Retinaldehyde binding protein 1 (RLBP1) Associated conditions: 1. Retinitis pigmentosa
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_000326.5 | NP_000317.1 | NC_000015.10 | (89209868..89221578, complement) | Reference GRCh38.p14 Primary Assembly | P12271 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Retinaldehyde binding protein 1 (RLBP1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Retinaldehyde binding protein 1 (RLBP1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | enables | 11-cis retinal binding | Function | - |
| 2 | Homo sapiens | IPI | enables | protein binding | Function | 32296183 |
| 3 | Homo sapiens | IDA | located_in | nucleoplasm | Component | - |
| 4 | Homo sapiens | IDA | located_in | centrosome | Component | - |
| 5 | Homo sapiens | IDA | located_in | cytosol | Component | - |
| 6 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 7 | Homo sapiens | TAS | involved_in | vitamin A metabolic process | Process | 9326942 |
| 8 | Homo sapiens | IEA | involved_in | visual perception | Process | - |
| 9 | Homo sapiens | IEA | enables | retinol binding | Function | - |
| 10 | Homo sapiens | IEA | located_in | cell body | Component | - |
| 11 | Homo sapiens | IEA | involved_in | response to stimulus | Process | - |
| 12 | Homo sapiens | IBA | enables | phosphatidylinositol bisphosphate binding | Function | 21873635 |