HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DSCC1
DNA replication and sister chromatid cohesion 1
Chromosome 8 · 8q24.12
NCBI Gene: 79075Ensembl: ENSG00000136982.7HGNC: HGNC:24453UniProt: Q9BVC3
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA clamp loader activitysingle-stranded DNA helicase activityprotein bindingchromosome, centromeric regionneurodegenerative diseasegastric cancerlung adenocarcinomahepatocellular carcinoma
✦AI Summary

DSCC1 (DNA replication and sister chr8 cohesion 1) functions as a critical regulator of DNA replication and genomic stability. As a component of the alternative replication factor C (RFC) complex, DSCC1 loads PCNA onto primed DNA templates, regulating replication fork velocity, spacing, and restart activity 1. The protein couples DNA replication to sister chr8 cohesion through regulation of SMC3 acetylation, with loss of DSCC1 causing severe genomic instability and micronucleus formation that can be rescued by SIRT1 loss through restoration of SMC3 protein acetylation 2. DSCC1 also plays a crucial role in DNA double-strand break repair pathway choice, where ATR-mediated phosphorylation recruits it to DSB sites during S/G2 phase to promote homologous recombination by restraining 53BP1/RIF1 signaling and facilitating DNA end resection 3. Clinically, DSCC1 is significantly overexpressed across multiple cancer types and correlates with poor prognosis, advanced tumor stages, and therapeutic resistance 45. In gastric cancer specifically, E2F4 transcriptionally activates DSCC1 to promote cell proliferation, migration, and invasion 6. The protein functions in parallel pathways with MMS22L-TONSL for sister chr8 cohesion establishment 7.

Sources cited
1
DSCC1 loss causes severe genomic instability and micronucleus formation; SIRT1 loss rescues DSCC1-associated phenotypes through SMC3 acetylation restoration
PMID: 38355793
2
DSCC1 promotes homologous recombination repair by restraining 53BP1/RIF1 signaling at DSBs during S/G2 phase
PMID: 40117291
3
DSCC1 is overexpressed in multiple cancers and correlates with poor prognosis and advanced tumor stages
PMID: 38586115
4
DSCC1 serves as pan-cancer prognostic and diagnostic biomarker with associations to genomic instability
PMID: 38678604
5
DSCC1 is a component of alternative RFC complex that loads PCNA and regulates replication fork dynamics
PMID: 39992486
6
E2F4 transcriptionally activates DSCC1 to promote gastric cancer cell proliferation, migration, and invasion
PMID: 39309429
7
DSCC1-RFC functions in sister chromatid cohesion in parallel pathway to MMS22L-TONSL
PMID: 36622344
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.43Moderate
gastric cancerOpen Targets
0.10Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
spondylocostal dysostosis 5Open Targets
0.04Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.04Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.04Suggestive
Klippel-Feil syndrome 3, autosomal dominantOpen Targets
0.04Suggestive
spondylocostal dysostosis 1, autosomal recessiveOpen Targets
0.04Suggestive
COVID-19Open Targets
0.04Suggestive
colorectal cancerOpen Targets
0.04Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.04Suggestive
Posterior fusion of lumbosacral vertebrae - blepharoptosisOpen Targets
0.04Suggestive
posterior fusion of lumbosacral vertebrae-blepharoptosis syndromeOpen Targets
0.04Suggestive
type 1 diabetes mellitusOpen Targets
0.03Suggestive
Becker nevus syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DDX11Protein interaction100%POLA1Protein interaction100%PRIM1Protein interaction100%PRIM2Protein interaction100%RAD21Protein interaction100%RFC3Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
46%
Heart
18%
Ovary
18%
Lung
11%
Liver
9%
Gene Interaction Network
Click a node to explore
DSCC1DDX11POLA1PRIM1PRIM2RAD21RFC3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BVC3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.43–0.85]
RankingsWhere DSCC1 stands among ~20K protein-coding genes
  • #11,905of 20,598
    Most Researched30
  • #7,330of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedDSCC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic determinants of micronucleus formation in vivo.
PMID: 38355793
Nature · 2024
1.00
2
DSCC1 restrains 53BP1/RIF1 signaling at DNA double-strand breaks to promote homologous recombination repair.
PMID: 40117291
Cell Rep · 2025
0.90
3
Decoding the DSCC1 gene as a pan-cancer biomarker in human cancers via comprehensive multi-omics analyses.
PMID: 38586115
Am J Transl Res · 2024
0.80
4
Characterization of the prognostic, diagnostic, and immunological roles of DSCC1 and its genomic alteration and instability in human cancers.
PMID: 38678604
Cell Mol Biol (Noisy-le-grand) · 2024
0.70
5
DSCC1 Identified as Promising Tumor Biomarker and Potential Therapeutic Target Through Comprehensive Multi-omics Analysis and Experimental Validation.
PMID: 39992486
Mol Biotechnol · 2026
0.60