Exosome component 5

Exosome component 5, also known as EXOSC5, is a human gene, which is part of the exosome complex.^[5]

EXOSC5
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2NN6
Identifiers
Aliases	EXOSC5, RRP41B, RRP46, Rrp46p, hRrp46p, p12B, Exosome component 5, CABAC
External IDs	OMIM: 606492; MGI: 107889; HomoloGene: 5981; GeneCards: EXOSC5; OMA:EXOSC5 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.2 Start 41,386,371 bp[1] End 41,397,362 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 A3|7 13.96 cM Start 25,358,589 bp[2] End 25,370,793 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte gastrocnemius muscle muscle of thigh body of pancreas gonad prefrontal cortex C1 segment right adrenal gland skin of abdomen skin of leg Top expressed in seminiferous tubule spermatid spermatocyte embryo yolk sac embryo morula morula epiblast right kidney More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 3'-5'-exoribonuclease activity exoribonuclease activity protein binding RNA binding Cellular component cytoplasm cytosol exosome (RNase complex) nuclear exosome (RNase complex) cytoplasmic exosome (RNase complex) nucleolus nucleus nucleoplasm Biological process regulation of mRNA stability nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' rRNA 3'-end processing rRNA catabolic process DNA deamination nuclear mRNA surveillance defense response to virus exonucleolytic catabolism of deadenylated mRNA U4 snRNA 3'-end processing polyadenylation-dependent snoRNA 3'-end processing RNA catabolic process rRNA processing RNA phosphodiester bond hydrolysis, exonucleolytic Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56915 27998 Ensembl ENSG00000077348 ENSMUSG00000061286 UniProt Q9NQT4 Q9CRA8 RefSeq (mRNA) NM_020158 NM_138586 RefSeq (protein) NP_064543 NP_613052 Location (UCSC) Chr 19: 41.39 – 41.4 Mb Chr 7: 25.36 – 25.37 Mb PubMed search [3] [4]
Wikidata
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Biallelic pathogenic variation in EXOSC5 causes autosomal recessive cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC, MIM 619576).^[6][7][8][9] Individuals with CABAC often have delayed developmental milestones, intellectual disability, cerebellar ataxia, hypotonia, dysarthria, and dysmorphic facies. Cardiac abnormalities including conduction defects, right bundle branch block, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and/or ventricular tachycardia. Cardiac pacemakers and defibrillators have been needed, and sudden cardiac death has been reported.^[6][7][8][9]

Interactions

Exosome component 5 has been shown to interact with:

• Exosome component 1,^[10][11] and
• Exosome component 8.^[10]