AIPL1
Aryl Hydrocarbon Receptor Interacting Protein Like 1
Gene Information Card
| Symbol | AIPL1 |
|---|---|
| Full Name | Aryl Hydrocarbon Receptor Interacting Protein Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 23746 ncbi.nlm.nih.gov/gene/23746 |
| Ensembl ID | ENSG00000129221 |
| UniProt ID | Q9NZN9 |
| OMIM ID | 604392 |
| HGNC ID | 358 |
| Aliases | LCA4, AIPL2 |
Description
The AIPL1 gene encodes a protein that is essential for the proper development and function of photoreceptor cells in the retina. It interacts with aryl hydrocarbon receptor and is involved in protein folding and stabilization of phosphodiesterase 6 (PDE6), a key enzyme in phototransduction. Mutations in AIPL1 are associated with Leber congenital amaurosis type 4 (LCA4) and other retinal dystrophies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leber congenital amaurosis 4 (LCA4) | Loss-of-function mutations impair PDE6 folding, leading to photoreceptor degeneration | ClinVar, OMIM |
| Retinitis pigmentosa | Some missense variants cause progressive rod-cone dystrophy | ClinVar, OMIM |
| Cone-rod dystrophy | Rare variants disrupt cone function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Testis | 0.8 | Low |
| Brain | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 5.2 | Moderate expression |
| HEK293 | 0.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.834G>A (p.Trp278*) | Nonsense | Rare (founder in Finnish population) | Loss of function, truncation |
| c.755A>G (p.Tyr252Cys) | Missense | Rare | Impaired PDE6 interaction |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most AIPL1 mutations are loss-of-function, leading to reduced PDE6 stability and photoreceptor death.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Unfolded protein binding | • Photoreceptor cell maintenance |
| • Visual perception | • Protein folding chaperone |
Pathways
• Phototransduction cascade
• Protein folding in endoplasmic reticulum
Protein Summary
AIPL1 is a 384-amino acid protein containing a tetratricopeptide repeat (TPR) domain that mediates interaction with HSP90 and PDE6. It acts as a molecular chaperone essential for the assembly and stability of the PDE6 holoenzyme in rod and cone photoreceptors. Loss of AIPL1 function leads to severe early-onset retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AIPL1 Knockout HEK293 Cell Line | EDJ-KQ8132 | Human | 23746 | Details Get a Quote |
| AIPL1 Knockout HeLa Cell Line | EDJ-KQ55801 | Human | 23746 | Details Get a Quote |
| AIPL1 Knockout A-549 Cell Line | EDJ-KQ64297 | Human | 23746 | Details Get a Quote |
| AIPL1 Knockout HCT 116 Cell Line | EDJ-KQ72746 | Human | 23746 | Details Get a Quote |
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