AlphaFold predicted structure
EXOSC5 · Q9NQT4

Mean pLDDT
84.4/ 100
Confident
235 residues
Confidence breakdown
- Very high(≥ 90)64%
- Confident(70–90)24%
- Low(50–70)1%
- Very low(< 50)11%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
exosome component 5
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalcerebellar ataxia, brain abnormalities, and cardiac conduction defects
neurodegenerative disease
Global developmental delay
cerebellar ataxia
Ataxia
Short stature
Motor delay
short stature due to GHSR deficiency
Cerebellar hypoplasia
hereditary disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Exosome complex component RRP46
Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes (PubMed:11782436, PubMed:21269460). In vitro, EXOSC5 does not bind or digest single-stranded RNA and binds to double-stranded DNA without detectable DNase activity (PubMed:20660080)
EXOSC5 · Q9NQT4

Mean pLDDT
84.4/ 100
Confident
235 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0