Human Gene PES1 (ENST00000335214.8) from GENCODE V44
Description: Homo sapiens pescadillo ribosomal biogenesis factor 1 (PES1), transcript variant 3, mRNA. (from RefSeq NM_001243225) RefSeq Summary (NM_001243225): 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]. Gencode Transcript: ENST00000335214.8 Gencode Gene: ENSG00000100029.18 Transcript (Including UTRs) Position: hg38 chr22:30,576,835-30,591,858 Size: 15,024 Total Exon Count: 15 Strand: - Coding Region Position: hg38 chr22:30,577,046-30,591,833 Size: 14,788 Coding Exon Count: 15
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.
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.
ModBase Predicted Comparative 3D Structure on O00541
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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.