EXOSC8
Exosome complex component RRP43
Also known as: bA421P11.3, CIP3, EAP2, EXOS8_HUMAN, OIP2, p9, RRP43, Rrp43p
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96B26
- Gene
- EXOSC8
- Ensembl
- ENSG00000120699
- Chromosome
- 13
- Canonical length
- 276 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli fibrillar center,Mitotic chromosome,Vesicles,Cytosol
OverviewNCBI Gene
This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009]
Canonical amino-acid sequenceUniProt
276 residues, UniProt reviewed canonical sequence.
>Q96B26|EXOSC8
1 MAAGFKTVEP LEYYRRFLKE NCRPDGRELG EFRTTTVNIG SISTADGSAL VKLGNTTVIC
61 GVKAEFAAPS TDAPDKGYVV PNVDLPPLCS SRFRSGPPGE EAQVASQFIA DVIENSQIIQ
121 KEDLCISPGK LVWVLYCDLI CLDYDGNILD ACTFALLAAL KNVQLPEVTI NEETALAEVN
181 LKKKSYLNIR THPVATSFAV FDDTLLIVDP TGEEEHLATG TLTIVMDEEG KLCCLHKPGG
241 SGLTGAKLQD CMSRAVTRHK EVKKLMDEVI KSMKPKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EXOSC8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- thymus: 29 nTPM
- bone marrow: 28 nTPM
- testis: 27 nTPM
- tonsil: 24 nTPM
- tongue: 23 nTPM
- skeletal muscle: 22 nTPM
Single-cell type
- late primary spermatocytes: 265 nCPM
- cardiomyocytes: 145 nCPM
- early primary spermatocytes: 126 nCPM
- oocytes: 124 nCPM
- migrating cytotrophoblasts: 118 nCPM
- early spermatids: 117 nCPM
Immune cell
- naive CD4 T-cell: 68 nTPM
- memory B-cell: 67 nTPM
- naive CD8 T-cell: 64 nTPM
- naive B-cell: 59 nTPM
- plasmacytoid DC: 56 nTPM
- T-reg: 55 nTPM
Brain region
- white matter: 11 nTPM
- medulla oblongata: 8.4 nTPM
- cerebral cortex: 8.1 nTPM
- cerebellum: 7.9 nTPM
- basal ganglia: 7.4 nTPM
- hypothalamus: 7.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EXOSC8.
Disease | AllUniProt
Conditions EXOSC8 is implicated in, by any mechanism.
- Pontocerebellar hypoplasia 1C (PCH1C) MIM:616081
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 138 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pontocerebellar hypoplasia, type 1C
- Spastic ataxia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.69
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.85
- DepMap mean gene effect
- -1.1
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
- nuclear mRNA surveillance
- nuclear polyadenylation-dependent rRNA catabolic process
- RNA catabolic process
- RNA processing
- rRNA catabolic process
- TRAMP-dependent tRNA surveillance pathway
- U1 snRNA 3'-end processing
- U4 snRNA 3'-end processing
- U5 snRNA 3'-end processing
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Exoribonuclease, phosphorolytic domain 1
- Exoribonuclease, phosphorolytic domain 2
- Ribosomal protein uS5 domain 2-type superfamily
- PNPase/RNase PH domain superfamily
- Exoribonuclease, PH domain 2 superfamily
- Exosome complex component Rrp42 subfamily
- 3' exoribonuclease family, domain 1
- 3' exoribonuclease family, domain 2
- Exosome complex component Rrp43
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EXOSC8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EXOSC8 as an antibody target. Whether an autoantibody or antibody against EXOSC8 could matter depends on whether native EXOSC8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EXOSC8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label EXOSC8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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