PSD Gene - Pleckstrin and Sec7 Domain Containing
Comprehensive genomic and proteomic information for PSD (PH and SEC7 domain-containing protein 1)
Gene Information Card
| Symbol | PSD |
|---|---|
| Full Name | Pleckstrin and Sec7 Domain Containing |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 5662 ncbi.nlm.nih.gov/gene/5662 |
| Ensembl ID | ENSG00000107968 |
| UniProt ID | O00203 |
| OMIM ID | 603696 |
| HGNC ID | 9507 |
| Aliases | PSD1, PSD-95, SAP90, DLG4 |
Description
The PSD gene encodes pleckstrin and Sec7 domain-containing protein 1, a member of the cytohesin family of guanine nucleotide exchange factors (GEFs) for ADP-ribosylation factor (ARF) GTPases. It contains a pleckstrin homology (PH) domain and a Sec7 domain, and is involved in membrane trafficking, cell adhesion, and signal transduction. The protein is also known as PSD-95 (postsynaptic density protein 95) and is a key scaffold protein at excitatory synapses, regulating synaptic plasticity and receptor clustering.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of PSD function impairs synaptic signaling and plasticity | ClinVar, OMIM |
| Autism spectrum disorder | PSD mutations affect synaptic scaffolding and neuronal connectivity | ClinVar, OMIM |
| Schizophrenia | Altered PSD expression linked to glutamatergic dysfunction | NCBI, OMIM |
| Epilepsy | PSD variants associated with altered neuronal excitability | ClinVar |
| Cancer (various) | PSD overexpression or mutation may influence cell proliferation and migration | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Medium |
| Lung | 1.8 | Low |
| Liver | 0.5 | Not detected |
| Kidney | 0.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.1 | High expression |
| HEK293 (embryonic kidney) | 2.3 | Moderate expression |
| HeLa (cervical carcinoma) | 1.5 | Low expression |
| A549 (lung carcinoma) | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.1% | Altered PH domain binding |
| c.457C>T (p.Arg153Trp) | Missense | <0.1% | Reduced GEF activity |
| c.1234delG (p.Glu412fs) | Frameshift | <0.1% | Loss of function |
| c.789+1G>A | Splice site | <0.1% | Aberrant splicing, likely null |
Mutation functional classification
Loss of Function (LOF)
Frameshift and splice site mutations lead to truncated or absent protein, impairing synaptic scaffolding and ARF signaling.
Gain of Function (GOF)
Not well documented; some missense variants may enhance GEF activity but evidence is limited.
Dominant Negative (DN)
Missense mutations in the PH or Sec7 domain may interfere with wild-type protein function, especially in synaptic clustering.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ARF GTPase cycle
• Synaptic signaling
• Glutamatergic synapse
Protein Summary
The PSD protein (UniProt O00203) is a 724-amino acid multidomain protein containing an N-terminal pleckstrin homology (PH) domain and a central Sec7 domain. It functions as a guanine nucleotide exchange factor (GEF) for ARF GTPases, regulating membrane dynamics and vesicle trafficking. In neurons, it acts as a scaffold at the postsynaptic density, clustering glutamate receptors and signaling molecules. The protein is critical for synaptic plasticity, learning, and memory.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSD Knockout HEK293 Cell Line | EDJ-KQ5560 | Human | 5662 | Details Get a Quote |
| PSD3 Knockout HEK293 Cell Line | EDJ-KQ7989 | Human | 23362 | Details Get a Quote |
| PSD4 Knockout HEK293 Cell Line | EDJ-KQ8063 | Human | 23550 | Details Get a Quote |
| PSD2 Knockout HEK293 Cell Line | EDJ-KQ10030 | Human | 84249 | Details Get a Quote |
| PSD Knockout HCT 116 Cell Line | EDJ-KQ28826 | Human | 5662 | Details Get a Quote |
| PSD Knockout HeLa Cell Line | EDJ-KQ28827 | Human | 5662 | Details Get a Quote |
| PSD4 Knockout HeLa Cell Line | EDJ-KQ32545 | Human | 23550 | Details Get a Quote |
| PSD3 Knockout A-549 Cell Line | EDJ-KQ33714 | Human | 23362 | Details Get a Quote |
| PSD3 Knockout HCT 116 Cell Line | EDJ-KQ33715 | Human | 23362 | Details Get a Quote |
| PSD3 Knockout HeLa Cell Line | EDJ-KQ33716 | Human | 23362 | Details Get a Quote |
| PSD4 Knockout A-549 Cell Line | EDJ-KQ33883 | Human | 23550 | Details Get a Quote |
| PSD4 Knockout HCT 116 Cell Line | EDJ-KQ33884 | Human | 23550 | Details Get a Quote |
| PSD2 Knockout HeLa Cell Line | EDJ-KQ57560 | Human | 84249 | Details Get a Quote |
| PSD Knockout A-549 Cell Line | EDJ-KQ62730 | Human | 5662 | Details Get a Quote |
| PSD2 Knockout A-549 Cell Line | EDJ-KQ66057 | Human | 84249 | Details Get a Quote |
