DLGAP1
DLG Associated Protein 1: A Scaffolding Protein in Neuronal Signaling and Synaptic Organization
Gene Information Card
| Symbol | DLGAP1 |
|---|---|
| Full Name | DLG associated protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.31 |
| NCBI Gene ID | 9229 ncbi.nlm.nih.gov/gene/9229 |
| Ensembl ID | ENSG00000101412 |
| UniProt ID | O14490 |
| OMIM ID | 605442 |
| HGNC ID | 2901 |
| Aliases | SAPAP1, GKAP, DAP-1, DAP1 |
Description
DLGAP1 (DLG associated protein 1) encodes a member of the DLGAP family of scaffolding proteins. The protein interacts with PSD-95 and other MAGUK proteins at the postsynaptic density, playing a critical role in synaptic organization, receptor clustering, and signal transduction. Alternative splicing generates multiple isoforms with distinct functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered DLGAP1 expression and splicing may disrupt synaptic signaling, contributing to neuropsychiatric pathology. | ClinVar, NCBI |
| Autism Spectrum Disorder | Rare variants in DLGAP1 have been associated with ASD, potentially affecting synaptic protein complexes. | ClinVar, NCBI |
| Intellectual Disability | Deleterious mutations in DLGAP1 may impair cognitive function through synaptic dysfunction. | ClinVar |
| Bipolar Disorder | Genetic association studies implicate DLGAP1 variants in mood disorder susceptibility. | NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Cerebellum | 10.8 | High |
| Testis | 3.1 | Medium |
| Heart | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.7 | Neuronal model |
| U-87 MG | 2.3 | Glioblastoma |
| HEK293 | 0.9 | Low expression |
| HepG2 | 0.4 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with neurodevelopmental disorders |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; reported in intellectual disability |
| c.890A>G (p.Asn297Ser) | Missense | 0.02% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature termination codons and likely nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations currently documented.
Dominant Negative (DN)
No dominant-negative mutations currently documented.
View complete mutation data：
Gene Ontology (GO)
| • synaptic signaling | • postsynaptic density assembly |
| • protein homodimerization activity | • PDZ domain binding |
| • ionotropic glutamate receptor clustering |
Pathways
• PSD-95 signaling
• NMDA receptor complex
• MAGUK scaffolding
Protein Summary
DLGAP1 is a 1001-amino acid scaffolding protein localized to the postsynaptic density. It contains multiple PDZ-binding motifs and a GKAP domain, enabling interactions with PSD-95, SAPAP2, and other synaptic proteins. The protein is essential for proper synaptic organization and plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLGAP1 Knockout HEK293 Cell Line | EDJ-KQ6511 | Human | 9229 | Details Get a Quote |
| DLGAP1 Knockout HeLa Cell Line | EDJ-KQ55107 | Human | 9229 | Details Get a Quote |
| DLGAP1 Knockout A-549 Cell Line | EDJ-KQ63589 | Human | 9229 | Details Get a Quote |
| DLGAP1 Knockout HCT 116 Cell Line | EDJ-KQ72054 | Human | 9229 | Details Get a Quote |
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