Seroatlas · Human Serome Atlas

ERCC1

DNA excision repair protein ERCC-1

Also known as: ERCC1_HUMAN, RAD10

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

Protein identityUniProt · HPA

UniProt accession
P07992
Gene
ERCC1
Ensembl
ENSG00000012061
Chromosome
19
Canonical length
297 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

297 residues, UniProt reviewed canonical sequence.

>P07992|ERCC1
     1  MDPGKDKEGV PQPSGPPARK KFVIPLDEDE VPPGVAKPLF RSTQSLPTVD TSAQAAPQTY
    61  AEYAISQPLE GAGATCPTGS EPLAGETPNQ ALKPGAKSNS IIVSPRQRGN PVLKFVRNVP
   121  WEFGDVIPDY VLGQSTCALF LSLRYHNLHP DYIHGRLQSL GKNFALRVLL VQVDVKDPQQ
   181  ALKELAKMCI LADCTLILAW SPEEAGRYLE TYKAYEQKPA DLLMEKLEQD FVSRVTECLT
   241  TVKSVNKTDS QTLLTTFGSL EQLIAASRED LALCPGLGPQ KARRLFDVLH EPFLKVP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERCC1 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)
0.45
Highest tissue expression
103 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 103 nTPM
  • skeletal muscle: 81 nTPM
  • tongue: 77 nTPM
  • choroid plexus: 74 nTPM
  • salivary gland: 67 nTPM
  • blood vessel: 58 nTPM

Single-cell type

  • epicardial cells: 5,322 nCPM
  • salivary myoepithelial cells: 1,326 nCPM
  • mast cells: 748 nCPM
  • salivary acinar cells: 734 nCPM
  • salivary basal cells: 690 nCPM
  • endometrial stromal cells: 646 nCPM

Immune cell

  • plasmacytoid DC: 317 nTPM
  • intermediate monocyte: 143 nTPM
  • myeloid DC: 135 nTPM
  • classical monocyte: 132 nTPM
  • non-classical monocyte: 108 nTPM
  • total PBMC: 90 nTPM

Brain region

  • choroid plexus: 64 nTPM
  • cerebral cortex: 54 nTPM
  • medulla oblongata: 52 nTPM
  • cerebellum: 49 nTPM
  • hypothalamus: 48 nTPM
  • pons: 48 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERCC1.

Disease | AllUniProt

Conditions ERCC1 is implicated in, by any mechanism.

  • Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) MIM:610758

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 205 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)
1.3
gnomAD pLI
0
gnomAD missense Z
0.66
DepMap mean gene effect
-0.2
DepMap dependency class
selective

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 ERCC1 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 ERCC1 as an antibody target. Whether an autoantibody or antibody against ERCC1 could matter depends on whether native ERCC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ERCC1 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 ERCC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ERCC1. 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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