TUB like protein 1 (TULP1) 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_001289395.2 | NP_001276324.1 | NC_000006.12 | (35497873..35512895, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_003322.6 | NP_003313.3 | NC_000006.12 | (35497873..35512895, 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 TUB like protein 1 (TULP1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene TUB like protein 1 (TULP1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | located_in | photoreceptor outer segment | Component | - |
| 2 | Homo sapiens | ISS | located_in | photoreceptor outer segment | Component | - |
| 3 | Homo sapiens | IMP | involved_in | retina homeostasis | Process | 15557452 |
| 4 | Homo sapiens | IEA | located_in | photoreceptor inner segment | Component | - |
| 5 | Homo sapiens | ISS | located_in | photoreceptor inner segment | Component | - |
| 6 | Homo sapiens | IPI | enables | protein binding | Function | 17474147 |
| 7 | Homo sapiens | IDA | enables | phosphatidylinositol-4,5-bisphosphate binding | Function | 16303976 |
| 8 | Homo sapiens | IEA | located_in | extracellular region | Component | - |
| 9 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 10 | Homo sapiens | IEA | located_in | cytosol | Component | - |
| 11 | Homo sapiens | IDA | located_in | plasma membrane | Component | 16303976 |
| 12 | Homo sapiens | IEA | located_in | plasma membrane | Component | - |
| 13 | Homo sapiens | IBA | is_active_in | cilium | Component | - |
| 14 | Homo sapiens | IEA | involved_in | phagocytosis | Process | - |
| 15 | Homo sapiens | IEA | involved_in | visual perception | Process | - |
| 16 | Homo sapiens | TAS | involved_in | visual perception | Process | 9462750 |
| 17 | Homo sapiens | IEA | involved_in | dendrite development | Process | - |
| 18 | Homo sapiens | ISS | involved_in | dendrite development | Process | - |
| 19 | Homo sapiens | IEA | involved_in | eye photoreceptor cell development | Process | - |
| 20 | Homo sapiens | ISS | involved_in | eye photoreceptor cell development | Process | - |
| 21 | Homo sapiens | IDA | located_in | cell projection | Component | 16303976 |
| 22 | Homo sapiens | IEA | located_in | axon terminus | Component | - |
| 23 | Homo sapiens | IEA | located_in | synapse | Component | - |
| 24 | Homo sapiens | ISS | located_in | synapse | Component | - |
| 25 | Homo sapiens | IEA | involved_in | photoreceptor cell maintenance | Process | - |
| 26 | Homo sapiens | ISS | involved_in | photoreceptor cell maintenance | Process | - |
| 27 | Homo sapiens | IDA | involved_in | positive regulation of phagocytosis | Process | 19837063 |
| 28 | Homo sapiens | IMP | involved_in | detection of light stimulus involved in visual perception | Process | 15557452 |
| 29 | Homo sapiens | IBA | enables | actin filament binding | Function | - |
| 30 | Homo sapiens | IDA | enables | actin filament binding | Function | 16303976 |
| 31 | Homo sapiens | IBA | involved_in | protein localization to cilium | Process | - |