PES1

PES1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2EP8
Identifiers
Aliases	PES1 , PES, pescadillo ribosomal biogenesis factor 1, NOP7
External IDs	OMIM: 605819 MGI: 1890613 HomoloGene: 5984 GeneCards: PES1
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q12.2 Start 30,576,625 bp [1] End 30,607,083 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 A1 Start 3,913,975 bp [2] End 3,930,004 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve body of pancreas islet of Langerhans skin of abdomen stromal cell of endometrium body of stomach left adrenal gland right adrenal gland left uterine tube right lobe of thyroid gland Top expressed in interventricular septum yolk sac spermatocyte spermatid lip otic placode saccule visual cortex morula ankle joint More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding RNA binding ribonucleoprotein complex binding Cellular component membrane PeBoW complex chromosome nucleolus condensed chromosome nucleus nucleoplasm cytosol preribosome, large subunit precursor Biological process protein localization to organelle ribosome biogenesis regulation of cell cycle nucleolus organization maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) cell population proliferation rRNA processing maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) ribosomal large subunit biogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23481 64934 Ensembl ENSG00000100029 ENSMUSG00000020430 UniProt O00541 Q9EQ61 RefSeq (mRNA) NM_001243225 NM_001282327 NM_001282328 NM_014303 NM_022889 RefSeq (protein) NP_001230154 NP_001269256 NP_001269257 NP_055118 NP_075027 Location (UCSC) Chr 22: 30.58 – 30.61 Mb Chr 11: 3.91 – 3.93 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Pescadillo homolog is a protein that in humans is encoded by the PES1 gene. ^{[5] [6] [7] [8]}

This gene encodes a protein that is abnormally elevated in malignant tumors of astrocytic origin. It is a strongly conserved gene containing a BRCT domain that is essential for the activity of this gene product. The gene plays a crucial role in cell proliferation and may be necessary for oncogenic transformation and tumor progression. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000100029 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020430 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Allende ML, Amsterdam A, Becker T, Kawakami K, Gaiano N, Hopkins N (Jan 1997). "Insertional mutagenesis in zebrafish identifies two novel genes, pescadillo and dead eye, essential for embryonic development". Genes Dev. 10 (24): 3141–55. doi: 10.1101/gad.10.24.3141 . PMID   8985183.
6. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al. (Dec 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi: 10.1038/990031 . PMID   10591208.
7. Rohrmoser M, Holzel M, Grimm T, Malamoussi A, Harasim T, Orban M, Pfisterer I, Gruber-Eber A, Kremmer E, Eick D (May 2007). "Interdependence of Pes1, Bop1, and WDR12 Controls Nucleolar Localization and Assembly of the PeBoW Complex Required for Maturation of the 60S Ribosomal Subunit". Mol Cell Biol. 27 (10): 3682–94. doi:10.1128/MCB.00172-07. PMC   1899993 . PMID   17353269.
8. "Entrez Gene: PES1 pescadillo homolog 1, containing BRCT domain (zebrafish)".

Further reading

• Sanger Centre T, Washington University Genome Sequencing Cente T (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi: 10.1101/gr.8.11.1097 . PMID   9847074.
• Kinoshita Y, Jarell AD, Flaman JM, et al. (2001). "Pescadillo, a novel cell cycle regulatory protein abnormally expressed in malignant cells". J. Biol. Chem. 276 (9): 6656–65. doi: 10.1074/jbc.M008536200 . PMID   11071894.
• Andersen JS, Lyon CE, Fox AH, et al. (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. Bibcode:2002CBio...12....1A. doi: 10.1016/S0960-9822(01)00650-9 . PMID   11790298.
• Oeffinger M, Leung A, Lamond A, et al. (2002). "Yeast Pescadillo is required for multiple activities during 60S ribosomal subunit synthesis". RNA. 8 (5): 626–36. doi:10.1017/S1355838202020022. PMC   1370283 . PMID   12022229.
• Scherl A, Couté Y, Déon C, et al. (2003). "Functional Proteomic Analysis of Human Nucleolus". Mol. Biol. Cell. 13 (11): 4100–9. doi:10.1091/mbc.E02-05-0271. PMC   133617 . PMID   12429849.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Lapik YR, Fernandes CJ, Lau LF, Pestov DG (2004). "Physical and functional interaction between Pes1 and Bop1 in mammalian ribosome biogenesis". Mol. Cell. 15 (1): 17–29. doi: 10.1016/j.molcel.2004.05.020 . PMID   15225545.
• Maiorana A, Tu X, Cheng G, Baserga R (2004). "Role of pescadillo in the transformation and immortalization of mammalian cells". Oncogene. 23 (42): 7116–24. doi: 10.1038/sj.onc.1207916 . PMID   15273728.
• Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi: 10.1186/gb-2004-5-10-r84 . PMC   545604 . PMID   15461802.
• Killian A, Le Meur N, Sesboüé R, et al. (2004). "Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability". Oncogene. 23 (53): 8597–602. doi:10.1038/sj.onc.1207845. PMID   15467761. S2CID   7435460.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID   15635413. S2CID   4344740.
• Hölzel M, Rohrmoser M, Schlee M, et al. (2005). "Mammalian WDR12 is a novel member of the Pes1–Bop1 complex and is required for ribosome biogenesis and cell proliferation". J. Cell Biol. 170 (3): 367–78. doi:10.1083/jcb.200501141. PMC   2171466 . PMID   16043514.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.