RPA4: Replication Protein A4, a Subunit of the RPA Complex
A comprehensive overview of RPA4, its genomic context, expression, and potential role in DNA replication and repair.
Gene Information Card
| Symbol | RPA4 |
|---|---|
| Full Name | Replication Protein A4 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq21.33 |
| NCBI Gene ID | 29935 ncbi.nlm.nih.gov/gene/29935 |
| Ensembl ID | ENSG00000101981 |
| UniProt ID | Q9BWG4 |
| OMIM ID | 300510 |
| HGNC ID | 10291 |
| Aliases | RPA4, REPA4 |
Description
RPA4 encodes replication protein A4, a subunit of the heterotrimeric replication protein A (RPA) complex. RPA is essential for DNA replication, repair, and recombination by binding single-stranded DNA and coordinating the recruitment of other proteins. RPA4 is a paralog of RPA2 and can substitute for RPA2 in the RPA complex, potentially modulating its activity. The gene is located on chromosome X and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No direct evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Lymph node | 3.1 | Low |
| Spleen | 2.8 | Low |
| Bone marrow | 2.5 | Low |
| Other tissues | <2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.5 | Low expression |
| HeLa | 2.9 | Low expression |
| K562 | 2.1 | Low expression |
| A549 | 1.8 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations documented in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data:
Gene Ontology (GO)
| • DNA binding | • single-stranded DNA binding |
| • protein heterodimerization activity | • DNA replication |
| • DNA repair | • nucleotide-excision repair |
| • cellular response to DNA damage stimulus |
Pathways
• DNA replication
• Homologous recombination
• Nucleotide excision repair
• Mismatch repair
Protein Summary
Replication protein A4 (RPA4) is a 32 kDa protein that forms a stable complex with RPA1 and RPA3, substituting for RPA2. The RPA complex binds single-stranded DNA with high affinity and is involved in DNA replication, repair, and recombination. RPA4 is expressed at low levels in a few tissues, primarily testis and lymphoid organs. Its function may be redundant with RPA2, but it could play a specialized role in certain cellular contexts.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPA4 Knockout HEK293 Cell Line | EDJ-KQ9090 | Human | 29935 | Details Get a Quote |
| RPA4 Knockout HeLa Cell Line | EDJ-KQ56124 | Human | 29935 | Details Get a Quote |
| RPA4 Knockout A-549 Cell Line | EDJ-KQ64610 | Human | 29935 | Details Get a Quote |
| RPA4 Knockout HCT 116 Cell Line | EDJ-KQ73062 | Human | 29935 | Details Get a Quote |