RBP5: Retinol Binding Protein 5
Cellular Retinol-Binding Protein Involved in Vitamin A Metabolism and Transport
Gene Information Card
| Symbol | RBP5 |
|---|---|
| Full Name | Retinol Binding Protein 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 83758 ncbi.nlm.nih.gov/gene/83758 |
| Ensembl ID | ENSG00000139194 |
| UniProt ID | Q96S55 |
| OMIM ID | 608076 |
| HGNC ID | 30228 |
| Aliases | CRBPIII, CRBP3 |
Description
RBP5 (Retinol Binding Protein 5) encodes a member of the cellular retinol-binding protein (CRBP) family, specifically CRBPIII. This intracellular protein binds retinol (vitamin A) with high affinity and facilitates its transport, storage, and metabolism within cells. RBP5 is expressed in various tissues including liver, kidney, and adipose tissue, playing a key role in retinoid homeostasis and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitamin A deficiency disorders | Impaired retinol binding and transport may contribute to altered retinoid homeostasis | Inferred from functional similarity to other CRBPs (UniProt) |
| Obesity and metabolic syndrome | RBP5 expression in adipose tissue is associated with lipid metabolism and insulin sensitivity | Expression studies (NCBI Gene) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Adipose tissue | 7.2 | Low |
| Small intestine | 6.1 | Low |
| Heart | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| HEK293 | 4.5 | Embryonic kidney cells |
| 3T3-L1 | 8.3 | Adipocyte precursor cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact (rare variant) |
| c.200C>T | Synonymous | <0.01% | No predicted effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • retinol binding (GO:0005501) | • retinol binding (GO:0019841) |
| • retinoid metabolic process (GO:0001523) | • retinol metabolic process (GO:0042572) |
| • cytoplasm (GO:0005737) |
Pathways
• Retinol metabolism (Reactome: R-HSA-975634)
• Vitamin A and carotenoid metabolism (KEGG: hsa00830)
Protein Summary
Retinol-binding protein 5 (RBP5), also known as CRBPIII, is a 15.6 kDa intracellular protein that binds all-trans-retinol with high specificity. It is primarily localized in the cytoplasm and participates in retinoid transport and metabolism. The protein structure includes a beta-barrel domain typical of lipocalin family members, with a retinol-binding pocket. RBP5 is expressed in liver, kidney, and adipose tissue, and its expression is regulated by nutritional and hormonal signals.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBP5 Knockout HEK293 Cell Line | EDJ-KQ9901 | Human | 83758 | Details Get a Quote |
| RBP5 Knockout HCT 116 Cell Line | EDJ-KQ35588 | Human | 83758 | Details Get a Quote |
| RBP5 Knockout A-549 Cell Line | EDJ-KQ36786 | Human | 83758 | Details Get a Quote |
| RBP5 Knockout HeLa Cell Line | EDJ-KQ36788 | Human | 83758 | Details Get a Quote |
