RPGRIP1 like (RPGRIP1L) Associated conditions: 1. Joubert syndrome 2. Bardet-Biedl syndrome 3. Nephronophthisis 4. Leber congenital amaurosis
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001127897.4 | NP_001121369.1 | NC_000016.10 | (53598152..53703858, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001308334.3 | NP_001295263.1 | NC_000016.10 | (53598152..53703858, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001328422.2 | NP_001315351.1 | NC_000016.10 | (53598152..53703858, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001328423.2 | NP_001315352.1 | NC_000016.10 | (53598152..53703858, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001330538.2 | NP_001317467.1 | NC_000016.10 | (53598152..53703858, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_015272.5 | NP_056087.2 | NC_000016.10 | (53598152..53703858, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | XR_007064860.1 | - | NC_000016.10 | (53598152..53703858, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | XR_007064861.1 | - | NC_000016.10 | (53598152..53703858, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | XR_007064862.1 | - | NC_000016.10 | (53598152..53703858, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | XR_933260.4 | - | NC_000016.10 | (53598152..53703858, 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 RPGRIP1 like (RPGRIP1L) 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 | IPI | enables | protein binding | Function | 17558407 19430481 21565611 26638075 27173435 33961781 40739040 |
| 2 | Homo sapiens | IDA | located_in | cytoplasm | Component | 17558409 |
| 3 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 4 | Homo sapiens | IDA | located_in | centrosome | Component | 17558409 21399614 |
| 5 | Homo sapiens | IEA | located_in | centrosome | Component | - |
| 6 | Homo sapiens | IDA | located_in | cytosol | Component | - |
| 7 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 8 | Homo sapiens | IDA | located_in | cell-cell junction | Component | 21565611 |
| 9 | Homo sapiens | IEA | located_in | bicellular tight junction | Component | - |
| 10 | Homo sapiens | IDA | located_in | cilium | Component | 17558409 |
| 11 | Homo sapiens | IDA | located_in | axoneme | Component | 17558409 |
| 12 | Homo sapiens | IEA | located_in | axoneme | Component | - |
| 13 | Homo sapiens | IEA | involved_in | regulation of signal transduction | Process | - |
| 14 | Homo sapiens | IBA | enables | thromboxane A2 receptor binding | Function | - |
| 15 | Homo sapiens | IPI | enables | thromboxane A2 receptor binding | Function | 19464661 |
| 16 | Homo sapiens | IBA | is_active_in | photoreceptor connecting cilium | Component | - |
| 17 | Homo sapiens | IDA | located_in | ciliary transition zone | Component | 26595381 |
| 18 | Homo sapiens | IEA | located_in | ciliary transition zone | Component | - |
| 19 | Homo sapiens | NAS | located_in | ciliary transition zone | Component | 28401750 |
| 20 | Homo sapiens | IDA | located_in | ciliary basal body | Component | 17558409 |
| 21 | Homo sapiens | IEA | located_in | ciliary basal body | Component | - |
| 22 | Homo sapiens | IDA | involved_in | negative regulation of G protein-coupled receptor signaling pathway | Process | 19464661 |
| 23 | Homo sapiens | IBA | involved_in | retinal rod cell development | Process | - |
| 24 | Homo sapiens | NAS | involved_in | protein localization to ciliary transition zone | Process | 28401750 |
| 25 | Homo sapiens | IBA | involved_in | non-motile cilium assembly | Process | - |