CRB1 Gene
Crumbs Cell Polarity Complex Component 1
Gene Information Card
| Symbol | CRB1 |
|---|---|
| Full Name | Crumbs Cell Polarity Complex Component 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q31.3 |
| NCBI Gene ID | 23418 ncbi.nlm.nih.gov/gene/23418 |
| Ensembl ID | ENSG00000134376 |
| UniProt ID | P82279 |
| OMIM ID | 604210 |
| HGNC ID | 2343 |
| Aliases | CRB, MGC141975, RP12, LCA8 |
Description
The CRB1 gene encodes a protein that is a component of the Crumbs cell polarity complex, essential for the establishment and maintenance of apical-basal polarity in epithelial cells, particularly in the retina. It is involved in photoreceptor morphogenesis and integrity. Mutations in CRB1 are associated with autosomal recessive retinitis pigmentosa (RP12) and Leber congenital amaurosis (LCA8).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 12 (RP12) | Loss of CRB1 function disrupts photoreceptor cell polarity and adhesion, leading to progressive retinal degeneration. | ClinVar, OMIM |
| Leber congenital amaurosis 8 (LCA8) | Biallelic CRB1 mutations impair retinal development and photoreceptor survival, causing severe early-onset vision loss. | ClinVar, OMIM |
| Retinitis pigmentosa with Coats-like exudative vasculopathy | CRB1 mutations may alter retinal vascular integrity, leading to exudative changes. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 27.8 | High |
| Brain | 1.2 | Low |
| Testis | 0.5 | Low |
| Kidney | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.0 | Moderate expression |
| HEK293 (embryonic kidney) | 0.8 | Low expression |
| SH-SY5Y (neuroblastoma) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2290C>T (p.Arg764Cys) | Missense | Common | Disrupts protein folding and localization |
| c.498_506del (p.Ile167_Leu169del) | Deletion | Rare | Loss of function due to frameshift |
| c.2843G>A (p.Cys948Tyr) | Missense | Rare | Impairs extracellular domain interaction |
Mutation functional classification
Loss of Function (LOF)
Most CRB1 mutations are loss-of-function, leading to truncated or misfolded protein, resulting in retinal degeneration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • apical plasma membrane | • cell-cell junction |
| • photoreceptor cell maintenance | • cell polarity |
| • protein binding |
Pathways
• Crumbs complex pathway
• Retinal development and maintenance
Protein Summary
The CRB1 protein is a transmembrane component of the Crumbs polarity complex, localized to the apical membrane of photoreceptor cells. It contains multiple EGF-like and laminin G-like domains, mediating cell-cell adhesion and polarity signaling. Loss of CRB1 leads to disorganization of photoreceptor outer segments and progressive retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRB1 Knockout HEK293 Cell Line | EDJ-KQ782 | Human | 23418 | Details Get a Quote |
| CRB1 Knockout HeLa Cell Line | EDJ-KQ20833 | Human | 23418 | Details Get a Quote |
| CRB1 Knockout A-549 Cell Line | EDJ-KQ64230 | Human | 23418 | Details Get a Quote |
| CRB1 Knockout HCT 116 Cell Line | EDJ-KQ72675 | Human | 23418 | Details Get a Quote |
