RFC1

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, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

Full Name

Replication Factor C Subunit 1

Function

The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as well as DNA replication and/or repair. Can bind single- or double-stranded DNA.1 Publication
Interacts with C-terminus of PCNA. 5' phosphate residue is required for binding of the N-terminal DNA-binding domain to duplex DNA, suggesting a role in recognition of non-primer template DNA structures during replication and/or repair.

Biological Process

Biological Process DNA clamp unloadingManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process DNA repairIEA:InterPro
Biological Process DNA-templated DNA replicationManual Assertion Based On ExperimentTAS:ProtInc
Biological Process negative regulation of transcription by RNA polymerase IIIEA:Ensembl
Biological Process positive regulation of transcription, DNA-templatedIEA:Ensembl
Biological Process telomere maintenance via telomeraseManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Nucleus

Involvement in disease

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS):
An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length-dependent sensory deficit.