RFC2

Protein identityUniProt · HPA

UniProt accession

P35250

Gene

RFC2

Ensembl

ENSG00000049541

Chromosome

7

Canonical length

354 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

354 residues, UniProt reviewed canonical sequence.

>P35250|RFC2
     1  MEVEAVCGGA GEVEAQDSDP APAFSKAPGS AGHYELPWVE KYRPVKLNEI VGNEDTVSRL
    61  EVFAREGNVP NIIIAGPPGT GKTTSILCLA RALLGPALKD AMLELNASND RGIDVVRNKI
   121  KMFAQQKVTL PKGRHKIIIL DEADSMTDGA QQALRRTMEI YSKTTRFALA CNASDKIIEP
   181  IQSRCAVLRY TKLTDAQILT RLMNVIEKER VPYTDDGLEA IIFTAQGDMR QALNNLQSTF
   241  SGFGFINSEN VFKVCDEPHP LLVKEMIQHC VNANIDEAYK ILAHLWHLGY SPEDIIGNIF
   301  RVCKTFQMAE YLKLEFIKEI GYTHMKIAEG VNSLLQMAGL LARLCQKTMA PVAS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RFC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

29 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.98

gnomAD pLI

0

gnomAD missense Z

1.15

DepMap mean gene effect

-1.48

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• DNA repair
• DNA-templated DNA replication
• positive regulation of DNA-directed DNA polymerase activity

Molecular functions

• ATP binding
• ATP hydrolysis activity
• DNA binding
• enzyme binding

Cellular components

• Ctf18 RFC-like complex
• DNA replication factor C complex
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• AAA+ ATPase domain
• ATPase, AAA-type, core
• DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal
• Replication factor C, C-terminal
• P-loop containing nucleoside triphosphate hydrolase
• Replication factor C, lid domain
• DNA Replication and Repair Clamp Loader Complex
• ATPase family associated with various cellular activities (AAA)
• Replication factor C C-terminal domain

KeywordsUniProt

• Acetylation
• ATP-binding
• DNA replication
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• Williams-Beuren syndrome

InteractionsUniProt · HPA

Protein binding partners of RFC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DDX11
• PCNA
• PRKAR1A
• RAD17
• ATAD5
• PARP1
• RFC1
• RFC4
• RFC5