Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6101
MIM: 603937
HGNC: 10263
Ensembl: ENSG00000104237
Variants:
dbSNP: 6101
ClinVar: 6101
TCGA: ENSG00000104237
COSMIC: RP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000104237 | ENST00000220676 | P56715 |
| ENSG00000104237 | ENST00000636932 | A0A1B0GTV9 |
| ENSG00000104237 | ENST00000637698 | A0A1B0GUH0 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38399542 | 2024 | RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily. | 0 |
| 38399542 | 2024 | RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily. | 0 |
| 36341727 | 2023 | Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS). | 1 |
| 37843894 | 2023 | LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population. | 0 |
| 36341727 | 2023 | Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS). | 1 |
| 37843894 | 2023 | LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population. | 0 |
| 34183725 | 2021 | In Silico identification of a common mobile element insertion in exon 4 of RP1. | 3 |
| 34183725 | 2021 | In Silico identification of a common mobile element insertion in exon 4 of RP1. | 3 |
| 32005865 | 2020 | Retinitis Pigmentosa Due to Rp1 Biallelic Variants. | 8 |
| 32193659 | 2020 | A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa. | 7 |
| 32587456 | 2020 | Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees. | 5 |
| 32627106 | 2020 | Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants. | 8 |
| 32005865 | 2020 | Retinitis Pigmentosa Due to Rp1 Biallelic Variants. | 8 |
| 32193659 | 2020 | A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa. | 7 |
| 32587456 | 2020 | Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees. | 5 |
Citation
Dessen P
RP1 (RP1 axonemal microtubule associated)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72769/rp1-(rp1-axonemal-microtubule-associated)
