Seroatlas · Human Serome Atlas

ERCC4

DNA repair endonuclease XPF

Also known as: FANCQ, RAD1, XPF, XPF_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q92889
Gene
ERCC4
Ensembl
ENSG00000175595
Chromosome
16
Canonical length
916 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear bodies,Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

916 residues, UniProt reviewed canonical sequence.

>Q92889|ERCC4
     1  MESGQPARRI AMAPLLEYER QLVLELLDTD GLVVCARGLG ADRLLYHFLQ LHCHPACLVL
    61  VLNTQPAEEE YFINQLKIEG VEHLPRRVTN EITSNSRYEV YTQGGVIFAT SRILVVDFLT
   121  DRIPSDLITG ILVYRAHRII ESCQEAFILR LFRQKNKRGF IKAFTDNAVA FDTGFCHVER
   181  VMRNLFVRKL YLWPRFHVAV NSFLEQHKPE VVEIHVSMTP TMLAIQTAIL DILNACLKEL
   241  KCHNPSLEVE DLSLENAIGK PFDKTIRHYL DPLWHQLGAK TKSLVQDLKI LRTLLQYLSQ
   301  YDCVTFLNLL ESLRATEKAF GQNSGWLFLD SSTSMFINAR ARVYHLPDAK MSKKEKISEK
   361  MEIKEGEETK KELVLESNPK WEALTEVLKE IEAENKESEA LGGPGQVLIC ASDDRTCSQL
   421  RDYITLGAEA FLLRLYRKTF EKDSKAEEVW MKFRKEDSSK RIRKSHKRPK DPQNKERAST
   481  KERTLKKKKR KLTLTQMVGK PEELEEEGDV EEGYRREISS SPESCPEEIK HEEFDVNLSS
   541  DAAFGILKEP LTIIHPLLGC SDPYALTRVL HEVEPRYVVL YDAELTFVRQ LEIYRASRPG
   601  KPLRVYFLIY GGSTEEQRYL TALRKEKEAF EKLIREKASM VVPEEREGRD ETNLDLVRGT
   661  ASADVSTDTR KAGGQEQNGT QQSIVVDMRE FRSELPSLIH RRGIDIEPVT LEVGDYILTP
   721  EMCVERKSIS DLIGSLNNGR LYSQCISMSR YYKRPVLLIE FDPSKPFSLT SRGALFQEIS
   781  SNDISSKLTL LTLHFPRLRI LWCPSPHATA ELFEELKQSK PQPDAATALA ITADSETLPE
   841  SEKYNPGPQD FLLKMPGVNA KNCRSLMHHV KNIAELAALS QDELTSILGN AANAKQLYDF
   901  IHTSFAEVVS KGKGKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERCC4 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
17 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 17 nTPM
  • testis: 4.5 nTPM
  • thymus: 3.6 nTPM
  • thyroid gland: 3.6 nTPM
  • adrenal gland: 3.3 nTPM
  • retina: 3.3 nTPM

Single-cell type

  • early spermatids: 265 nCPM
  • late spermatids: 220 nCPM
  • early primary spermatocytes: 64 nCPM
  • sertoli cells: 63 nCPM
  • late primary spermatocytes: 48 nCPM
  • müller glia: 47 nCPM

Immune cell

  • basophil: 3 nTPM
  • neutrophil: 2.7 nTPM
  • NK-cell: 2.4 nTPM
  • plasmacytoid DC: 2.4 nTPM
  • naive B-cell: 2.2 nTPM
  • eosinophil: 1.9 nTPM

Brain region

  • cerebellum: 16 nTPM
  • white matter: 16 nTPM
  • cerebral cortex: 14 nTPM
  • thalamus: 14 nTPM
  • medulla oblongata: 14 nTPM
  • basal ganglia: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERCC4.

Disease | AllUniProt

Conditions ERCC4 is implicated in, by any mechanism.

  • Xeroderma pigmentosum complementation group F (XP-F) MIM:278760
  • XFE progeroid syndrome (XFEPS) MIM:610965
  • Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) MIM:278760
  • Fanconi anemia complementation group Q (FANCQ) MIM:615272

Disease | GeneticClinVar

68 pathogenic / likely-pathogenic of 1,030 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)
0.9
gnomAD pLI
0
gnomAD missense Z
-0.76
DepMap mean gene effect
-0.28
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 ERCC4 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 ERCC4 as an antibody target. Whether an autoantibody or antibody against ERCC4 could matter depends on whether native ERCC4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ERCC4 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 ERCC4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ERCC4. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...