EXOSC5
entrez
56915
canonical
uniprot
Q9NQT4
canonical
ensembl
ENSG00000077348
resolver
ensp
ENSP00000221233
resolver
enst
ENST00000221233
resolver
genesymbol
EXOSC5
resolver
genesymbol_syn
CML28
resolver
genesymbol_syn
RRP46
resolver
hgnc
HGNC:24662
resolver
uniprot
Q32Q81
resolver
uniprot
Q8NG16
resolver
uniprot
Q96I89
resolver
uniprot_entry
EXOS5_HUMAN
resolver
uniprot_sec
Q32Q81
resolver
uniprot_sec
Q8NG16
resolver
uniprot_sec
Q96I89
resolver
amino_acid_sequence
MEEETHTDAKIRAENGTGSSPRGPGCSLRHFACEQNLLSRPDGSASFLQGDTSVLAGVYGPAEVKVSKEIFNKATLEVILRPKIGLPGVAEKSRERLIRNTCEAVVLGTLHPRTSITVVLQVVSDAGSLLACCLNAACMALVDAGVPMRALFCGVACALDSDGTLVLDPTSKQEKEARAVLTFALDSVERKLLMSSTKGLYSDTELQQCLAAAQAASQHVFRFYRESLQRRYSKS
uniprot
proteins
disease_involvement
DISEASE: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) [MIM:619576]: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development and speech delay that are observed in most patients. Disease manifestations are variable and include infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Additional variable features are dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and non-specific dysmorphic features. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence. {ECO:0000269|PubMed:30950035, ECO:0000269|PubMed:32504085, ECO:0000269|PubMed:34089229}. Note=The disease is caused by variants affecting the gene represented in this entry.
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 (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). {ECO:0000269|PubMed:11782436, ECO:0000269|PubMed:20660080, ECO:0000269|PubMed:21269460}.
uniprot
proteins
mass_dalton
25249
uniprot
proteins
protein_family
RNase PH family
uniprot
proteins
pubmed
10465791
uniprot
proteins
pubmed
11110791
uniprot
proteins
pubmed
11719186
uniprot
proteins
pubmed
11782436
uniprot
proteins
pubmed
11812149
uniprot
proteins
pubmed
12359762
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17174896
uniprot
proteins
pubmed
17185417
uniprot
proteins
pubmed
18334637
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20531389
uniprot
proteins
pubmed
20660080
uniprot
proteins
pubmed
21255825
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21515746
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
29906447
uniprot
proteins
pubmed
30047866
uniprot
proteins
pubmed
30950035
uniprot
proteins
pubmed
32504085
uniprot
proteins
pubmed
34089229
uniprot
proteins
sequence_length
235
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11812149}. Cytoplasm {ECO:0000305|PubMed:11812149}. Nucleus {ECO:0000305|PubMed:11812149}.
uniprot
proteins