• Gene id: 23481

Gene Summary

• Gene Symbol: PES1   Gene   UCSC   Ensembl
• Aliases: NOP7, PES
• Gene name: pescadillo ribosomal biogenesis factor 1
• Alternate names: pescadillo homolog, pescadillo homolog 1, containing BRCT domain,
• Gene location: 22q12.2 (30607012: 30576624)     Exons: 19     NC_000022.11
• Gene summary(Entrez): 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 p
• OMIM: 156100

Protein Summary

• Protein general information: O00541  
  • Name: Pescadillo homolog
  • Length: 588  
  • Mass: 68003
  • 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.
• Sequence:

  MGGLEKKKYERGSATNYITRNKARKKLQLSLADFRRLCILKGIYPHEPKHKKKVNKGSTAARTFYLIKDIRFLLH
  EPIVNKFREYKVFVRKLRKAYGKSEWNTVERLKDNKPNYKLDHIIKERYPTFIDALRDLDDALSMCFLFSTFPRT
  GKCHVQTIQLCRRLTVEFMHYIIAARALRKVFLSIKGIYYQAEVLGQPIVWITPYAFSHDHPTDVDYRVMATFTE
  FYTTLLGFVNFRLYQLLNLHYPPKLEGQAQAEAKAGEGTYALDSESCMEKLAALSASLARVVVPATEEEAEVDEF
  PTDGEMSAQEEDRRKELEAQEKHKKLFEGLKFFLNREVPREALAFIIRSFGGEVSWDKSLCIGATYDVTDSRITH
  QIVDRPGQQTSVIGRCYVQPQWVFDSVNARLLLPVAEYFSGVQLPPHLSPFVTEKEGDYVPPEKLKLLALQRGED
  PGNLNESEEEEEEDDNNEGDGDEEGENEEEEEDAEAGSEKEEEARLAALEEQRMEGKKPRVMAGTLKLEDKQRLA
  QEEESEAKRLAIMMMKKREKYLYQKIMFGKRRKIREANKLAEKRKAHDEAVRSEKKAKKARPE

• Structural information:
  • Protein Domains: (322..41-)
    (/note="BRCT-)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03028"-)
  • Interpro: IPR001357  IPR036420  IPR010613  
  • Prosite: PS50172
  • PDB: 2EP8
  • PDBsum: 2EP8
  • STRING: ENSP00000346725
• Other Databases: GeneCards:  PES1  Malacards:  PES1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0070545	PeBoW complex	IBA	cellular component
GO:0030687	preribosome, large subunit precursor	IDA	cellular component
GO:0070545	PeBoW complex	IDA	cellular component
GO:0070545	PeBoW complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0008283	cell population proliferation	IMP	biological process
GO:0006364	rRNA processing	IMP	biological process
GO:0006364	rRNA processing	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0007000	nucleolus organization	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0070545	PeBoW complex	IEA	cellular component
GO:0033365	protein localization to organelle	IEA	biological process
GO:0006364	rRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000793	condensed chromosome	IEA	cellular component
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042273	ribosomal large subunit biogenesis	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0030687	preribosome, large subunit precursor	IEA	cellular component
GO:0000466	maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA	biological process
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0043021	ribonucleoprotein complex binding	IEA	molecular function
GO:0042273	ribosomal large subunit biogenesis	IC	biological process
GO:0042273	ribosomal large subunit biogenesis	IC	biological process
GO:0070545	PeBoW complex	IDA	cellular component
GO:0030687	preribosome, large subunit precursor	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP	biological process
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP	biological process
GO:0051726	regulation of cell cycle	IMP	biological process
GO:0000466	maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP	biological process
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881