RLBP1 Gene: Retinaldehyde Binding Protein 1
Key player in the visual cycle and retinitis pigmentosa
Gene Information Card
| Symbol | RLBP1 |
|---|---|
| Full Name | Retinaldehyde Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 6017 ncbi.nlm.nih.gov/gene/6017 |
| Ensembl ID | ENSG00000140522 |
| UniProt ID | P12271 |
| OMIM ID | 180090 |
| HGNC ID | 10024 |
| Aliases | CRALBP, CRBP3, MGC20263 |
Description
The RLBP1 gene encodes cellular retinaldehyde-binding protein (CRALBP), a 36-kDa soluble protein that acts as a carrier for 11-cis-retinol and 11-cis-retinaldehyde in the retinal pigment epithelium (RPE) and Müller cells of the retina. CRALBP is essential for the visual cycle, facilitating the isomerization of all-trans-retinol to 11-cis-retinol and the transport of retinoids between cellular compartments. Mutations in RLBP1 cause autosomal recessive retinopathies, including retinitis pigmentosa, fundus albipunctatus, Bothnia dystrophy, and Newfoundland rod-cone dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal recessive) | Loss of CRALBP function disrupts 11-cis-retinal regeneration, leading to rod and cone degeneration | ClinVar, OMIM #180090 |
| Fundus albipunctatus | Impaired dark adaptation due to delayed regeneration of rhodopsin; caused by RLBP1 mutations | ClinVar, OMIM #136880 |
| Bothnia dystrophy | Specific RLBP1 founder mutation (c.700C>T, p.Arg234Trp) leads to progressive retinal degeneration with white dots | OMIM #607475 |
| Newfoundland rod-cone dystrophy | Founder mutation (c.893C>T, p.Ala298Val) causes early-onset night blindness and macular atrophy | OMIM #607476 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Retinal pigment epithelium | 8.2 | Medium |
| Brain (cerebellum) | 1.1 | Low |
| Testis | 0.8 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (RPE cell line) | 10.1 | High expression |
| Müller glial cells (primary) | 9.5 | High expression |
| HeLa | 0.2 | Not detected |
| HEK293 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.700C>T (p.Arg234Trp) | Missense | Founder in Bothnia dystrophy | Disrupts retinoid binding and protein stability |
| c.893C>T (p.Ala298Val) | Missense | Founder in Newfoundland | Impairs 11-cis-retinal binding |
| c.525T>A (p.Cys175*) | Nonsense | Rare | Premature truncation, loss of function |
| c.119G>A (p.Arg40Gln) | Missense | Rare | Reduced affinity for 11-cis-retinol |
Mutation functional classification
Loss of Function (LOF)
Most RLBP1 mutations are loss-of-function, leading to reduced or absent CRALBP activity, impaired retinoid transport, and retinal degeneration.
Gain of Function (GOF)
No gain-of-function mutations reported for RLBP1.
Dominant Negative (DN)
No dominant-negative mutations reported; all disease-associated mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid binding (GO:0005504) | • retinol binding (GO:0019841) |
| • visual perception (GO:0007601) | • retinoid metabolic process (GO:0001523) |
| • cytoplasm (GO:0005737) | • intracellular anatomical structure (GO:0005622) |
Pathways
• Visual cycle (RPE cells) – Reactome R-HSA-2453902
• Retinoid metabolism and transport – KEGG hsa00830
Protein Summary
Cellular retinaldehyde-binding protein (CRALBP) is a 316-amino acid protein that specifically binds 11-cis-retinaldehyde and 11-cis-retinol. It is localized in the cytoplasm of RPE and Müller cells, where it facilitates the isomerization and transport of retinoids essential for phototransduction. CRALBP belongs to the CRAL_TRIO domain family and contains a lipid-binding pocket. Mutations in RLBP1 disrupt the visual cycle, causing autosomal recessive retinal dystrophies characterized by night blindness, progressive vision loss, and characteristic fundus findings.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RLBP1 Knockout HEK293 Cell Line | EDJ-KQ5673 | Human | 6017 | Details Get a Quote |
| RLBP1 Knockout HeLa Cell Line | EDJ-KQ54327 | Human | 6017 | Details Get a Quote |
| RLBP1 Knockout A-549 Cell Line | EDJ-KQ62821 | Human | 6017 | Details Get a Quote |
| RLBP1 Knockout HCT 116 Cell Line | EDJ-KQ71286 | Human | 6017 | Details Get a Quote |
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