Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PES1 Gene

Aliases for PES1 Gene

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

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 pericardium disease and yellow nail syndrome. Among its related pathways are Gene Expression and rRNA processing. GO annotations related to this gene include poly(A) RNA binding and ribonucleoprotein complex binding.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PES1 Gene

Genomics for PES1 Gene

Regulatory Elements for PES1 Gene

Enhancers for PES1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PES1 on UCSC Golden Path with GeneCards custom track

Promoters for PES1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PES1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PES1 Gene

Chromosome:
22
Start:
30,576,625 bp from pter
End:
30,607,083 bp from pter
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 StructureGene Density

RefSeq DNA sequence for PES1 Gene

Proteins for PES1 Gene

  • 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

Proteomics data for PES1 Gene at MOPED

Post-translational modifications for PES1 Gene

No data available for DME Specific Peptides for PES1 Gene

Domains & Families for PES1 Gene

Protein Domains for PES1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O00541

UniProtKB/Swiss-Prot:

PESC_HUMAN :
  • Contains 1 BRCT domain.
  • Belongs to the pescadillo family.
Domain:
  • Contains 1 BRCT domain.
Family:
  • Belongs to the pescadillo family.
genes like me logo Genes that share domains with PES1: view

No data available for Gene Families for PES1 Gene

Function for PES1 Gene

Molecular function for PES1 Gene

GENATLAS Biochemistry:
pescadillo zebrafish homolog 1,putatively expressed and involved during early embryogenesis
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.

Gene Ontology (GO) - Molecular Function for PES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043021 ribonucleoprotein complex binding IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
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:

Animal Model Products

miRNA for PES1 Gene

miRTarBase miRNAs that target 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
Jensen Localization Image for PES1 Gene COMPARTMENTS Subcellular localization image for PES1 gene
Compartment Confidence
nucleus 5
cytosol 4
chloroplast 1
cytoskeleton 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005694 chromosome IEA --
GO:0016020 membrane IDA 19946888
GO:0030687 preribosome, large subunit precursor IDA 16738141
GO:0070545 PeBoW complex IDA 16043514
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

Pathways by source for PES1 Gene

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) IMP 16738141
GO:0006364 rRNA processing IMP,TAS --
GO:0007000 nucleolus organization IEA --
GO:0033365 protein localization to organelle IEA --
GO:0051726 regulation of cell cycle 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

(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

Unigene Clusters for PES1 Gene

Pescadillo ribosomal biogenesis factor 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
PES1

Expression for PES1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for PES1 Gene



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.
genes like me logo Genes that share expression patterns with PES1: view

Protein tissue co-expression partners for PES1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia PES1 35
  • 85.57 (n)
  • 85.69 (a)
PES1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PES1 35
  • 88.16 (n)
  • 90.05 (a)
PES1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pes1 35
  • 85.19 (n)
  • 89.71 (a)
Pes1 16
Pes1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PES1 35
  • 98.98 (n)
  • 99.32 (a)
PES1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pes1 35
  • 85.53 (n)
  • 89.91 (a)
oppossum
(Monodelphis domestica)
Mammalia PES1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PES1 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves PES1 35
  • 75.96 (n)
  • 74.83 (a)
PES1 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PES1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76219 35
pes1 35
  • 70.15 (n)
  • 74.22 (a)
African clawed frog
(Xenopus laevis)
Amphibia pes1-prov 35
zebrafish
(Danio rerio)
Actinopterygii pes 35
  • 69.67 (n)
  • 74 (a)
pes 36
  • 73 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4417 35
fruit fly
(Drosophila melanogaster)
Insecta CG4364 37
  • 51 (a)
CG4364 35
  • 59.48 (n)
  • 54.8 (a)
CG4364 36
  • 40 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta PESC_ANOGA 35
  • 56.75 (n)
  • 50.34 (a)
worm
(Caenorhabditis elegans)
Secernentea lpd-7 35
  • 54.55 (n)
  • 53.15 (a)
lpd-7 36
  • 44 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR094W 35
  • 51.63 (n)
  • 44.2 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D15268g 35
  • 48.9 (n)
  • 43.11 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NOP7 35
  • 49.72 (n)
  • 44.92 (a)
NOP7 36
  • 38 (a)
OneToOne
NOP7 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G14520 35
  • 52.95 (n)
  • 48.56 (a)
rice
(Oryza sativa)
Liliopsida Os03g0699200 35
  • 53.83 (n)
  • 51.36 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12349 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00925 35
  • 56.99 (n)
  • 49.88 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ppp1 35
  • 51.18 (n)
  • 50 (a)
Species with no ortholog for PES1:
  • 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 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)

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

Sequence variations from dbSNP and Humsavar for PES1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs42942 - 30,581,366(+) GTAGG(A/C/T)GCCCT reference, missense
rs11541876 - 30,580,114(-) TCACA(C/G)ACTCC reference, missense
rs34123894 - 30,579,874(+) CTCTG(C/T)CACGG reference, missense
rs2108110 -- 30,581,027(+) GGAAA(C/G/T)TCATC reference, missense
rs2286215 -- 30,591,866(+) CCGCG(A/C)GTACA intron-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv829171 CNV Loss 20364138
nsv834175 CNV Gain 17160897
esv1116333 CNV Insertion 17803354

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)

Relevant External Links for PES1 Gene

HapMap Linkage Disequilibrium report
PES1

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

Disorders for PES1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pericardium disease
yellow nail syndrome
  • lymphedema with yellow nails
dysgraphia
  • agraphia
- elite association - COSMIC cancer census association via MalaCards
Search PES1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PES1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PES1
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. (Mol. Cell. Biol. 2007) 2 3 4 23 67
  2. Insertional mutagenesis in zebrafish identifies two novel genes, pescadillo and dead eye, essential for embryonic development. (PMID: 8985183) Allende M.L. … Hopkins N. (Genes Dev. 1996) 2 3 23
  3. B23 interacts with PES1 and is involved in nucleolar localization of PES1. (PMID: 20011973) Zhang J. … Wu J. (Acta Biochim. Biophys. Sin. (Shanghai) 2009) 3 23
  4. 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 Res. 2006) 3 23
  5. Role of pescadillo in the transformation and immortalization of mammalian cells. (PMID: 15273728) Maiorana A. … Baserga R. (Oncogene 2004) 3 23

Products for PES1 Gene

Sources for PES1 Gene

Content