Seroatlas · Human Serome Atlas

EXOSC1

Exosome complex component CSL4

Also known as: CGI-108, CSL4, Csl4p, EXOS1_HUMAN, hCsl4p, p13, SKI4, Ski4p

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

Protein identityUniProt · HPA

UniProt accession
Q9Y3B2
Gene
EXOSC1
Ensembl
ENSG00000171311
Chromosome
10
Canonical length
195 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

195 residues, UniProt reviewed canonical sequence.

>Q9Y3B2|EXOSC1
     1  MAPPVRYCIP GERLCNLEEG SPGSGTYTRH GYIFSSLAGC LMKSSENGAL PVVSVVRETE
    61  SQLLPDVGAI VTCKVSSINS RFAKVHILYV GSMPLKNSFR GTIRKEDVRA TEKDKVEIYK
   121  SFRPGDIVLA KVISLGDAQS NYLLTTAENE LGVVVAHSES GIQMVPISWC EMQCPKTHTK
   181  EFRKVARVQP EFLQT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EXOSC1 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)
0.34
Highest tissue expression
40 nTPM

Expression across tissuesHPA

Tissue

  • epididymis: 40 nTPM
  • choroid plexus: 39 nTPM
  • pancreas: 37 nTPM
  • stomach: 31 nTPM
  • thymus: 30 nTPM
  • lymph node: 30 nTPM

Single-cell type

  • esophageal suprabasal cells: 108 nCPM
  • extravillous trophoblasts: 83 nCPM
  • esophageal apical cells: 78 nCPM
  • esophageal basal cells: 76 nCPM
  • decidual stromal cells: 66 nCPM
  • cytotrophoblasts: 66 nCPM

Immune cell

  • T-reg: 145 nTPM
  • intermediate monocyte: 133 nTPM
  • non-classical monocyte: 122 nTPM
  • memory B-cell: 110 nTPM
  • MAIT T-cell: 97 nTPM
  • myeloid DC: 97 nTPM

Brain region

  • cerebellum: 64 nTPM
  • white matter: 34 nTPM
  • basal ganglia: 30 nTPM
  • hypothalamus: 28 nTPM
  • medulla oblongata: 28 nTPM
  • thalamus: 28 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EXOSC1.

Disease | AllUniProt

Conditions EXOSC1 is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 45 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Pontocerebellar hypoplasia, type 1F

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)
1.49
gnomAD pLI
0
gnomAD missense Z
0.29
DepMap mean gene effect
-0.62
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 EXOSC1 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 EXOSC1 as an antibody target. Whether an autoantibody or antibody against EXOSC1 could matter depends on whether native EXOSC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EXOSC1 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 EXOSC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EXOSC1. 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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