RAD51AP1
RAD51 Associated Protein 1: A Key Regulator of Homologous Recombination and DNA Repair
Gene Information Card
| Symbol | RAD51AP1 |
|---|---|
| Full Name | RAD51 Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.33 |
| NCBI Gene ID | 10635 ncbi.nlm.nih.gov/gene/10635 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q96C01 |
| OMIM ID | 603502 |
| HGNC ID | 9826 |
| Aliases | PIR51, RAD51AP1 |
Description
RAD51AP1 (RAD51 Associated Protein 1) encodes a protein that interacts with RAD51, a central recombinase in homologous recombination (HR) DNA repair. RAD51AP1 stimulates RAD51-mediated D-loop formation and strand exchange, essential for accurate repair of DNA double-strand breaks. The gene is located on chromosome 12p13.33 and is expressed in multiple tissues. Overexpression is observed in various cancers, while loss-of-function mutations impair HR and increase genomic instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of RAD51AP1 enhances HR repair, promoting resistance to DNA-damaging chemotherapies. | PMID: 22962325; COSMIC |
| Ovarian Cancer | Increased RAD51AP1 expression correlates with poor prognosis and platinum resistance. | PMID: 25964223; COSMIC |
| Fanconi Anemia | RAD51AP1 deficiency impairs interstrand crosslink repair, contributing to FA pathway dysfunction. | PMID: 26945685 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone Marrow | 15.2 | Medium |
| Breast | 8.7 | Medium |
| Ovary | 6.3 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast Cancer) | 12.4 | High expression |
| HeLa (Cervical Cancer) | 9.8 | Moderate expression |
| A549 (Lung Cancer) | 4.2 | Low expression |
| K562 (Leukemia) | 18.1 | Very high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | 0.2% | Reduced RAD51 binding affinity |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.1% | Impaired D-loop formation |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt RAD51 binding or catalytic stimulation (e.g., p.Arg109Trp) lead to impaired HR repair and genomic instability.
Gain of Function (GOF)
Gene amplification or overexpression in cancers enhances HR activity, conferring resistance to DNA-damaging agents.
Dominant Negative (DN)
Not well characterized; some truncating mutants may interfere with wild-type RAD51AP1 function.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • homologous recombination |
| • double-strand break repair | • RAD51 binding |
| • nucleus | • protein homodimerization activity |
Pathways
• Homologous recombination (KEGG: hsa03440)
• Fanconi anemia pathway (KEGG: hsa03460)
• DNA double-strand break repair
Protein Summary
RAD51AP1 is a 352-amino acid protein that localizes to the nucleus and forms homodimers. It binds directly to RAD51 and stimulates its recombinase activity by promoting D-loop formation and stabilizing RAD51-ssDNA filaments. The protein contains a conserved RAD51-binding domain and a C-terminal region required for DNA binding. Post-translational modifications, including phosphorylation, regulate its activity during the cell cycle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD51AP1 Knockout HEK293 Cell Line | EDJ-KQ7115 | Human | 10635 | Details Get a Quote |
| RAD51AP1 Knockout A-549 Cell Line | EDJ-KQ31986 | Human | 10635 | Details Get a Quote |
| RAD51AP1 Knockout HCT 116 Cell Line | EDJ-KQ31987 | Human | 10635 | Details Get a Quote |
| RAD51AP1 Knockout HeLa Cell Line | EDJ-KQ31988 | Human | 10635 | Details Get a Quote |
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