DIS3
Description
The DIS3 (DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease) is a protein-coding gene located on chromosome 13.
DIS3 is a human gene that encodes an enzyme called RRP44 or Dis3. This enzyme is an RNase (ribonuclease) with homology to the yeast protein Rrp44 and is a component of the exosome complex found in the nucleus of eukaryotic cells. The exosome complex is essential for the proper processing and degradation of RNA molecules within the cell.
DIS3 is a key component of the RNA exosome complex, an essential cellular machinery involved in a wide range of RNA processing and degradation events. DIS3 exhibits both 3'-5' exonuclease and endonuclease activities, playing a crucial role in the nucleus and cytoplasm. In the nucleus, the RNA exosome complex, with DIS3 as a catalytic subunit, ensures proper maturation of stable RNA species such as rRNA, snRNA, and snoRNA. It also eliminates RNA processing by-products and non-coding transcripts like antisense RNA and PROMPTs, while degrading mRNAs with processing defects, thereby controlling their export to the cytoplasm. The RNA exosome complex, potentially involving DIS3, might participate in Ig class switch recombination (CSR) and somatic hypermutation (SHM) by directing AICDA deamination to transcribed dsDNA substrates. In the cytoplasm, DIS3 contributes to general mRNA turnover, specifically targeting unstable mRNAs with AU-rich elements (AREs) in their 3' untranslated regions. It also plays a role in RNA surveillance pathways, preventing the translation of aberrant mRNAs. Additionally, DIS3 seems to be involved in the degradation of histone mRNA.
DIS3 is also known as 2810028N01Rik, EXOSC11, KIAA1008, RRP44, dis3p.
Associated Diseases
- Perlman syndrome
- Miyoshi myopathy
- X-linked retinal dysplasia
- retinitis pigmentosa
- severe early-childhood-onset retinal dystrophy
