EXOSC8
entrez
11340
canonical
uniprot
Q96B26
canonical
ensembl
ENSG00000120699
resolver
ensp
ENSP00000374354
resolver
enst
ENST00000389704
resolver
genesymbol
EXOSC8
resolver
genesymbol_syn
OIP2
resolver
genesymbol_syn
RRP43
resolver
hgnc
HGNC:17035
resolver
uniprot
O43480
resolver
uniprot
Q5TBA5
resolver
uniprot_entry
EXOS8_HUMAN
resolver
uniprot_sec
O43480
resolver
uniprot_sec
Q5TBA5
resolver
amino_acid_sequence
MAAGFKTVEPLEYYRRFLKENCRPDGRELGEFRTTTVNIGSISTADGSALVKLGNTTVICGVKAEFAAPSTDAPDKGYVVPNVDLPPLCSSRFRSGPPGEEAQVASQFIADVIENSQIIQKEDLCISPGKLVWVLYCDLICLDYDGNILDACTFALLAALKNVQLPEVTINEETALAEVNLKKKSYLNIRTHPVATSFAVFDDTLLIVDPTGEEEHLATGTLTIVMDEEGKLCCLHKPGGSGLTGAKLQDCMSRAVTRHKEVKKLMDEVIKSMKPK
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 1C (PCH1C) [MIM:616081]: A severe autosomal recessive neurodegenerative disease characterized by cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system, and spinal motor neuron disease. Affected individuals manifest failure to thrive, severe muscle weakness, spasticity and psychomotor retardation. Vision and hearing are impaired. {ECO:0000269|PubMed:24989451}. Note=The disease is caused by variants affecting the gene represented in this entry. EXOSC8 dysfunction causes myelin disruption through an imbalanced supply of myelin proteins due to dysregulation of their ARE-containing mRNAs (PubMed:24989451). {ECO:0000269|PubMed:24989451}.
uniprot
proteins
function
FUNCTION: 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. EXOSC8 binds to ARE-containing RNAs. {ECO:0000269|PubMed:16912217, ECO:0000269|PubMed:17545563}.
uniprot
proteins
mass_dalton
30040
uniprot
proteins
protein_family
RNase PH family
uniprot
proteins
pubmed
11719186
uniprot
proteins
pubmed
12419256
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15231747
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16912217
uniprot
proteins
pubmed
17174896
uniprot
proteins
pubmed
17545563
uniprot
proteins
pubmed
20531389
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24989451
uniprot
proteins
pubmed
29906447
uniprot
proteins
pubmed
30047866
uniprot
proteins
pubmed
9466265
uniprot
proteins
sequence_length
276
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17545563}. Nucleus {ECO:0000269|PubMed:17545563}. Nucleus, nucleolus {ECO:0000250}.
uniprot
proteins