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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DLG1
discs large MAGUK scaffold protein 1
Chromosome 3 · 3q29
NCBI Gene: 1739Ensembl: ENSG00000075711.21HGNC: HGNC:2900UniProt: A0A0C4DFT3
319PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transmembrane transporter bindingcadherin bindingendoplasmic reticulumcytoplasmAbnormality of the skeletal systemovarian neoplasmPeyronie diseaseAbnormal erythrocyte morphology
✦AI Summary

DLG1 is an essential multidomain scaffolding protein that organizes proteins at discrete plasma membrane domains to maintain epithelial cell polarity and barrier function 1. Structurally, DLG1 functions as a core component of the Scribble polarity complex and operates upstream of multiple cellular processes including adherens junction assembly, cell-cell adhesion maintenance, and tight junction integrity 1. Mechanistically, DLG1 regulates ciliary protein trafficking by controlling SDCCAG3 and IFT20-mediated localization of polycystin-2 to primary cilia in kidney epithelial cells 2. In immune cells, DLG1 is essential for dendritic cell maturation, promoting CD83 upregulation and IL-6 production, thereby facilitating downstream T cell activation 3. DLG1 shows strong expression during early kidney development with progressive decline, suggesting critical roles in nephrogenesis 4. Disease relevance is substantial: DLG1 dysfunction contributes to Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), as the p.T489R variant impairs ciliary protein trafficking 2. Altered DLG1 expression and subcellular localization occur across multiple pathologies including cancers, neurological, and immunological disorders 5. In oropharyngeal squamous cell carcinomas, DLG1 relocalization from cell-cell contacts to cytoplasm correlates with malignant progression 6. Emerging evidence indicates circDlg1 regulates microglial neuroinflammation in Alzheimer's disease through PDE4B-mediated cAMP signaling 7.

Sources cited
1
DLG1 is a core component of the Scribble polarity complex that maintains epithelial barrier function and regulates E-cadherin and ZO-1 stability at cell junctions
PMID: 39350674
2
DLG1 regulates ciliary protein trafficking by controlling SDCCAG3 and IFT20; DLG1 p.T489R variant impairs this pathway and associates with CAKUT
PMID: 38849673
3
DLG1 is important for CD83 upregulation and IL-6 production in dendritic cells during maturation, facilitating T cell activation
PMID: 32293058
4
DLG1 shows strong expression during early kidney development (Phase 1) with gradual decrease, indicating role in nephrogenesis
PMID: 36830709
5
DLG1 alterations in expression and localization occur across multiple pathologies including cancer, neurological, and immunological disorders
PMID: 30517074
6
DLG1 relocalization from cell-cell contacts to cytoplasm occurs in oropharyngeal squamous cell carcinomas and correlates with malignant progression
PMID: 34503271
7
Circular RNA circDlg1 regulates microglial neuroinflammation in Alzheimer's disease by blocking PDE4B ubiquitination-dependent degradation
PMID: 40093898
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.45Moderate
ovarian neoplasmOpen Targets
0.32Weak
Abnormal erythrocyte morphologyOpen Targets
0.27Weak
Peyronie diseaseOpen Targets
0.27Weak
acneOpen Targets
0.27Weak
allergic rhinitisOpen Targets
0.27Weak
multinodular goiterOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.25Weak
ulcerative colitisOpen Targets
0.20Weak
Macroscopic hematuriaOpen Targets
0.20Weak
endocrine system diseaseOpen Targets
0.16Weak
mathematical abilityOpen Targets
0.11Weak
triple-negative breast cancerOpen Targets
0.09Suggestive
papillary thyroid carcinomaOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Parkinson diseaseOpen Targets
0.08Suggestive
congenital rubellaOpen Targets
0.07Suggestive
early-onset non-syndromic cataractOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LCKProtein interaction100%GRIA2Protein interaction100%GRIA1Protein interaction100%CASKProtein interaction100%LLGL2Protein interaction99%CALM1Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Heart
67%
Bone Marrow
66%
Liver
48%
Ovary
37%
Lung
32%
Gene Interaction Network
Click a node to explore
DLG1LCKGRIA2GRIA1CASKLLGL2CALM1
PROTEIN STRUCTURE
Preparing viewer…
PDB7PC3 · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.33 [0.23–0.49]
RankingsWhere DLG1 stands among ~20K protein-coding genes
  • #1,049of 20,598
    Most Researched319 · top 10%
  • #2,892of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedDLG1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Scrib and Dlg1 polarity proteins regulate Ag presentation in human dendritic cells.
PMID: 32293058
J Leukoc Biol · 2020
1.00
2
DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2.
PMID: 38849673
EMBO Rep · 2024
0.90
3
Spatio-Temporal Expression Pattern of CAKUT Candidate Genes
PMID: 36830709
Biomolecules · 2023
0.80
4
The Scribble-SGEF-Dlg1 complex regulates E-cadherin and ZO-1 stability, turnover and transcription in epithelial cells.
PMID: 39350674
J Cell Sci · 2024
0.70
5
Allosterism in the PDZ Family.
PMID: 35163402
Int J Mol Sci · 2022
0.68