PALS1 Gene - Protein Associated with LIN7 1 (MAGUK p55 Subfamily Member 1)
Comprehensive genomic and proteomic analysis of PALS1, a scaffolding protein in cell polarity and tight junction formation.
Gene Information Card
| Symbol | PALS1 |
|---|---|
| Full Name | Protein Associated with LIN7 1 (MAGUK p55 Subfamily Member 5) |
| Gene Type | Protein coding |
| Chromosomal Location | 14q23.3 |
| NCBI Gene ID | 57214 ncbi.nlm.nih.gov/gene/57214 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N3R9 |
| OMIM ID | 609677 |
| HGNC ID | 21380 |
| Aliases | MPP5, LIN7C, PALS1, MASCOT |
Description
PALS1 (Protein Associated with LIN7 1) encodes a member of the membrane-associated guanylate kinase (MAGUK) p55 subfamily. The protein functions as a scaffolding molecule at tight junctions and is a core component of the Crumbs (CRB) polarity complex, essential for establishing and maintaining apical-basal cell polarity in epithelial cells and photoreceptors. PALS1 interacts with PATJ, LIN7, and CRB proteins to regulate cell-cell adhesion, signaling, and tissue morphogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis Pigmentosa | Disruption of CRB-PALS1 complex leads to photoreceptor degeneration | OMIM #609677; ClinVar |
| Hereditary Retinal Dystrophy | Loss of PALS1 function impairs retinal polarity and integrity | ClinVar; NCBI GeneReviews |
| Cancer (various) | Altered PALS1 expression affects tight junction integrity and cell polarity, promoting invasion | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Lung | 9.2 | Medium |
| Liver | 7.1 | Low |
| Heart | 6.5 | Low |
| Retina | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.5 | Medium expression |
| MCF7 | 9.8 | Medium expression |
| A549 | 8.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with retinal dystrophy |
| c.1567G>A (p.Gly523Arg) | Missense | <0.1% | Impaired CRB binding; likely pathogenic |
| c.2002_2003del (p.Val668fs) | Frameshift | <0.1% | Loss of function; reported in retinitis pigmentosa |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PALS1 lead to truncated or absent protein, disrupting the CRB polarity complex and causing retinal degeneration.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PALS1.
Dominant Negative (DN)
Some missense mutations (e.g., p.Gly523Arg) may act as dominant-negative by interfering with CRB complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005911 (GO:0005911) | • GO:0005923 (GO:0005923) |
| • GO:0016327 (GO:0016327) | • GO:0030054 (GO:0030054) |
| • GO:0030154 (GO:0030154) | • GO:0045177 (GO:0045177) |
| • GO:0060090 (GO:0060090) |
Pathways
• Crumbs complex (apical polarity)
• Tight junction (MAGUK family)
• Cell-cell adhesion
Protein Summary
PALS1 (MPP5) is a 675-amino acid MAGUK scaffolding protein containing PDZ, SH3, and GUK domains. It localizes to tight junctions and the apical membrane, where it binds CRB1/CRB2 via its PDZ domain and PATJ via its SH3 domain. PALS1 is critical for maintaining epithelial polarity, photoreceptor morphogenesis, and barrier function. Loss of PALS1 leads to disrupted polarity and is linked to retinal degenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PALS1 Knockout HEK293 Cell Line | EDJ-KQ1358 | Human | 64398 | Details Get a Quote |
| PALS1 Knockout A-549 Cell Line | EDJ-KQ20837 | Human | 64398 | Details Get a Quote |
| PALS1 Knockout HCT 116 Cell Line | EDJ-KQ20838 | Human | 64398 | Details Get a Quote |
| PALS1 Knockout HeLa Cell Line | EDJ-KQ20839 | Human | 64398 | Details Get a Quote |
