InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: RFC2

Summary

InnateDB Gene

IDBG-21120.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RFC2

Gene Name

replication factor C (activator 1) 2, 40kDa

Synonyms

RFC40

Species

Homo sapiens

Ensembl Gene

ENSG00000049541

Encoded Proteins

IDBP-21122

replication factor C (activator 1) 2, 40kDa

IDBP-21124

replication factor C (activator 1) 2, 40kDa

IDBP-478867

replication factor C (activator 1) 2, 40kDa

IDBP-482988

replication factor C (activator 1) 2, 40kDa

IDBP-479347

replication factor C (activator 1) 2, 40kDa

IDBP-484431

replication factor C (activator 1) 2, 40kDa

IDBP-476407

replication factor C (activator 1) 2, 40kDa

IDBP-477496

replication factor C (activator 1) 2, 40kDa

IDBP-474083

replication factor C (activator 1) 2, 40kDa

IDBP-474786

replication factor C (activator 1) 2, 40kDa

IDBP-482179

replication factor C (activator 1) 2, 40kDa

IDBP-811576

replication factor C (activator 1) 2, 40kDa

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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). RFC, also called activator 1, is a protein complex consisting of five distinct subunits of 145, 40, 38, 37, and 36.5 kD. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP. Deletion of this gene has been associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 7:74231499-74254458

Strand

Reverse strand

Band

q11.23

Transcripts

ENST00000055077	ENSP00000055077
ENST00000352131	ENSP00000275627
ENST00000493156	ENSP00000420563
ENST00000485545	ENSP00000419320
ENST00000497430	ENSP00000420404
ENST00000470266	ENSP00000420513
ENST00000494019	ENSP00000419341
ENST00000480432	ENSP00000418899
ENST00000479105	ENSP00000420392
ENST00000491206	ENSP00000420731
ENST00000463194	ENSP00000419827
ENST00000473493
ENST00000621097	ENSP00000479768

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