RFC1 (replication factor C subunit 1)

2003-02-01  

Identity

HGNC
LOCATION
4p14
LOCUSID
ALIAS
A1,CANVAS,MHCBFB,PO-GA,RECC1,RFC,RFC140
FUSION GENES

Other Information

Locus ID:

NCBI: 5981
MIM: 102579
HGNC: 9969
Ensembl: ENSG00000035928

Variants:

dbSNP: 5981
ClinVar: 5981
TCGA: ENSG00000035928
COSMIC: RFC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000035928ENST00000349703P35251
ENSG00000035928ENST00000381897P35251
ENSG00000035928ENST00000503784D6RAD2
ENSG00000035928ENST00000504554H0Y8U4
ENSG00000035928ENST00000512275E0CX09
ENSG00000035928ENST00000514572H0Y9P8
ENSG00000035928ENST00000639695A0A1W2PP02

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
DNA replicationKEGGko03030
Nucleotide excision repairKEGGko03420
Mismatch repairKEGGko03430
DNA replicationKEGGhsa03030
Nucleotide excision repairKEGGhsa03420
Mismatch repairKEGGhsa03430
RF-C complexKEGGhsa_M00289
BRCA1-associated genome surveillance complex (BASC)KEGGhsa_M00295
RF-C complexKEGGM00289
BRCA1-associated genome surveillance complex (BASC)KEGGM00295
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
S PhaseREACTOMER-HSA-69242
Synthesis of DNAREACTOMER-HSA-69239
DNA strand elongationREACTOMER-HSA-69190
Leading Strand SynthesisREACTOMER-HSA-69109
Polymerase switchingREACTOMER-HSA-69091
Lagging Strand SynthesisREACTOMER-HSA-69186
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Extension of TelomeresREACTOMER-HSA-180786
Telomere C-strand (Lagging Strand) SynthesisREACTOMER-HSA-174417
Polymerase switching on the C-strand of the telomereREACTOMER-HSA-174411
DNA ReplicationREACTOMER-HSA-69306
DNA RepairREACTOMER-HSA-73894
Base Excision RepairREACTOMER-HSA-73884
Resolution of Abasic Sites (AP sites)REACTOMER-HSA-73933
Resolution of AP sites via the multiple-nucleotide patch replacement pathwayREACTOMER-HSA-110373
PCNA-Dependent Long Patch Base Excision RepairREACTOMER-HSA-5651801
DNA Damage BypassREACTOMER-HSA-73893
Recognition of DNA damage by PCNA-containing replication complexREACTOMER-HSA-110314
Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA templateREACTOMER-HSA-110313
Translesion synthesis by REV1REACTOMER-HSA-110312
Translesion Synthesis by POLHREACTOMER-HSA-110320
Translesion synthesis by POLKREACTOMER-HSA-5655862
Translesion synthesis by POLIREACTOMER-HSA-5656121
Termination of translesion DNA synthesisREACTOMER-HSA-5656169
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
HDR through Homologous Recombination (HRR)REACTOMER-HSA-5685942
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
Dual Incision in GG-NERREACTOMER-HSA-5696400
Gap-filling DNA repair synthesis and ligation in GG-NERREACTOMER-HSA-5696397
Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
Dual incision in TC-NERREACTOMER-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NERREACTOMER-HSA-6782210

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
199566352009Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies.27
207134492010Replication factor C recruits DNA polymerase delta to sites of nucleotide excision repair but is not required for PCNA recruitment.24
250712162014Kaposi's sarcoma-associated herpesvirus LANA recruits the DNA polymerase clamp loader to mediate efficient replication and virus persistence.23
309269722019Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.19
200811982010Structure of the DNA-bound BRCA1 C-terminal region from human replication factor C p140 and model of the protein-DNA complex.17
218811182011Genetic variants and susceptibility to neurological complications following West Nile virus infection.17
192234682009Phosphorylation of human DNA ligase I regulates its interaction with replication factor C and its participation in DNA replication and DNA repair.14
197144622010Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.14
175451662007A second proliferating cell nuclear antigen loader complex, Ctf18-replication factor C, stimulates DNA polymerase eta activity.12

Citation

Dessen P

RFC1 (replication factor C subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42087/rfc1