PES1

Protein-coding gene in the species Homo sapiens
PES1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2EP8

Identifiers
AliasesPES1, PES, pescadillo ribosomal biogenesis factor 1, NOP7
External IDsOMIM: 605819; MGI: 1890613; HomoloGene: 5984; GeneCards: PES1; OMA:PES1 - orthologs
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for PES1
Genomic location for PES1
Band22q12.2Start30,576,625 bp[1]
End30,607,083 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for PES1
Genomic location for PES1
Band11|11 A1Start3,913,975 bp[2]
End3,930,004 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sural nerve

  • body of pancreas

  • islet of Langerhans

  • skin of leg

  • mucosa of transverse colon

  • skin of abdomen

  • left testis

  • stromal cell of endometrium

  • body of stomach

  • right testis
Top expressed in
  • interventricular septum

  • yolk sac

  • spermatocyte

  • ventricular zone

  • neural layer of retina

  • tail of embryo

  • spermatid

  • otic vesicle

  • embryo

  • epiblast
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
SpeciesHumanMouse
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 MbChr 11: 3.91 – 3.93 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000100029 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.
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