EXOSC10
Description
The EXOSC10 (exosome component 10) is a protein-coding gene located on chromosome 1.
Exosome component 10, also known as EXOSC10, is a human gene. Its protein product (sometimes called PM/Scl-100) is part of the exosome complex and is an autoantigen in patients with certain autoimmune diseases, most notably scleromyositis.
EXOSC10 is a catalytic component of the RNA exosome complex, possessing 3'-to-5' exoribonuclease activity. It participates in various cellular RNA processing and degradation events. In the nucleus, it contributes to the proper maturation of stable RNA species (rRNA, snRNA, snoRNA) and eliminates RNA processing by-products, non-coding transcripts, and mRNAs with processing defects, limiting their export to the cytoplasm. It is a part of the small subunit (SSU) processome, the initial precursor of the small eukaryotic ribosomal subunit. During SSU processome assembly in the nucleolus, numerous ribosome biogenesis factors, an RNA chaperone, and ribosomal proteins associate with the nascent pre-rRNA, working together to achieve RNA folding, modifications, rearrangements, cleavage, and targeted degradation of pre-ribosomal RNA by the RNA exosome. The RNA exosome may play a role in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by directing AICDA deamination activity towards transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover, specifically degrading unstable mRNAs containing AU-rich elements (AREs) in their 3' untranslated regions, and participating in RNA surveillance pathways to prevent the translation of aberrant mRNAs. It appears to be involved in histone mRNA degradation. EXOSC10 is essential for the nucleolar localization of C1D and likely mediates the association of MTREX, C1D, and MPHOSPH6 with the RNA exosome, which is involved in 5.8S rRNA maturation. It contributes to the recruitment of replication protein A complex (RPA) and RAD51 to DNA double-strand breaks caused by irradiation, facilitating DNA repair via homologous recombination. It regulates the levels of damage-induced RNAs to prevent DNA-RNA hybrid formation at DNA double-strand breaks and limit DNA end resection following damage. It plays a role in oocyte development, maturation, and survival. It is required for normal testis development and mitotic division of spermatogonia. It contributes to proper embryo development. It is required for global protein translation and cell proliferation. It regulates the metabolism of C9orf72-derived repeat RNA that can be translated into toxic dipeptide repeat proteins.
EXOSC10 is also known as PM-Scl, PM/Scl-100, PMSCL, PMSCL2, RRP6, Rrp6p, p2, p3, p4.
