RFC5 Gene - Replication Factor C Subunit 5
Essential component of the DNA replication and repair machinery
Gene Information Card
| Symbol | RFC5 |
|---|---|
| Full Name | Replication factor C subunit 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.23 |
| NCBI Gene ID | 5985 ncbi.nlm.nih.gov/gene/5985 |
| Ensembl ID | ENSG00000111445 |
| UniProt ID | P40937 |
| OMIM ID | 600407 |
| HGNC ID | 9972 |
| Aliases | RFC36, RFC38, A1_1, MGC1156 |
Description
RFC5 encodes the 36-38 kDa subunit of replication factor C (RFC), a five-subunit DNA polymerase accessory protein complex. RFC loads proliferating cell nuclear antigen (PCNA) onto DNA during replication and repair, enabling processive DNA synthesis. The RFC5 subunit is essential for complex assembly and ATPase activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RFC5 expression or mutation may disrupt DNA replication fidelity and repair, contributing to genomic instability | COSMIC; multiple studies |
| Mucolipidosis type IV (potential modifier) | RFC5 variants may influence cellular stress responses, though direct causal link not established | ClinVar; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.2 | High |
| Bone marrow | 12.5 | Medium |
| Lymph node | 11.8 | Medium |
| Brain | 9.4 | Medium |
| Liver | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| K562 | 13.8 | Leukemia cell line |
| A549 | 12.1 | Lung cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; uncertain significance |
| c.112C>T (p.Arg38Trp) | Missense | <0.01% | Unknown effect; rare population variant |
| c.487G>A (p.Glu163Lys) | Missense | <0.01% | Reported in COSMIC; possible functional impact |
Mutation functional classification
Loss of Function (LOF)
Complete loss of RFC5 is likely lethal at cellular level due to essential role in DNA replication.
Gain of Function (GOF)
Not reported; gain-of-function mutations are not characteristic for RFC5.
Dominant Negative (DN)
Hypothetical; mutations disrupting RFC complex assembly could exert dominant-negative effects, but no confirmed examples.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication | • DNA repair |
| • DNA clamp loader activity | • ATP binding |
| • nucleoplasm | • PCNA complex |
Pathways
• DNA replication (KEGG: hsa03030)
• Mismatch repair (KEGG: hsa03430)
• Nucleotide excision repair (KEGG: hsa03420)
• Cell cycle - G1/S transition
Protein Summary
RFC5 is a 340-amino acid protein (36.8 kDa) that forms part of the heteropentameric RFC complex. It contains an ATP-binding domain and is required for RFC complex stability and PCNA loading. The protein is highly conserved across eukaryotes and is expressed ubiquitously, with highest levels in proliferating tissues.
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