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FLASH GENE
Symbol RFC1 contributors: mct - updated : 29-03-2018
HGNC name replication factor C (activator 1) 1, 145kDa
HGNC id 9969
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a PCNA binding region
  • an ATP binding region
  • a domain DEAD/H box (Asp-Glu-Ala-Asp/His)
  • a N terminal DNA binding domain
  • one BRCT domain, that possesses a large basic patch on one face, which includes residues that are structurally conserved and ligate the phosphate in phosphopeptide binding BRCT domains
  • two distinct transcriptional repression domains
  • nuclear translocation signal
    • conjugated PhosphoP
    mono polymer heteromer , pentamer
    HOMOLOGY
    interspecies homolog to murine Recc1
    homolog to Drosophila Gnf1
    homolog to C.elegans Rfc-1
    Homologene
    FAMILY activator 1 140 kDa subunit family
    CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • playing a role in telomere stability
  • activator of DNA polymerases
  • promoting coordinated synthesis of both strands
  • ATPase
  • RFC1 is a critical partner with FEN1 for the processing of eukaryotic Okazaki fragments
  • CHTF18-RFC1 has multiple interactions with POLE that promote polymorphic modulation of DNA synthesis
  • CHTF8-RFC1 has additional important functions in preserving genome stability, besides its role in sister chromatid cohesion
    • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, replication
    nucleotide, repair
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • components of complex A-1,DNA polymerase accessory protein "clamp loader", ATP dependent, required to assemble PCNA and polymerase delta on the DNA template
  • large subunit of replication factor C
  • heteropentamer of subunits 140/145,40,38,37 and 36.5 kDA
    • INTERACTION
    DNA
  • binding to the 3'end of primers
  • binding to GA rich DNA sequences
  • binding to simple or double stranded DNA
    • RNA
    small molecule metal binding, nucleotide,
  • zinc Zn2+
  • ATP
    • protein
  • binding to C terminus of PCNA
  • binding to retinoblastoma tumor suppressor
  • binding to C/EBP alpha transcription factor
  • binding to HDAC1
  • CHTF8-RFC1, stimulates DNA polymerase eta activity
  • (RFC1) complex stimulates the nuclease activity of human FEN1 in an ATP-independent manner
  • interaction between LIG1 and RFC1 is critical for DNA replication and repair
  • association of CHTF8-RFC1 with POLE at defective replication forks is a key step in activation of the S-phase checkpoint
  • CHTF8-RFC1 appears to be involved in leading-strand DNA synthesis through its interaction with POLE, and can load PCNA onto DNA when POLE is not in DNA synthesis mode to restore DNA synthesis (
  • CHTF8-RFC1 is an alternative PCNA loader which plays important but poorly understood roles in multiple DNA replication-associated processes
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CANVAS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • large subunit (RFC1) of replication factor C is cleaved in HGPS cells, leading to the production of a truncated RFC1 of ~ 75 kDa, and unique truncated form of RFC1 may serve as a potential marker for Hutchinson-Gilford progeria syndrome (HGPS) (HGPS)
    • Therapy target
    ANIMAL & CELL MODELS