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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
Chromosome 19 Β· 19q13.32
NCBI Gene: 2067Ensembl: ENSG00000012061.18HGNC: HGNC:3433UniProt: P07992
757PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
DNA repairnucleotide-excision repairsingle-stranded DNA endonuclease activityDNA bindingCOFS syndromeCockayne syndromeFanconi anemiaxeroderma pigmentosum
✦AI Summary

ERCC1 is the non-catalytic subunit of the ERCC1-XPF nuclease complex, a critical DNA repair enzyme 1. The ERCC1-XPF complex performs specialized endonuclease activities, cleaving DNA at junctions between double-stranded and single-stranded regions, particularly when single-strands are oriented 5' to 3' away from the junction 1. ERCC1 functions primarily in nucleotide excision repair (NER) for repairing platinum-induced DNA adducts and distorting lesions 2, and additionally contributes to interstrand crosslink repair, double-strand break repair pathways, and telomere regulation 1. ERCC1 expression levels significantly influence chemotherapy sensitivity; low ERCC1 expression correlates with prolonged survival in cisplatin/gemcitabine-treated lung cancer patients 2. Alternative splicing of ERCC1 exon 8 regulates ERCC1-XPF complex formation and cisplatin resistance in lung adenocarcinoma 3. Genetic polymorphisms in ERCC1 (rs11615, rs3212986, rs2298881) associate with chemotherapy response and clinical outcomes in osteosarcoma and gastric cancer, with specific genotypes predicting improved treatment response 4, 5. Complete ERCC1 deletion is embryonic lethal 1, while mutations cause rare inherited disorders including cerebro-oculo-facio-skeletal syndrome and xeroderma pigmentosum 1.

Sources cited
1
ERCC1-XPF nuclease structure, DNA cleavage specificity, roles in NER, crosslink repair, double-strand break repair, and telomere regulation; protein interactions
PMID: 26074087
2
ERCC1 as leading gene for repairing cisplatin DNA damage; low ERCC1 expression associated with prolonged survival in chemotherapy-treated NSCLC
PMID: 16807441
3
ERCC1 exon 8 alternative splicing regulates ERCC1-XPF complex formation and cisplatin resistance in lung adenocarcinoma cells
PMID: 39555714
4
ERCC1 polymorphisms rs11615 and rs2298881 associated with cisplatin chemotherapy response and overall survival in osteosarcoma
PMID: 26345951
5
ERCC1 rs11615 TT polymorphism associated with poorer chemotherapy response and shorter survival in gastric cancer
PMID: 25366763
Disease Associationsβ“˜21
COFS syndromeOpen Targets
0.72Strong
Cockayne syndromeOpen Targets
0.51Moderate
Fanconi anemiaOpen Targets
0.51Moderate
xeroderma pigmentosumOpen Targets
0.50Moderate
Cholestatic liver diseaseOpen Targets
0.42Moderate
Failure to thriveOpen Targets
0.42Moderate
Cutaneous photosensitivityOpen Targets
0.42Moderate
Global proximal tubulopathyOpen Targets
0.42Moderate
Premature ovarian insufficiencyOpen Targets
0.42Moderate
Cockayne syndrome type 2Open Targets
0.37Weak
thyroid hormone metabolism, abnormal 1Open Targets
0.33Weak
thyroid hormone metabolism, abnormal, 3Open Targets
0.33Weak
lung carcinomaOpen Targets
0.26Weak
urinary bladder carcinomaOpen Targets
0.20Weak
neoplasmOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
lung cancerOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.10Weak
Cerebro-oculo-facio-skeletal syndrome 4UniProt
Pathogenic Variants15
NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter)Pathogenic
Cerebrooculofacioskeletal syndrome 4|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 41
NM_001983.4(ERCC1):c.208G>T (p.Glu70Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 70
NM_001983.4(ERCC1):c.525+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001983.4(ERCC1):c.109A>T (p.Lys37Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 37
NM_001983.4(ERCC1):c.526-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001983.4(ERCC1):c.703-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2021
NM_001983.4(ERCC1):c.231del (p.Thr78fs)Likely pathogenic
Cerebrooculofacioskeletal syndrome 4
β˜…β˜†β˜†β˜†2021β†’ Residue 78
NM_001983.4(ERCC1):c.199C>T (p.Gln67Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 67
NM_001983.4(ERCC1):c.525+2T>CPathogenic
not provided
β˜…β˜†β˜†β˜†2018
NM_001983.4(ERCC1):c.155C>A (p.Ser52Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 52
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter)Likely pathogenic
Cerebrooculofacioskeletal syndrome 4
β˜…β˜†β˜†β˜†2016β†’ Residue 62
NM_001983.4(ERCC1):c.23dup (p.Val10fs)Likely pathogenic
Cerebrooculofacioskeletal syndrome 4
β˜…β˜†β˜†β˜†β†’ Residue 10
NM_001983.4(ERCC1):c.321+61_525+132delPathogenic
Global proximal tubulopathy;Failure to thrive;Cholestatic liver disease;Premature ovarian insufficiency;Cutaneous photosensitivity
β˜†β˜†β˜†β˜†2018
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)Pathogenic
Cerebrooculofacioskeletal syndrome 4|Cockayne syndrome
β˜†β˜†β˜†β˜†2013β†’ Residue 231
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter)Pathogenic
Cerebrooculofacioskeletal syndrome 4
β˜†β˜†β˜†β˜†2007β†’ Residue 158
View on ClinVar β†—
Related Genes
XPAProtein interaction100%SLX4Protein interaction100%RAD23BProtein interaction100%ERCC5Protein interaction100%ERCC2Protein interaction100%XPCProtein interaction99%
Tissue Expression6 tissues
Heart
100%
Ovary
62%
Lung
49%
Brain
41%
Liver
39%
Bone Marrow
33%
Gene Interaction Network
Click a node to explore
ERCC1XPASLX4RAD23BERCC5ERCC2XPC
PROTEIN STRUCTURE
Preparing viewer…
PDB2A1I Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.31LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.99 [0.76–1.31]
RankingsWhere ERCC1 stands among ~20K protein-coding genes
  • #268of 20,598
    Most Researched757 Β· top 5%
  • #2,426of 5,498
    Most Pathogenic Variants15
  • #13,740of 17,882
    Most Constrained (LOEUF)1.31
Genes detectedERCC1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
m
PMID: 39555714
Adv Sci (Weinh) Β· 2024
1.00
2
ERCC1 rs11615 polymorphism and chemosensitivity to platinum drugs in patients with ovarian cancer: a systematic review and meta-analysis.
PMID: 34148553
J Ovarian Res Β· 2021
0.94
3
Association of ERCC1 and ERCC2 Gene Polymorphisms with Pancreatic Cancer Risk: A Meta-Analysis.
PMID: 32749109
Crit Rev Eukaryot Gene Expr Β· 2020
0.90
4
The ERCC1 and ERCC4 (XPF) genes and gene products.
PMID: 26074087
Gene Β· 2015
0.90
5
Clinical Perspectives of ERCC1 in Bladder Cancer.
PMID: 33266377
Int J Mol Sci Β· 2020
0.82