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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
Corresponding disease
CANVAS cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Location 4p14      Physical location : 39.289.075 - 39.367.995
Synonym name
  • activator 1 subunit 1
  • replication factor C 140 kDa subunit
  • DNA-binding protein PO-GA
  • MHC binding factor, beta
  • Synonym symbol(s) RECC1, A1, RFC, PO-GA, RFC140, MHCBFB, RFC40
    DNA
    TYPE functioning gene
    STRUCTURE 78.93 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    KIAA1239 4p15.1-p14 KIAA1239 protein LOC389205 4 similar to LINE-1 REVERSE TRANSCRIPTASE HOMOLOG FLJ11017 4p14 hypothetical protein FLJ11017 PGM2 4p14-q12 phosphoglucomutase 2 PTTG2 4p12 pituitary tumor-transforming 2 LOC338096 4p14 proteasome activator subunit 2 pseudogene MRPS33P2 4p14 mitochondrial ribosomal protein S33 pseudogene 2 TBC1D1 4p14 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 FLJ13197 4p14 hypothetical protein FLJ13197 KLF3 4p14 Kruppel-like factor 3 (basic) TLR10 4p14 toll-like receptor 10 TLR1 4p14 toll-like receptor 1 TLR6 4p16.1 toll-like receptor 6 LOC92689 4p14 hypothetical protein BC001096 FLJ23235 4p14 hypothetical protein FLJ23235 KLHL5 4p15.1-p13 kelch-like 5 (Drosophila) PWDMP 4p14 WD repeat membrane protein PWDMP RFC1 4p14-p13 replication factor C (activator 1) 1, 145kDa LOC152831 4p14 klotho beta like RPL9 4p13 ribosomal protein L9 LIAS 4p14 lipoic acid synthetase LOC391645 4 similar to WD repeat domain 5; Bmp2-induced gene UGDH 4p15.1 UDP-glucose dehydrogenase LOC201895 4p14 hypothetical protein LOC201895 HIP2 4p14 huntingtin interacting protein 2 LOC391646 4 similar to chromosome 6 open reading frame 46; Em:AF134726.1 KIAA0648 4p15.1-p11 similar to chromosome 6 open reading frame 46; Em:AF134726.1 PABPCP1 4p14 poly(A) binding protein, cytoplasmic, pseudogene 1 LOC391647 4 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC344967 4p14 similar to cytosolic acyl coenzyme A thioester hydrolase N4BP2 4p14 Nedd4 binding protein 2 ARHH 4p13 ras homolog gene family, member H LOC339997 4p14 hypothetical LOC339997 CHRNA9 4p15.1-p14 cholinergic receptor, nicotinic, alpha polypeptide 9 FLJ20273 4p13-p12 RNA-binding protein FLJ14001 4p14 hypothetical protein FLJ14001 APBB2 4p15.1-p14 amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like) UCHL1 4p15.1-p14 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) KIAA1102 4p13-p11 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 polyA site 4896 128.3 1147 - 1996 8692848
    25 polyA site 4899 - 1148 - 1996 8692848
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain    
    Reproductivefemale systemovary  highly
     male systemprostate   
    Respiratorylung   lowly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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