This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication,
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Replication protein A 70 kDa DNA-binding subunit (RP-A p70) (Replication factor A protein 1) (RF-A protein 1) (Single-stranded DNA-binding protein) [Cleaved into: Replication protein A 70 kDa DNA-binding subunit, N-terminally processed]
Protein function
As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activ
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name
Clinical Significance
dbSNP ID
RCV Accession
Evidence Score
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["DNA replication","Nucleotide excision repair","Mismatch repair","Homologous recombination","Fanconi anemia pathway","HSF1 activation","Formation of Incision Complex in GG-NER","Dual Incision in GG-NER","Regulation of HSF1-mediated heat shock response","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Single Strand Annealing (SSA)"]
["DNA replication","Nucleotide excision repair","Mismatch repair","Homologous recombination","Fanconi anemia pathway","HSF1 activation","Formation of Incision Complex in GG-NER","Dual Incision in GG-NER","Regulation of HSF1-mediated heat shock response","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Single Strand Annealing (SSA)"]
["DNA replication","Nucleotide excision repair","Mismatch repair","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Single Strand Annealing (SSA)","HDR through Homologous Recombination (HRR)","Processing of DNA double-strand break ends","Presynaptic phase of homologous DNA pairing and strand exchange","Regulation of TP53 Activity through Phosphorylation","G2\/M DNA damage checkpoint"]
["DNA replication","Nucleotide excision repair","Mismatch repair","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Single Strand Annealing (SSA)","HDR through Homologous Recombination (HRR)","Processing of DNA double-strand break ends","Presynaptic phase of homologous DNA pairing and strand exchange","Regulation of TP53 Activity through Phosphorylation","G2\/M DNA damage checkpoint"]
["DNA replication","Nucleotide excision repair","Mismatch repair","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Single Strand Annealing (SSA)","HDR through Homologous Recombination (HRR)","Processing of DNA double-strand break ends","Presynaptic phase of homologous DNA pairing and strand exchange","Regulation of TP53 Activity through Phosphorylation","G2\/M DNA damage checkpoint"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to RPA1 (see Related Genes above), that are NOT already directly curated for RPA1 itself -- a lead worth checking, not a confirmed association.