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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.
RPA1
replication protein A1
Chromosome 17 Β· 17p13.3
NCBI Gene: 6117Ensembl: ENSG00000132383.13HGNC: HGNC:10289UniProt: P27694
525PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous RecombinationHub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein localization to site of double-strand breakchromosome, telomeric regionsite of DNA damagenucleoplasmpulmonary fibrosis and/or bone marrow failure, telomere-related, 6basal cell carcinomamelanocytic nevusnon-small cell lung adenocarcinoma
✦AI Summary

RPA1 is the largest subunit of the replication protein A (RPA) complex, a single-stranded DNA-binding protein essential for DNA replication and damage response 1. As part of the heterotrimeric RPA complex, RPA1 binds and stabilizes single-stranded DNA intermediates formed during replication or DNA stress, preventing reannealing while recruiting proteins involved in DNA metabolism 2. RPA1 plays critical roles in homologous recombination repair by recruiting RAD51 and facilitating DNA end resection, and in nucleotide excision repair through XPA/XPG recruitment 2. The protein also regulates ATR kinase activation via ATRIP recruitment, controlling DNA damage checkpoint responses 3. RPA1 maintains adequate nuclear RPA pools to prevent replication catastrophe when ATR suppresses unscheduled origin firing 3. Additionally, RPA1 participates in telomere maintenance 1. Post-translational modifications regulate RPA1 function: lactylation enhances single-stranded DNA and MRN complex binding to promote homologous recombination 4, while ubiquitination by RNF213 inhibits HR repair 5. RPA1 deficiency confers hypersensitivity to PARP inhibitors, demonstrating synthetic lethality relevant to cancer therapy 6. Germline RPA1 gain-of-function mutations cause telomere biology disorders with bone marrow failure and pulmonary fibrosis, while enrichment of damaging variants occurs in pediatric cancers 17.

Sources cited
1
RPA1 gain-of-function mutations cause short telomere syndrome with bone marrow failure and pulmonary fibrosis; RPA1 role in telomere maintenance
PMID: 34767620
2
RPA1 as part of canonical RPA complex binds single-stranded DNA; RPA1 role in DNA repair and suppression of disease-associated repeat expansions
PMID: 37827155
3
RPA nuclear pool sufficiency prevents replication catastrophe; RPA requirement to shield replication forks from breakage during replication stress
PMID: 24267891
4
RPA1 lactylation enhances binding to single-stranded DNA and MRN complexes, promoting homologous recombination
PMID: 41271679
5
RNF213 ubiquitinates RPA1 to inhibit homologous recombination repair and DNA end resection
PMID: 41120267
6
RPA1 deficiency confers sensitivity to PARP inhibitors; RPA1 involvement in homologous recombination deficiency and BRCAness
PMID: 37057596
7
Germline RPA1 variants enriched in pediatric cancer cohorts; association with telomere biology disorders and malignancy predisposition
PMID: 37869077
Disease Associationsβ“˜21
pulmonary fibrosis and/or bone marrow failure, telomere-related, 6Open Targets
0.57Moderate
basal cell carcinomaOpen Targets
0.33Weak
melanocytic nevusOpen Targets
0.27Weak
non-small cell lung adenocarcinomaOpen Targets
0.26Weak
cancerOpen Targets
0.25Weak
cutaneous melanomaOpen Targets
0.23Weak
prostate carcinomaOpen Targets
0.22Weak
lung cancerOpen Targets
0.22Weak
melanomaOpen Targets
0.21Weak
skin cancerOpen Targets
0.21Weak
bronchial neoplasmOpen Targets
0.19Weak
bronchus cancerOpen Targets
0.19Weak
estrogen-receptor positive breast cancerOpen Targets
0.10Weak
nasopharyngeal carcinomaOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
breast neoplasmOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
systemic lupus erythematosusOpen Targets
0.08Suggestive
Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 6UniProt
Pathogenic Variants2
NM_002945.5(RPA1):c.718G>A (p.Glu240Lys)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
β˜†β˜†β˜†β˜†2023β†’ Residue 240
NM_002945.5(RPA1):c.680T>C (p.Val227Ala)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
β˜†β˜†β˜†β˜†2023β†’ Residue 227
View on ClinVar β†—
Related Genes
TP53Protein interaction100%FANCMProtein interaction100%SSBP1Protein interaction100%RMI2Protein interaction100%CLSPNProtein interaction100%TOP3AProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
83%
Ovary
63%
Bone Marrow
52%
Lung
44%
Liver
31%
Gene Interaction Network
Click a node to explore
RPA1TP53FANCMSSBP1RMI2CLSPNTOP3A
PROTEIN STRUCTURE
Preparing viewer…
PDB4O0A Β· 1.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.50–0.82]
RankingsWhere RPA1 stands among ~20K protein-coding genes
  • #493of 20,598
    Most Researched525 Β· top 5%
  • #4,194of 5,498
    Most Pathogenic Variants2
  • #6,920of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedRPA1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
BRCAness, Homologous Recombination Deficiencies, and Synthetic Lethality.
PMID: 37057596
Cancer Res Β· 2023
1.00
2
Global crotonylome reveals CDYL-regulated RPA1 crotonylation in homologous recombination-mediated DNA repair.
PMID: 32201722
Sci Adv Β· 2020
0.90
3
RPA exhaustion activates SLFN11 to eliminate cells with heightened replication stress.
PMID: 41514018
Nat Cell Biol Β· 2026
0.84
4
Cellular functions of human RPA1. Multiple roles of domains in replication, repair, and checkpoints.
PMID: 18469000
J Biol Chem Β· 2008
0.82
5
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
PMID: 37827155
Cell Β· 2023
0.80