EXOSC3
Exosome complex component RRP40
Also known as: CGI-102, EXOS3_HUMAN, hRrp-40, hRrp40p, p10, RRP40, Rrp40p
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NQT5
- Gene
- EXOSC3
- Ensembl
- ENSG00000107371
- Chromosome
- 9
- Canonical length
- 275 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]
Canonical amino-acid sequenceUniProt
275 residues, UniProt reviewed canonical sequence.
>Q9NQT5|EXOSC3
1 MAEPASVAAE SLAGSRARAA RTVLGQVVLP GEELLLPEQE DAEGPGGAVE RPLSLNARAC
61 SRVRVVCGPG LRRCGDRLLV TKCGRLRHKE PGSGSGGGVY WVDSQQKRYV PVKGDHVIGI
121 VTAKSGDIFK VDVGGSEPAS LSYLSFEGAT KRNRPNVQVG DLIYGQFVVA NKDMEPEMVC
181 IDSCGRANGM GVIGQDGLLF KVTLGLIRKL LAPDCEIIQE VGKLYPLEIV FGMNGRIWVK
241 AKTIQQTLIL ANILEACEHM TSDQRKQIFS RLAESLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EXOSC3 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)
- 0.37
- Highest tissue expression
- 20 nTPM
Expression across tissuesHPA
Tissue
- testis: 20 nTPM
- esophagus: 13 nTPM
- thymus: 12 nTPM
- tonsil: 11 nTPM
- adrenal gland: 11 nTPM
- lymph node: 11 nTPM
Single-cell type
- early spermatids: 40 nCPM
- oligodendrocytes: 38 nCPM
- bergmann glia: 38 nCPM
- astrocytes: 33 nCPM
- brain excitatory neurons: 33 nCPM
- oligodendrocyte progenitor cells: 32 nCPM
Immune cell
- total PBMC: 56 nTPM
- intermediate monocyte: 54 nTPM
- memory B-cell: 54 nTPM
- T-reg: 52 nTPM
- plasmacytoid DC: 51 nTPM
- non-classical monocyte: 50 nTPM
Brain region
- cerebellum: 17 nTPM
- white matter: 13 nTPM
- cerebral cortex: 11 nTPM
- spinal cord: 10 nTPM
- choroid plexus: 10 nTPM
- hypothalamus: 10 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EXOSC3.
Disease | AllUniProt
Conditions EXOSC3 is implicated in, by any mechanism.
- Pontocerebellar hypoplasia 1B (PCH1B) MIM:614678
Disease | GeneticClinVar
51 pathogenic / likely-pathogenic of 321 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pontocerebellar hypoplasia type 1B
- Pontoneocerebellar hypoplasia
- Inborn genetic diseases
- Hypotonia
- See cases
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)
- 1.21
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.22
- DepMap mean gene effect
- -1.18
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- CUT catabolic process
- DNA deamination
- exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
- isotype switching
- mRNA catabolic process
- nuclear polyadenylation-dependent rRNA catabolic process
- nuclear-transcribed mRNA catabolic process
- poly(A)-dependent snoRNA 3'-end processing
- positive regulation of isotype switching
- RNA catabolic process
- RNA processing
- rRNA processing
- TRAMP-dependent tRNA surveillance pathway
- U4 snRNA 3'-end processing
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- K Homology domain, type 1
- Nucleic acid-binding, OB-fold
- Exosome complex RNA-binding protein 1/RRP40/RRP4
- K Homology domain, type 1 superfamily
- KH domain
- Rrp40, S1 domain
- Exosome complex component RRP40, N-terminal domain
- Exosome complex component RRP40, type I KH domain
- Mammalian exosome complex component RRP40, N-terminal
- Exosome complex component RRP40, S1 domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EXOSC3 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 EXOSC3 as an antibody target. Whether an autoantibody or antibody against EXOSC3 could matter depends on whether native EXOSC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EXOSC3 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 EXOSC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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