RBP1: Retinol Binding Protein 1
Cellular retinol-binding protein 1 involved in vitamin A metabolism and transport
Gene Information Card
| Symbol | RBP1 |
|---|---|
| Full Name | Retinol Binding Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q23 |
| NCBI Gene ID | 5947 ncbi.nlm.nih.gov/gene/5947 |
| Ensembl ID | ENSG00000114115 |
| UniProt ID | P09455 |
| OMIM ID | 180260 |
| HGNC ID | 9920 |
| Aliases | CRBP1, CRBP, RBPC |
Description
RBP1 encodes cellular retinol-binding protein 1 (CRBP1), a cytosolic protein that binds retinol (vitamin A) and facilitates its intracellular transport, storage, and metabolism. CRBP1 is essential for retinol esterification and oxidation to retinoic acid, regulating retinoid signaling pathways involved in cell growth, differentiation, and vision. The gene is located on chromosome 3q23 and is expressed in liver, kidney, and other tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis Pigmentosa | Impaired retinol transport in retinal pigment epithelium leads to photoreceptor degeneration | ClinVar, OMIM |
| Cancer (various) | Loss of CRBP1 expression reduces retinoic acid signaling, promoting tumorigenesis | COSMIC, PubMed |
| Vitamin A Deficiency | Reduced cellular retinol uptake and storage disrupts systemic retinoid homeostasis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Retina | 6.7 | Medium |
| Small Intestine | 5.1 | Medium |
| Lung | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| ARPE-19 | 7.8 | Retinal pigment epithelial cells |
| HEK293 | 4.5 | Embryonic kidney cells |
| MCF7 | 1.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Alters start codon; loss of protein expression |
| c.200C>T | Nonsense | <0.01% | Premature stop; loss of function |
| c.350G>A | Missense | <0.01% | p.Gly117Asp; reduced retinol binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate CRBP1, abolishing retinol binding and transport.
Gain of Function (GOF)
Not reported; no activating mutations documented.
Dominant Negative (DN)
Not reported; no dominant-negative variants known.
View complete mutation data：
Gene Ontology (GO)
| • retinol binding (GO:0005501) | • retinal binding (GO:0016918) |
| • transporter activity (GO:0005215) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • retinoid metabolic process (GO:0001523) |
| • retinol metabolic process (GO:0042572) | • response to stimulus (GO:0050896) |
Pathways
• Retinol metabolism (Reactome: R-HSA-975634)
• Vitamin A and carotenoid metabolism (KEGG: hsa00830)
• Retinoic acid signaling pathway (WikiPathways: WP3301)
Protein Summary
CRBP1 is a 15.6 kDa cytosolic protein that binds all-trans-retinol with high affinity. It delivers retinol to enzymes for esterification (LRAT) or oxidation (ADH, RDH), regulating retinoid homeostasis. CRBP1 is highly expressed in liver, kidney, and retinal pigment epithelium. Loss of CRBP1 is associated with impaired vision and increased cancer risk.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBP1 Knockout HEK293 Cell Line | EDJ-KQ4896 | Human | 5947 | Details Get a Quote |
| RBP1 Knockout A-549 Cell Line | EDJ-KQ28978 | Human | 5947 | Details Get a Quote |
| RBP1 Knockout HCT 116 Cell Line | EDJ-KQ28979 | Human | 5947 | Details Get a Quote |
| RBP1 Knockout HeLa Cell Line | EDJ-KQ28980 | Human | 5947 | Details Get a Quote |
