EXOSC3
entrez
51010
canonical
uniprot
Q9NQT5
canonical
ensembl
ENSG00000107371
resolver
ensp
ENSP00000323046
resolver
ensp
ENSP00000379775
resolver
genesymbol
EXOSC3
resolver
genesymbol_syn
RRP40
resolver
hgnc
HGNC:17944
resolver
uniprot
A8K0K6
resolver
uniprot
Q5QP85
resolver
uniprot
Q9Y3A8
resolver
uniprot_entry
EXOS3_HUMAN
resolver
uniprot_sec
A8K0K6
resolver
uniprot_sec
Q5QP85
resolver
uniprot_sec
Q9Y3A8
resolver
amino_acid_sequence
MAEPASVAAESLAGSRARAARTVLGQVVLPGEELLLPEQEDAEGPGGAVERPLSLNARACSRVRVVCGPGLRRCGDRLLVTKCGRLRHKEPGSGSGGGVYWVDSQQKRYVPVKGDHVIGIVTAKSGDIFKVDVGGSEPASLSYLSFEGATKRNRPNVQVGDLIYGQFVVANKDMEPEMVCIDSCGRANGMGVIGQDGLLFKVTLGLIRKLLAPDCEIIQEVGKLYPLEIVFGMNGRIWVKAKTIQQTLILANILEACEHMTSDQRKQIFSRLAES
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]: A severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. {ECO:0000269|PubMed:22544365}. 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. EXOSC3 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC9 and EXOSC5. {ECO:0000269|PubMed:11782436, ECO:0000269|PubMed:17545563, ECO:0000269|PubMed:19056938, ECO:0000269|PubMed:21255825}.
uniprot
proteins
mass_dalton
29572
uniprot
proteins
protein_family
RRP40 family
uniprot
proteins
pubmed
10465791
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11110791
uniprot
proteins
pubmed
11719186
uniprot
proteins
pubmed
11782436
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14731398
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17174896
uniprot
proteins
pubmed
17545563
uniprot
proteins
pubmed
18334637
uniprot
proteins
pubmed
19056938
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20531389
uniprot
proteins
pubmed
21255825
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21515746
uniprot
proteins
pubmed
21876179
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22544365
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25841024
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28204585
uniprot
proteins
pubmed
29906447
uniprot
proteins
pubmed
30047866
uniprot
proteins
sequence_length
275
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17545563}. Nucleus, nucleolus {ECO:0000269|PubMed:20531389}. Nucleus {ECO:0000269|PubMed:17545563}.
uniprot
proteins