EXOSC1
entrez
51013
canonical
uniprot
Q9Y3B2
canonical
ensembl
ENSG00000171311
resolver
ensp
ENSP00000359922
resolver
ensp
ENSP00000359939
resolver
ensp
ENSP00000559495
resolver
ensp
ENSP00000559496
resolver
ensp
ENSP00000559497
resolver
enst
ENST00000370885
resolver
enst
ENST00000370902
resolver
enst
ENST00000889436
resolver
genesymbol
EXOSC1
resolver
genesymbol_syn
CSL4
resolver
hgnc
HGNC:17286
resolver
uniprot
B1AMU3
resolver
uniprot
B2R9B3
resolver
uniprot
Q5JTH3
resolver
uniprot_entry
B1AMU3_HUMAN
resolver
uniprot_entry
EXOS1_HUMAN
resolver
uniprot_sec
B2R9B3
resolver
uniprot_sec
Q5JTH3
resolver
amino_acid_sequence
MAPPVRYCIPGERLCNLEEGSPGSGTYTRHGYIFSSLAGCLMKSSENGALPVVSVVRETESQLLPDVGAIVTCKVSSINSRFAKVHILYVGSMPLKNSFRGTIRKEDVRATEKDKVEIYKSFRPGDIVLAKVISLGDAQSNYLLTTAENELGVVVAHSESGIQMVPISWCEMQCPKTHTKEFRKVARVQPEFLQT
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 1F (PCH1F) [MIM:619304]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH1F is an autosomal recessive form characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features. Brain imaging shows pontocerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and delayed myelination. {ECO:0000269|PubMed:33463720}. 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. EXOSC1 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC6 and EXOSC8.
uniprot
proteins
mass_dalton
21452
uniprot
proteins
protein_family
CSL4 family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11719186
uniprot
proteins
pubmed
11812149
uniprot
proteins
pubmed
12419256
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15231747
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17174896
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20531389
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21791617
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
29906447
uniprot
proteins
pubmed
30047866
uniprot
proteins
pubmed
33463720
uniprot
proteins
sequence_length
195
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11812149}. Nucleus {ECO:0000305|PubMed:11812149}. Cytoplasm {ECO:0000305|PubMed:11812149}.
uniprot
proteins