DLG1: Discs Large MAGUK Scaffold Protein 1
A key scaffold protein in cell polarity, synaptic signaling, and tumor suppression.
Gene Information Card
| Symbol | DLG1 |
|---|---|
| Full Name | Discs Large MAGUK Scaffold Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 1739 ncbi.nlm.nih.gov/gene/1739 |
| Ensembl ID | ENSG00000075711 |
| UniProt ID | Q12959 |
| OMIM ID | 601014 |
| HGNC ID | 2900 |
| Aliases | SAP97, SAP-97, hdlg, DLGH1 |
Description
DLG1 (Discs Large MAGUK Scaffold Protein 1) is a member of the membrane-associated guanylate kinase (MAGUK) family. It functions as a scaffold protein at cell junctions and synapses, organizing signaling complexes and regulating cell polarity, proliferation, and synaptic transmission. DLG1 is involved in tumor suppression and neurodevelopment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | DLG1 downregulation disrupts cell polarity and promotes invasion | PMID: 20629172 |
| Colorectal cancer | Loss of DLG1 expression correlates with tumor progression and metastasis | PMID: 16951374 |
| Schizophrenia | DLG1 variants associated with altered synaptic scaffolding and neurotransmission | PMID: 19012874 |
| Intellectual disability | DLG1 mutations impair synaptic function and neuronal development | PMID: 27545674 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.5 | High |
| Lung | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 15.1 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.6 | High expression |
| HeLa | 18.2 | Moderate expression |
| SH-SY5Y | 30.1 | Neuronal cell line, high expression |
| HepG2 | 10.5 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.163G>A (p.Gly55Arg) | Missense | Rare | Altered PDZ domain binding |
| c.2140C>T (p.Arg714Trp) | Missense | Rare | Impaired synaptic localization |
| c.1234delC | Frameshift | Very rare | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated or unstable protein, reducing scaffold activity.
Gain of Function (GOF)
Not well documented; some missense variants may alter binding specificity.
Dominant Negative (DN)
Missense mutations in PDZ domains can disrupt multimerization and dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell junction organization (Reactome: R-HSA-446353)
• Tight junction interactions (Reactome: R-HSA-420029)
• Synaptic adhesion-like molecules (Reactome: R-HSA-6794362)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
Protein Summary
DLG1 encodes a 904-amino acid scaffold protein containing three PDZ domains, an SH3 domain, and a guanylate kinase-like domain. It localizes to cell junctions and synapses, where it clusters receptors, ion channels, and signaling molecules. DLG1 is critical for maintaining epithelial polarity, regulating cell proliferation, and modulating synaptic plasticity. Its loss or mutation contributes to cancer progression and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLG1 Knockout HEK293 Cell Line | EDJ-KQ1386 | Human | 1739 | Details Get a Quote |
| DLG1 Knockout A-549 Cell Line | EDJ-KQ20899 | Human | 1739 | Details Get a Quote |
| DLG1 Knockout HCT 116 Cell Line | EDJ-KQ20900 | Human | 1739 | Details Get a Quote |
| DLG1 Knockout HeLa Cell Line | EDJ-KQ20901 | Human | 1739 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
