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MGP002613

UniProt Annotations

Entry Information
Gene Namereplication factor C (activator 1) 2, 40kDa
Protein EntryRFC2_HUMAN
UniProt IDP35250
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P35250-1; Sequence=Displayed; Name=2; IsoId=P35250-2; Sequence=VSP_005660; Note=No experimental confirmation available.;
DiseaseNote=RFC2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
FunctionThe elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit binds ATP (By similarity). {ECO:0000250}.
InteractionP10644:PRKAR1A; NbExp=7; IntAct=EBI-476409, EBI-476431; P35251:RFC1; NbExp=4; IntAct=EBI-476409, EBI-476616; P35249:RFC4; NbExp=8; IntAct=EBI-476409, EBI-476655;
SimilarityBelongs to the activator 1 small subunits family. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000305}.
SubunitHeterotetramer of subunits RFC2, RFC3, RFC4 and RFC5 that can form a complex either with RFC1 or with RAD17. The former interacts with PCNA in the presence of ATP, while the latter has ATPase activity but is not stimulated by PCNA. RFC2 also interacts with PRKAR1A; the complex may be involved in cell survival. {ECO:0000269|PubMed:15655353}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rfc2/";
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