PATJ Gene - Crumbs Cell Polarity Complex Component
PATJ (PALS1-Associated Tight Junction Protein) - Gene, Function, and Disease Associations
Gene Information Card
| Symbol | PATJ |
|---|---|
| Full Name | PALS1-associated tight junction protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 10207 ncbi.nlm.nih.gov/gene/10207 |
| Ensembl ID | ENSG00000132819 |
| UniProt ID | Q8NI35 |
| OMIM ID | 603910 |
| HGNC ID | 16447 |
| Aliases | INADL, MGC129610, MGC129611, hINADL |
Description
PATJ (PALS1-associated tight junction protein) encodes a scaffold protein that localizes to tight junctions and is a component of the Crumbs (CRB) cell polarity complex. It plays a critical role in establishing and maintaining apical-basal polarity in epithelial cells, as well as in regulating cell proliferation and migration. The protein contains multiple PDZ domains that mediate interactions with other polarity proteins such as PALS1 and CRB3.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Disruption of CRB complex leads to photoreceptor degeneration | PMID: 25525159; ClinVar |
| Nephronophthisis | Defective cell polarity in renal tubules | PMID: 23559409; OMIM |
| Cancer (various) | Altered expression affects tight junction integrity and cell polarity | COSMIC; PMID: 21746835 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 9.8 | Medium |
| Brain | 8.2 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 10.1 | Medium expression |
| A549 | 9.5 | Medium expression |
| MCF7 | 7.8 | Medium expression |
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 retinitis pigmentosa |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; associated with nephronophthisis |
| c.2345_2346del (p.Leu782fs) | Frameshift | <0.01% | Loss of function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking PDZ domains, disrupting CRB complex assembly and cell polarity.
Gain of Function (GOF)
No gain-of-function mutations reported in PATJ.
Dominant Negative (DN)
No dominant-negative mutations reported in PATJ.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell junction organization (Reactome: R-HSA-446728)
• Tight junction interactions (Reactome: R-HSA-420029)
• CRB complex pathway (Reactome: R-HSA-5365859)
Protein Summary
PATJ is a 1,801-amino-acid scaffold protein with 10 PDZ domains and a single L27 domain. It localizes to tight junctions in epithelial cells and interacts with PALS1 and CRB3 to form the Crumbs polarity complex. This complex is essential for establishing apical-basal polarity, maintaining tight junction integrity, and regulating cell proliferation. Loss of PATJ function disrupts polarity and is linked to retinal degeneration, renal disease, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PATJ Knockout HEK293 Cell Line | EDJ-KQ1357 | Human | 10207 | Details Get a Quote |
| PATJ Knockout A-549 Cell Line | EDJ-KQ20834 | Human | 10207 | Details Get a Quote |
| PATJ Knockout HCT 116 Cell Line | EDJ-KQ20835 | Human | 10207 | Details Get a Quote |
| PATJ Knockout HeLa Cell Line | EDJ-KQ20836 | Human | 10207 | Details Get a Quote |
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