RFC3 Gene - Replication Factor C Subunit 3
Essential component of the DNA replication and repair machinery
Gene Information Card
| Symbol | RFC3 |
|---|---|
| Full Name | Replication Factor C Subunit 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q32.3 |
| NCBI Gene ID | 5983 ncbi.nlm.nih.gov/gene/5983 |
| Ensembl ID | ENSG00000133119 |
| UniProt ID | P40938 |
| OMIM ID | 600405 |
| HGNC ID | 9971 |
| Aliases | RFC38, RFC4, MGC5276 |
Description
RFC3 encodes the 38 kDa subunit of replication factor C (RFC), a five-subunit DNA polymerase accessory protein. RFC loads the proliferating cell nuclear antigen (PCNA) onto DNA during replication and repair, enabling processive DNA synthesis. The RFC3 subunit is essential for complex assembly and ATPase activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered RFC3 expression may disrupt DNA replication fidelity, promoting genomic instability. | COSMIC, PubMed |
| Breast Cancer | Overexpression of RFC3 is associated with poor prognosis and tumor progression. | COSMIC, PubMed |
| Lung Cancer | RFC3 upregulation correlates with increased cell proliferation and invasion. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 10.2 | Medium |
| Lymph Node | 8.9 | Medium |
| Brain | 4.1 | Low |
| Liver | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| A549 | 11.7 | Lung cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 8.2 | 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% | Likely loss of start codon, predicted loss of function |
| c.112C>T (p.Arg38Trp) | Missense | <0.01% | Unknown significance, reported in ClinVar |
| c.421G>A (p.Glu141Lys) | Missense | <0.01% | Unknown significance, reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants near the ATP-binding domain may impair RFC complex assembly and PCNA loading.
Gain of Function (GOF)
Not well characterized; overexpression in tumors suggests possible oncogenic gain-of-function via enhanced replication.
Dominant Negative (DN)
No dominant-negative mutations currently documented in RFC3.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication | • DNA repair |
| • DNA clamp loader activity | • ATP binding |
| • nucleus | • protein binding |
Pathways
• DNA replication (Reactome: R-HSA-69306)
• PCNA loading (Reactome: R-HSA-68462)
• Translesion synthesis (Reactome: R-HSA-110313)
Protein Summary
RFC3 is a 38 kDa subunit of the heteropentameric replication factor C complex. It contains an ATP-binding domain and is required for RFC ATPase activity. The protein localizes to the nucleus and interacts with PCNA and other RFC subunits to facilitate clamp loading during DNA replication and repair. Overexpression in multiple cancers suggests a role in tumorigenesis.
Related Services
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|---|---|---|---|---|
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