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: 6017
MIM: 180090
HGNC: 10024
Ensembl: ENSG00000140522
Variants:
dbSNP: 6017
ClinVar: 6017
TCGA: ENSG00000140522
COSMIC: RLBP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000140522 | ENST00000268125 | P12271 |
| ENSG00000140522 | ENST00000563254 | H3BN92 |
| ENSG00000140522 | ENST00000567787 | H3BTN3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34115091 | 2021 | Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium. | 0 |
| 34410188 | 2021 | Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens. | 0 |
| 34115091 | 2021 | Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium. | 0 |
| 34410188 | 2021 | Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens. | 0 |
| 32188692 | 2020 | Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice. | 17 |
| 32587456 | 2020 | Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees. | 5 |
| 32188692 | 2020 | Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice. | 17 |
| 32587456 | 2020 | Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees. | 5 |
| 28096191 | 2017 | Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2. | 10 |
| 28764803 | 2017 | A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens. | 25 |
| 28813576 | 2017 | Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1. | 13 |
| 28096191 | 2017 | Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2. | 10 |
| 28764803 | 2017 | A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens. | 25 |
| 28813576 | 2017 | Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1. | 13 |
| 26876013 | 2016 | Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium. | 21 |
Citation
Dessen P
RLBP1 (retinaldehyde binding protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-09-01
Online version: http://atlasgeneticsoncology.org/gene/54850/rlbp1-(retinaldehyde-binding-protein-1)
