Aryl hydrocarbon receptor interacting protein like 1 (AIPL1) Associated conditions: 1. Retinitis pigmentosa 2. Leber congenital amaurosis
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001033054.3 | NP_001028226.1 | NC_000017.11 | (6423737..6435120, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001033055.3 | NP_001028227.1 | NC_000017.11 | (6423737..6435120, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001285399.3 | NP_001272328.1 | NC_000017.11 | (6423737..6435120, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001285400.3 | NP_001272329.1 | NC_000017.11 | (6423737..6435120, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001285401.3 | NP_001272330.1 | NC_000017.11 | (6423737..6435120, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001285402.2 | NP_001272331.1 | NC_000017.11 | (6423737..6435120, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001285403.4 | NP_001272332.1 | NC_000017.11 | (6423737..6435120, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_014336.5 | NP_055151.3 | NC_000017.11 | (6423737..6435120, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Aryl hydrocarbon receptor interacting protein like 1 (AIPL1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | located_in | photoreceptor inner segment | Component | - |
| 2 | Homo sapiens | IDA | enables | farnesylated protein binding | Function | 14555765 |
| 3 | Homo sapiens | IEA | enables | peptidyl-prolyl cis-trans isomerase activity | Function | - |
| 4 | Homo sapiens | IPI | enables | protein binding | Function | 12374762 21044950 27173435 32296183 33961781 |
| 5 | Homo sapiens | IDA | located_in | nucleus | Component | 12374762 |
| 6 | Homo sapiens | IEA | located_in | nucleus | Component | - |
| 7 | Homo sapiens | TAS | located_in | nucleus | Component | 10615133 |
| 8 | Homo sapiens | IDA | located_in | cytoplasm | Component | 12374762 |
| 9 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 10 | Homo sapiens | IEA | involved_in | visual perception | Process | - |
| 11 | Homo sapiens | TAS | involved_in | visual perception | Process | 10615133 |
| 12 | Homo sapiens | IDA | acts_upstream_of_or_within | protein farnesylation | Process | 14555765 |
| 13 | Homo sapiens | IEA | enables | unfolded protein binding | Function | - |
| 14 | Homo sapiens | TAS | enables | unfolded protein binding | Function | 10615133 |