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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002913 25 polyA site 4896 NP_002904 128.3 1147 - 1996 8692848 NM_001204747 25 polyA site 4899 NP_001191676 - 1148 - 1996 8692848

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Nervous brain         Reproductive female system ovary     highly   male system prostate       Respiratory lung       lowly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Muscular striatum skeletal

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