 23
  2. Insertional mutagenesis in zebrafish identifies two novel genes, pescadillo and dead eye, essential for embryonic development. (PMID: 8985183) Allende ML … Hopkins N (Genes & development 1996) 2 3 4 23
  3. Dominant-negative Pes1 mutants inhibit ribosomal RNA processing and cell proliferation via incorporation into the PeBoW-complex. (PMID: 16738141) Grimm T … Eick D (Nucleic acids research 2006) 3 4 23
  4. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  5. DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex. (PMID: 25825154) Kellner M … Eick D (Experimental cell research 2015) 3 4

ExternalLinks

View latest publications for PES1 gene in Mastermind

Products for PES1 Gene

  • Addgene plasmids for PES1
  • Signalway ELISA kits for PES1

Sources for PES1 Gene