RFC1

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.

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.

None

The disease is caused by variants affecting the gene represented in this entry. The disease is caused by intronic AAGGG repeat expansions in intron 2.

Belongs to the activator 1 large subunit family.

Wide tissue distribution. Undetectable in placental tissue.

• Nucleus

RFC140, RFC1, Replication factor C subunit 1, Activator 1 140 kDa subunit, Activator 1 large subunit, Activator 1 subunit 1, DNA-binding protein PO-GA, Replication factor C 140 kDa subunit, Replication factor C large subunit, A1 140 kDa subunit, RF-C 140 kDa subunit

• entrezGene:5981
• omim:102579
• swissprot:P35251

Proteins

Oncology

128255Da