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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GINS1
GINS complex subunit 1
Chromosome 20 · 20p11.21
NCBI Gene: 9837Ensembl: ENSG00000101003.12HGNC: HGNC:28980UniProt: A0A8Q3WLJ3
62PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmprotein bindingDNA replicationnucleuscombined immunodeficiency due to GINS1 deficiencyfetal growth restrictionPHARC syndromeAbnormality of the gastrointestinal tract
✦AI Summary

GINS1 (GINS complex subunit 1) is an essential component of the GINS complex, which functions as a core element of the CMG (CDC45-MCM-GINS) helicase required for DNA replication initiation and replication fork progression 12. The CMG complex serves as the molecular machine that unwinds template DNA during replication and acts as the structural foundation around which the replisome is built 34. Beyond its canonical role in DNA replication, GINS1 has emerged as a critical oncogenic driver in multiple cancer types. GINS1 is significantly upregulated in hepatocellular carcinoma (HCC), lung adenocarcinoma (LUAD), and diffuse large B-cell lymphoma (DLBCL), where elevated expression correlates with poor prognosis 567. In HCC, GINS1 promotes epithelial-mesenchymal transition and tumor metastasis through β-catenin signaling, particularly in vascularly invasive tumors 8. In LUAD, GINS1 facilitates tumor progression via Wnt/β-catenin pathway activation and regulates cell cycle progression 6. In DLBCL, both PAX5 and FOXP1 transcription factors regulate GINS1 expression, and elevated GINS1 confers doxorubicin resistance 79. Clinically, GINS1 has prognostic value as a shared biomarker across LIHC, LUAD, and KIRC, with high expression predicting poor overall survival 10. These findings suggest GINS1 as a potential therapeutic target in cancer.

Sources cited
1
In HCC, GINS1 promotes epithelial-mesenchymal transition and tumor metastasis through β-catenin signaling, particularly in vascularly invasive tumors .
PMID: 38468464
2
GINS1 is significantly upregulated in hepatocellular carcinoma (HCC), lung adenocarcinoma (LUAD), and diffuse large B-cell lymphoma (DLBCL), where elevated expression correlates with poor prognosis , , .
PMID: 40197379
3
Clinically, GINS1 has prognostic value as a shared biomarker across LIHC, LUAD, and KIRC, with high expression predicting poor overall survival .
PMID: 34852135
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
combined immunodeficiency due to GINS1 deficiencyOpen Targets
0.72Strong
fetal growth restrictionOpen Targets
0.46Moderate
PHARC syndromeOpen Targets
0.45Moderate
Abnormality of the gastrointestinal tractOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.14Weak
nicotine dependenceOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
diffuse large B-cell lymphomaOpen Targets
0.09Suggestive
sarcomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
leukemiaOpen Targets
0.08Suggestive
prostate carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
smoking initiationOpen Targets
0.06Suggestive
gastric cancerOpen Targets
0.05Suggestive
Invasive Breast CarcinomaOpen Targets
0.05Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
Immunodeficiency 55UniProt
Pathogenic Variants2
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr)Likely pathogenic
Combined immunodeficiency due to GINS1 deficiency
★☆☆☆2018→ Residue 152
NM_021067.5(GINS1):c.-60A>GPathogenic
Combined immunodeficiency due to GINS1 deficiency
☆☆☆☆2018
View on ClinVar ↗
Related Genes
POLEProtein interaction100%TIMELESSProtein interaction100%MCM10Protein interaction100%MCM8Protein interaction99%MCM9Protein interaction98%CDK1Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
78%
Ovary
9%
Liver
9%
Heart
8%
Lung
5%
Gene Interaction Network
Click a node to explore
GINS1POLETIMELESSMCM10MCM8MCM9CDK1
PROTEIN STRUCTURE
Preparing viewer…
PDB2E9X · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.89LoF Tolerant
pLIⓘ
0.08Tolerant
Observed/Expected LoF1.06 [0.38–1.89]
RankingsWhere GINS1 stands among ~20K protein-coding genes
  • #7,461of 20,598
    Most Researched62
  • #4,400of 5,498
    Most Pathogenic Variants2
  • #17,159of 17,882
    Most Constrained (LOEUF)1.89
Genes detectedGINS1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Eukaryotic DNA Replication Fork.
PMID: 28301743
Annu Rev Biochem · 2017
1.00
2
GINS1 is a prognostic biomarker and correlated with methylation and immune escape in liver hepatocellular carcinoma.
PMID: 40123906
Front Oncol · 2025
0.90
3
Multi‑omics analysis identifies different molecular subtypes with unique outcomes in early-stage poorly differentiated lung adenocarcinoma.
PMID: 40312720
Mol Cancer · 2025
0.80
4
PAX5 and circ1857 affected DLBCL progression and B-cell proliferation through regulating GINS1.
PMID: 37221950
Cancer Sci · 2023
0.70
5
GINS1 promotes ZEB1-mediated epithelial-mesenchymal transition and tumor metastasis via β-catenin signaling in hepatocellular carcinoma.
PMID: 38468464
J Cell Physiol · 2024
0.60