HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SWSAP1
SWIM-type zinc finger 7 associated protein 1
Chromosome 19 · 19p13.2
NCBI Gene: 126074Ensembl: ENSG00000173928.4HGNC: HGNC:26638UniProt: A0A6I8PRB2
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous Recombination
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
single-stranded DNA bindingprotein bindingATP hydrolysis activitydouble-strand break repair via homologous recombinationneurodegenerative diseaseazoospermiapartial chromosome Y deletionspermatogenic failure 71
✦AI Summary

SWSAP1 is an ATPase component of the evolutionarily conserved Shu complex that plays a critical role in homologous recombination (HR) repair of DNA damage. As part of the SWS1-SWSAP1 heterodimer, SWSAP1 binds single-stranded DNA with exposed 5' ends and exhibits DNA-stimulated ATPase activity 1. The complex functions by binding and stabilizing RAD51 filaments, maintaining their structural integrity, and enhancing RPA diffusion on ssDNA to promote strand exchange during HR 2. SWSAP1 interacts with RAD51 and RAD51 paralogs, and its depletion causes defects in homologous recombination repair 3. Beyond somatic DNA repair, SWSAP1 is essential for meiotic recombination, promoting RAD51 and DMC1 assembly on early meiotic intermediates 4, and mutations in SWSAP1 cause premature ovarian insufficiency through impaired interhomolog homologous recombination 5. Cancer-associated variants in SWSAP1 alter Shu complex formation and stability, making SWSAP1 a potential therapeutic target for cancer treatment 2. SWSAP1 knockout cells show sensitivity to PARP and APE1 inhibition, suggesting relevance for cancer therapeutics 2.

Sources cited
1
SWSAP1-SWS1 binds and stabilizes RAD51 filaments, enhances RPA diffusion, and cancer variants in SWSAP1 alter complex formation; knockout cells are sensitive to PARP/APE1 inhibition
PMID: 39169038
2
SWSAP1 preferentially binds ssDNA with exposed 5' ends, possesses DNA-stimulated ATPase activity, and induces ATP-dependent conformational changes in RAD51 filaments
PMID: 40345587
3
SWSAP1 forms a stable complex with SWS1, possesses ssDNA-binding and DNA-stimulated ATPase activity, interacts with RAD51, and depletion causes HR defects
PMID: 21965664
4
SWS1-SWSAP1 is essential for male and female fertility by promoting RAD51 and DMC1 assembly on early meiotic homologous recombination intermediates
PMID: 30305635
5
SWSAP1 variants cause premature ovarian insufficiency through impaired interhomolog homologous recombination in meiosis
PMID: 40991243
6
SWSAP1 is a RAD51 paralog and mediator protein; mutations in SWSAP1 are found in breast and ovarian cancers
PMID: 30551670
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.17Weak
azoospermiaOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
isochromosomy YpOpen Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.06Suggestive
spermatogenic failure 63Open Targets
0.06Suggestive
primary ovarian insufficiencyOpen Targets
0.06Suggestive
isochromosomy YqOpen Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
ring chromosome YOpen Targets
0.06Suggestive
Testicular regression syndromeOpen Targets
0.06Suggestive
spermatogenic failure 61Open Targets
0.06Suggestive
spermatogenic failure 62Open Targets
0.06Suggestive
spermatogenic failure 88Open Targets
0.06Suggestive
partial androgen insensitivity syndromeOpen Targets
0.06Suggestive
spermatogenic failure 60Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ERCC8Protein interaction98%ATMProtein interaction98%XRCC6Protein interaction97%POLD1Protein interaction95%PAXXProtein interaction93%RAD51DProtein interaction91%
Tissue Expression6 tissues
Liver
100%
Ovary
55%
Lung
48%
Bone Marrow
38%
Heart
35%
Brain
20%
Gene Interaction Network
Click a node to explore
SWSAP1ERCC8ATMXRCC6POLD1PAXXRAD51D
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6NVH7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.51LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.73 [0.38–1.51]
RankingsWhere SWSAP1 stands among ~20K protein-coding genes
  • #15,129of 20,598
    Most Researched17
  • #15,206of 17,882
    Most Constrained (LOEUF)1.51
Genes detectedSWSAP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The human Shu complex promotes RAD51 activity by modulating RPA dynamics on ssDNA.
PMID: 39169038
Nat Commun · 2024
1.00
2
The human Shu complex promotes RAD51 activity by modulating RPA dynamics on ssDNA.
PMID: 38405734
bioRxiv · 2024
0.90
3
The role of human Shu complex in ATP-dependent regulation of RAD51 filaments during homologous recombination-associated DNA damage response.
PMID: 40345587
J Biol Chem · 2025
0.80
4
RAD-ical New Insights into RAD51 Regulation.
PMID: 30551670
Genes (Basel) · 2018
0.70
5
hSWS1·SWSAP1 is an evolutionarily conserved complex required for efficient homologous recombination repair.
PMID: 21965664
J Biol Chem · 2011
0.60