RFC1 gene

replication factor C subunit 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

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.

From NCBI Gene:

  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

From UniProt:

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. [MIM:614575]

Cytogenetic Location: 4p14, which is the short (p) arm of chromosome 4 at position 14

Molecular Location: base pairs 39,287,456 to 39,366,381 on chromosome 4 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 4p14, which is the short (p) arm of chromosome 4 at position 14
  • A1
  • CANVAS
  • MHCBFB
  • PO-GA
  • RECC1
  • RFC
  • RFC140