ARR3 (Arrestin 3, Retinal)
A key regulator of cone phototransduction and visual signaling
Gene Information Card
| Symbol | ARR3 |
|---|---|
| Full Name | Arrestin 3, Retinal |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 407 ncbi.nlm.nih.gov/gene/407 |
| Ensembl ID | ENSG00000169084 |
| UniProt ID | P36575 |
| OMIM ID | 301770 |
| HGNC ID | 711 |
| Aliases | ARRX, cone arrestin, CARR |
Description
ARR3 encodes arrestin 3, a member of the arrestin family that specifically regulates cone phototransduction. It binds to photoactivated and phosphorylated cone opsins, terminating the visual signal by preventing further G-protein activation. ARR3 is expressed predominantly in cone photoreceptors of the retina and plays a critical role in light adaptation and visual acuity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked cone dystrophy | Loss-of-function mutations in ARR3 impair cone opsin desensitization, leading to progressive cone degeneration and vision loss. | ClinVar, OMIM |
| Cone-rod dystrophy | Disruption of ARR3-mediated phototransduction termination may contribute to cone-rod dysfunction. | ClinVar, OMIM |
| Night blindness (congenital stationary) | Altered cone arrestin function can affect dim-light vision adaptation. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 58.2 | High |
| Brain (cerebellum) | 0.3 | Not detected |
| Heart | 0.1 | Not detected |
| Liver | 0.0 | Not detected |
| Testis | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | No expression |
| Y79 (retinoblastoma) | 0.0 | No expression |
| HEK293 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | Rare | Reduced binding to cone opsin |
| c.286G>A (p.Gly96Arg) | Missense | Rare | Impaired arrestin activation |
| c.487C>T (p.Arg163Trp) | Missense | Rare | Loss of function in phototransduction |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most ARR3 mutations are loss-of-function, leading to impaired cone opsin desensitization and retinal degeneration.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ARR3.
Dominant Negative (DN)
No dominant-negative effects have been described for ARR3 mutations.
View complete mutation data：
Gene Ontology (GO)
| • G-protein coupled receptor signaling pathway | • phototransduction |
| • visual perception | • protein binding |
| • arrestin family protein binding | • signal transduction |
Pathways
• Phototransduction cascade (cone-specific)
• Visual signal transduction
Protein Summary
Arrestin 3 (cone arrestin) is a 388-amino acid protein that specifically terminates cone opsin signaling. It binds to light-activated and phosphorylated cone opsins, blocking further G-protein activation and promoting receptor internalization. The protein is essential for rapid adaptation of cone photoreceptors to changing light conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARR3 Knockout HEK293 Cell Line | EDJ-KQ4092 | Human | 407 | Details Get a Quote |
| ARR3 Knockout HeLa Cell Line | EDJ-KQ52662 | Human | 407 | Details Get a Quote |
| ARR3 Knockout A-549 Cell Line | EDJ-KQ61135 | Human | 407 | Details Get a Quote |
| ARR3 Knockout HCT 116 Cell Line | EDJ-KQ69622 | Human | 407 | Details Get a Quote |
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