Human Gene PES1 (ENST00000354694.12_10) from GENCODE V47lift37
  Description: pescadillo ribosomal biogenesis factor 1, transcript variant 1 (from RefSeq NM_014303.4)
Gencode Transcript: ENST00000354694.12_10
Gencode Gene: ENSG00000100029.18_15
Transcript (Including UTRs)
   Position: hg19 chr22:30,972,612-30,987,897 Size: 15,286 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr22:30,973,033-30,987,820 Size: 14,788 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:30,972,612-30,987,897)mRNA (may differ from genome)Protein (588 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PESC_HUMAN
DESCRIPTION: RecName: Full=Pescadillo homolog;
FUNCTION: Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.
SUBUNIT: Interacts with IRS1 and UBTF. May interact with MAP1B (By similarity). Component of the PeBoW complex, composed of BOP1, PES1 and WDR12. Within the PeBoW complex BOP1 interacts directly with PES1 and WDR12. The PeBoW complex also associates with the 66S pre-ribosome.
INTERACTION: Q14137:BOP1; NbExp=3; IntAct=EBI-1053271, EBI-1050828;
SUBCELLULAR LOCATION: 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 (By similarity).
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.
INDUCTION: By MYC.
PTM: Sumoylated.
SIMILARITY: Belongs to the pescadillo family.
SIMILARITY: Contains 1 BRCT domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PES1
Diseases sorted by gene-association score: pericardium disease (2), yellow nail syndrome (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.09 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 770.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.3077-0.497 Picture PostScript Text
3' UTR -181.90421-0.432 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001357 - BRCT_dom
IPR010613 - Pescadillo

Pfam Domains:
PF06732 - Pescadillo N-terminus
PF16589 - BRCT domain, a BRCA1 C-terminus domain

SCOP Domains:
52113 - BRCT domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2EP8 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O00541
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
GO:0000466 maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
GO:0006364 rRNA processing
GO:0007000 nucleolus organization
GO:0008283 cell proliferation
GO:0033365 protein localization to organelle
GO:0042254 ribosome biogenesis
GO:0042273 ribosomal large subunit biogenesis
GO:0051726 regulation of cell cycle

Cellular Component:
GO:0000793 condensed chromosome
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0016020 membrane
GO:0030687 preribosome, large subunit precursor
GO:0070545 PeBoW complex


-  Descriptions from all associated GenBank mRNAs
  AK127185 - Homo sapiens cDNA FLJ45250 fis, clone BRHIP2008756, highly similar to Pescadillo homolog 1.
BC032489 - Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish), mRNA (cDNA clone MGC:40305 IMAGE:5416478), complete cds.
AK096320 - Homo sapiens cDNA FLJ39001 fis, clone NT2RI2022584, highly similar to Pescadillo homolog 1.
AK125778 - Homo sapiens cDNA FLJ43790 fis, clone TESTI2053399, moderately similar to Homo sapiens pescadillo 1, containing BRCT domain (zebrafish) (PES1).
U78310 - Homo sapiens pescadillo mRNA, complete cds.
JD281688 - Sequence 262712 from Patent EP1572962.
JD411615 - Sequence 392639 from Patent EP1572962.
JD130374 - Sequence 111398 from Patent EP1572962.
JD266402 - Sequence 247426 from Patent EP1572962.
JD264045 - Sequence 245069 from Patent EP1572962.
JD423589 - Sequence 404613 from Patent EP1572962.
JD259565 - Sequence 240589 from Patent EP1572962.
JD270442 - Sequence 251466 from Patent EP1572962.
JD270441 - Sequence 251465 from Patent EP1572962.
CR456539 - Homo sapiens PES1 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.PES1).
JD390440 - Sequence 371464 from Patent EP1572962.
JD390439 - Sequence 371463 from Patent EP1572962.
JD133867 - Sequence 114891 from Patent EP1572962.
JD326701 - Sequence 307725 from Patent EP1572962.
JD492359 - Sequence 473383 from Patent EP1572962.
JD346306 - Sequence 327330 from Patent EP1572962.
JD497025 - Sequence 478049 from Patent EP1572962.
JD090526 - Sequence 71550 from Patent EP1572962.
JD187689 - Sequence 168713 from Patent EP1572962.
JD098624 - Sequence 79648 from Patent EP1572962.
CU013139 - Homo sapiens PES1, mRNA (cDNA clone IMAGE:100000492), complete cds, with stop codon, in Gateway system.
AK315518 - Homo sapiens cDNA, FLJ96584, Homo sapiens pescadillo homolog 1, containing BRCT domain(zebrafish) (PES1), mRNA.
KJ893383 - Synthetic construct Homo sapiens clone ccsbBroadEn_02777 PES1 gene, encodes complete protein.
AB385086 - Synthetic construct DNA, clone: pF1KB5343, Homo sapiens PES1 gene for pescadillo homolog 1, complete cds, without stop codon, in Flexi system.
AB451380 - Homo sapiens PES1 mRNA for pescadillo homolog 1, partial cds, clone: FLJ08068AAAF.
CU013427 - Homo sapiens PES1, mRNA (cDNA clone IMAGE:100000396), complete cds, without stop codon, in Gateway system.
CU689394 - Synthetic construct Homo sapiens gateway clone IMAGE:100019914 5' read PES1 mRNA.
JD026788 - Sequence 7812 from Patent EP1572962.
JD470762 - Sequence 451786 from Patent EP1572962.
JD483061 - Sequence 464085 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O00541 (Reactome details) participates in the following event(s):

R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-72312 rRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000354694.1, ENST00000354694.10, ENST00000354694.11, ENST00000354694.2, ENST00000354694.3, ENST00000354694.4, ENST00000354694.5, ENST00000354694.6, ENST00000354694.7, ENST00000354694.8, ENST00000354694.9, NM_014303, O00541, PES1 , PESC_HUMAN, Q6IC29, uc317ytk.1, uc317ytk.2
UCSC ID: ENST00000354694.12_10
RefSeq Accession: NM_014303.4
Protein: O00541 (aka PESC_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.