EXOSC9
entrez
5393
canonical
uniprot
Q06265
canonical
ensembl
ENSG00000123737
resolver
ensp
ENSP00000243498
resolver
ensp
ENSP00000368984
resolver
genesymbol
EXOSC9
resolver
genesymbol_syn
PMSCL1
resolver
hgnc
HGNC:9137
resolver
uniprot
B4DXG8
resolver
uniprot
Q12883
resolver
uniprot
Q4W5P5
resolver
uniprot
Q86Y41
resolver
uniprot
Q86Y48
resolver
uniprot_entry
B4DXG8_HUMAN
resolver
uniprot_entry
EXOS9_HUMAN
resolver
uniprot_sec
Q12883
resolver
uniprot_sec
Q4W5P5
resolver
uniprot_sec
Q86Y41
resolver
uniprot_sec
Q86Y48
resolver
amino_acid_sequence
MKETPLSNCERRFLLRAIEEKKRLDGRQTYDYRNIRISFGTDYGCCIVELGKTRVLGQVSCELVSPKLNRATEGILFFNLELSQMAAPAFEPGRQSDLLVKLNRLMERCLRNSKCIDTESLCVVAGEKVWQIRVDLHLLNHDGNIIDAASIAAIVALCHFRRPDVSVQGDEVTLYTPEERDPVPLSIHHMPICVSFAFFQQGTYLLVDPNEREERVMDGLLVIAMNKHREICTIQSSGGIMLLKDQVLRCSKIAGVKVAEITELILKALENDQKVRKEGGKFGFAESIANQRITAFKMEKAPIDTSDVEEKAEEIIAEAEPPSEVVSTPVLWTPGTAQIGEGVENSWGDLEDSEKEDDEGGGDQAIILDGIKMDTGVEVSDIGSQDAPIILSDSEEEEMIILEPDKNPKKIRTQTTSAKQEKAPSKKPVKRRKKKRAAN
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 1D (PCH1D) [MIM:618065]: An autosomal recessive neurologic disorder with onset at birth or in infancy, and characterized by progressive axonal motor neuronopathy, severe generalized hypotonia, respiratory insufficiency, and cerebellar atrophy. Death in childhood may occur. {ECO:0000269|PubMed:29727687}. 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. EXOSC9 binds to ARE-containing RNAs. {ECO:0000269|PubMed:11782436, ECO:0000269|PubMed:16455498, ECO:0000269|PubMed:16912217, ECO:0000269|PubMed:17545563}.
uniprot
proteins
mass_dalton
48949
uniprot
proteins
mutagenesis
MUTAGEN 388..391; /note="PIIL->EECP: Abolishes interaction with SETX."; /evidence="ECO:0000269|PubMed:24105744"; MUTAGEN 388..391; /note="Missing: Abolishes interaction with SETX."; /evidence="ECO:0000269|PubMed:24105744"; MUTAGEN 390..391; /note="Missing: Abolishes interaction with SETX."; /evidence="ECO:0000269|PubMed:24105744"; MUTAGEN 395..398; /note="EEEE->AAAA: Abolishes interaction with SETX."; /evidence="ECO:0000269|PubMed:24105744"; MUTAGEN 395..398; /note="Missing: Abolishes interaction with SETX."; /evidence="ECO:0000269|PubMed:24105744
uniprot
proteins
protein_family
RNase PH family
uniprot
proteins
pubmed
10465791
uniprot
proteins
pubmed
11719186
uniprot
proteins
pubmed
11782436
uniprot
proteins
pubmed
12788944
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16455498
uniprot
proteins
pubmed
16912217
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17174896
uniprot
proteins
pubmed
17545563
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
2007859
uniprot
proteins
pubmed
20531389
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24105744
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29727687
uniprot
proteins
pubmed
29906447
uniprot
proteins
pubmed
30047866
uniprot
proteins
sequence_length
439
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11782436}. Nucleus {ECO:0000269|PubMed:24105744}. Nucleus, nucleolus {ECO:0000269|PubMed:24105744}. Nucleus, nucleoplasm {ECO:0000269|PubMed:24105744}. Note=Colocalizes with SETX in nuclear foci upon induction of transcription-related DNA damage at the S phase (PubMed:24105744). {ECO:0000269|PubMed:24105744}.; SUBCELLULAR LOCATION: [Isoform 1]: Nucleus, nucleolus.; SUBCELLULAR LOCATION: [Isoform 2]: Nucleus, nucleolus.; SUBCELLULAR LOCATION: [Isoform 3]: Nucleus. Note=Excluded from the nucleolus.
uniprot
proteins