Homo sapiens Protein: RFC2
Summary
InnateDB Protein IDBP-21124.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RFC2
Protein Name replication factor C (activator 1) 2, 40kDa
Synonyms RFC40;
Species Homo sapiens
Ensembl Protein ENSP00000275627
InnateDB Gene IDBG-21120 (RFC2)
Protein Structure
UniProt Annotation
Function 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 activator 1. This subunit binds ATP (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations Note=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.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 59 [view]
Protein-Protein 57 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016851 magnesium chelatase activity
GO:0017111 nucleoside-triphosphatase activity
Biological Process
GO:0000278 mitotic cell cycle
GO:0000722 telomere maintenance via recombination
GO:0000723 telomere maintenance
GO:0006260 DNA replication
GO:0006271 DNA strand elongation involved in DNA replication
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006289 nucleotide-excision repair
GO:0006297 nucleotide-excision repair, DNA gap filling
GO:0015979 photosynthesis
GO:0015995 chlorophyll biosynthetic process
GO:0032201 telomere maintenance via semi-conservative replication
Cellular Component
GO:0005654 nucleoplasm
GO:0005663 DNA replication factor C complex
Protein Structure and Domains
PDB ID
InterPro IPR000523 Magnesium chelatase, ChlI subunit
IPR008921 DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal
IPR013748 Replication factor C, C-terminal domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF01078
PF08542
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P35250
PhosphoSite PhosphoSite-P35250
TrEMBL Q75MT5
UniProt Splice Variant
Entrez Gene 5982
UniGene Hs.647062
RefSeq NP_002905
HUGO HGNC:9970
OMIM 600404
CCDS CCDS5567
HPRD 02675
IMGT
EMBL AB451243 AC005081 AF045555 AF483622 BC002813 BT007058 CH471200 M87338
GenPept AAB09786 AAC04860 AAH02813 AAL82503 AAP22334 AAP22335 AAP35707 BAG70057 EAW69605 EAW69606 EAW69607 EAW69608