Seroatlas · Human Serome Atlas

ERCC8

DNA excision repair protein ERCC-8

Also known as: CKN1, CSA, ERCC8_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q13216
Gene
ERCC8
Ensembl
ENSG00000049167
Chromosome
5
Canonical length
396 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear speckles

OverviewNCBI Gene

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

Canonical amino-acid sequenceUniProt

396 residues, UniProt reviewed canonical sequence.

>Q13216|ERCC8
     1  MLGFLSARQT GLEDPLRLRR AESTRRVLGL ELNKDRDVER IHGGGINTLD IEPVEGRYML
    61  SGGSDGVIVL YDLENSSRQS YYTCKAVCSI GRDHPDVHRY SVETVQWYPH DTGMFTSSSF
   121  DKTLKVWDTN TLQTADVFNF EETVYSHHMS PVSTKHCLVA VGTRGPKVQL CDLKSGSCSH
   181  ILQGHRQEIL AVSWSPRYDY ILATASADSR VKLWDVRRAS GCLITLDQHN GKKSQAVESA
   241  NTAHNGKVNG LCFTSDGLHL LTVGTDNRMR LWNSSNGENT LVNYGKVCNN SKKGLKFTVS
   301  CGCSSEFVFV PYGSTIAVYT VYSGEQITML KGHYKTVDCC VFQSNFQELY SGSRDCNILA
   361  WVPSLYEPVP DDDETTTKSQ LNPAFEDAWS SSDEEG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERCC8 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)
0.27
Highest tissue expression
3.9 nTPM

Expression across tissuesHPA

Tissue

  • breast: 3.9 nTPM
  • kidney: 3.9 nTPM
  • tongue: 3.9 nTPM
  • thymus: 3.8 nTPM
  • ovary: 3.7 nTPM
  • adipose tissue: 3.6 nTPM

Single-cell type

  • myonuclei: 144 nCPM
  • cardiomyocytes: 94 nCPM
  • oligodendrocytes: 85 nCPM
  • adipocytes: 82 nCPM
  • choroid plexus epithelial cells: 78 nCPM
  • early spermatids: 76 nCPM

Immune cell

  • myeloid DC: 6.4 nTPM
  • classical monocyte: 3.5 nTPM
  • intermediate monocyte: 3.1 nTPM
  • naive CD4 T-cell: 3.1 nTPM
  • memory CD8 T-cell: 3 nTPM
  • naive CD8 T-cell: 3 nTPM

Brain region

  • cerebellum: 18 nTPM
  • cerebral cortex: 17 nTPM
  • white matter: 16 nTPM
  • basal ganglia: 15 nTPM
  • pons: 14 nTPM
  • amygdala: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERCC8.

Disease | AllUniProt

Conditions ERCC8 is implicated in, by any mechanism.

Disease | GeneticClinVar

127 pathogenic / likely-pathogenic of 617 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.36
gnomAD pLI
0
gnomAD missense Z
-0.4
DepMap mean gene effect
-0.07
DepMap dependency class
selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ERCC8 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 ERCC8 as an antibody target. Whether an autoantibody or antibody against ERCC8 could matter depends on whether native ERCC8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ERCC8 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 ERCC8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ERCC8. 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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