This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, bi
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 factor C subunit 1 (Activator 1 140 kDa subunit) (A1 140 kDa subunit) (Activator 1 large subunit) (Activator 1 subunit 1) (DNA-binding protein PO-GA) (Replication factor C 140 kDa subunit) (RF-C 140 kDa subunit) (RFC140) (Replication factor C
Protein function
Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA
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
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
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","Base excision repair","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 Homologous Recombination (HRR)","Translesion synthesis by REV1","Translesion synthesis by POLK","Translesion synthesis by POLI","Recognition of DNA damage by PCNA-containing replication complex"]
["DNA replication","Base excision repair","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 Homologous Recombination (HRR)","Translesion synthesis by REV1","Translesion synthesis by POLK","Translesion synthesis by POLI","Recognition of DNA damage by PCNA-containing replication complex"]
["DNA replication","Base excision repair","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 Homologous Recombination (HRR)","Translesion synthesis by REV1","Translesion synthesis by POLK","Translesion synthesis by POLI","Recognition of DNA damage by PCNA-containing replication complex"]
["DNA replication","Base excision repair","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 Homologous Recombination (HRR)","Translesion synthesis by REV1","Translesion synthesis by POLK","Translesion synthesis by POLI","Recognition of DNA damage by PCNA-containing replication complex"]
["DNA replication","Base excision repair","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 Homologous Recombination (HRR)","Translesion synthesis by REV1","Translesion synthesis by POLK","Translesion synthesis by POLI","Recognition of DNA damage by PCNA-containing replication complex"]
1
["CTD (Colonic neoplasms)"]
Diseases Linked via Similar GenesDiseases curated for genes most similar to RFC1 (see Related Genes above), that are NOT already directly curated for RFC1 itself -- a lead worth checking, not a confirmed association.