Seroatlas · Human Serome Atlas

EXOSC5

Exosome complex component RRP46

Also known as: EXOS5_HUMAN, hRrp46p, MGC12901, p12B, RRP41B, RRP46, Rrp46p

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9NQT4
Gene
EXOSC5
Ensembl
ENSG00000077348
Chromosome
19
Canonical length
235 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli
Quaternary structure
Homodimer

OverviewNCBI Gene

Predicted to enable RNA binding activity. Involved in DNA deamination; RNA processing; and mRNA catabolic process. Acts upstream of or within defense response to virus. Located in cytosol; euchromatin; and nuclear lumen. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

235 residues, UniProt reviewed canonical sequence.

>Q9NQT4|EXOSC5
     1  MEEETHTDAK IRAENGTGSS PRGPGCSLRH FACEQNLLSR PDGSASFLQG DTSVLAGVYG
    61  PAEVKVSKEI FNKATLEVIL RPKIGLPGVA EKSRERLIRN TCEAVVLGTL HPRTSITVVL
   121  QVVSDAGSLL ACCLNAACMA LVDAGVPMRA LFCGVACALD SDGTLVLDPT SKQEKEARAV
   181  LTFALDSVER KLLMSSTKGL YSDTELQQCL AAAQAASQHV FRFYRESLQR RYSKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EXOSC5 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)
0.31
Highest tissue expression
45 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 45 nTPM
  • pancreas: 31 nTPM
  • skin: 25 nTPM
  • spinal cord: 24 nTPM
  • basal ganglia: 24 nTPM
  • esophagus: 23 nTPM

Single-cell type

  • extravillous trophoblasts: 149 nCPM
  • migrating cytotrophoblasts: 94 nCPM
  • esophageal basal cells: 85 nCPM
  • oocytes: 74 nCPM
  • differentiating spermatogonia: 65 nCPM
  • esophageal suprabasal cells: 60 nCPM

Immune cell

  • plasmacytoid DC: 116 nTPM
  • myeloid DC: 107 nTPM
  • intermediate monocyte: 75 nTPM
  • naive B-cell: 72 nTPM
  • classical monocyte: 66 nTPM
  • memory B-cell: 65 nTPM

Brain region

  • white matter: 20 nTPM
  • medulla oblongata: 17 nTPM
  • pons: 16 nTPM
  • basal ganglia: 15 nTPM
  • cerebellum: 14 nTPM
  • spinal cord: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EXOSC5.

Disease | AllUniProt

Conditions EXOSC5 is implicated in, by any mechanism.

  • Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) MIM:619576

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 74 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Cerebellar ataxia, brain abnormalities, and cardiac conduction defects

Disease | ImmuneIEDB

Conditions an epitope on EXOSC5 was assayed in.

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)
1.14
gnomAD pLI
0
gnomAD missense Z
0.48
DepMap mean gene effect
-0.74
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EXOSC5 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 EXOSC5 as an antibody target. Whether an autoantibody or antibody against EXOSC5 could matter depends on whether native EXOSC5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EXOSC5 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 EXOSC5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EXOSC5. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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