RRBP1: Ribosome Binding Protein 1
A key regulator of endoplasmic reticulum morphology and protein secretion, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | RRBP1 |
|---|---|
| Full Name | Ribosome Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p12.1 |
| NCBI Gene ID | 6238 ncbi.nlm.nih.gov/gene/6238 |
| Ensembl ID | ENSG00000125844 |
| UniProt ID | Q9P2E9 |
| OMIM ID | 611236 |
| HGNC ID | 10449 |
| Aliases | ES/130, p180, RRBP1_HUMAN |
Description
RRBP1 (Ribosome Binding Protein 1) encodes a large, membrane-associated protein that binds ribosomes and is essential for maintaining the structure of the rough endoplasmic reticulum (ER). It plays a critical role in protein translocation, secretion, and ER morphology. RRBP1 is highly expressed in secretory tissues and is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression promotes cell proliferation and metastasis | COSMIC, PubMed |
| Developmental disorders | Loss-of-function mutations disrupt ER morphology | OMIM, ClinVar |
| Neurodegenerative diseases | Altered ER stress response | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 58.2 | High |
| Salivary gland | 45.1 | High |
| Liver | 32.8 | High |
| Kidney | 18.5 | Medium |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 42.1 | Cervical cancer cell line |
| HepG2 | 38.7 | Hepatocellular carcinoma |
| MCF7 | 29.4 | Breast cancer |
| A549 | 25.6 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.2345_2346insA | Frameshift | <0.1% | Loss of function |
| c.3456G>C (p.Glu1152Asp) | Missense | 0.2% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, disrupting ER binding and ribosome attachment.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• SRP-dependent cotranslational protein targeting to membrane (Reactome: R-HSA-1799339)
Protein Summary
RRBP1 is a 1,410-amino acid transmembrane protein localized to the rough ER. It contains a ribosome-binding domain and a coiled-coil region that mediates ER membrane curvature. The protein is essential for efficient protein translocation and secretion, particularly in cells with high secretory demand.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RRBP1 Knockout HEK293 Cell Line | EDJ-KQ50598 | Human | 6238 | Details Get a Quote |
| RRBP1 Knockout HeLa Cell Line | EDJ-KQ54368 | Human | 6238 | Details Get a Quote |
| RRBP1 Knockout A-549 Cell Line | EDJ-KQ62863 | Human | 6238 | Details Get a Quote |
| RRBP1 Knockout HCT 116 Cell Line | EDJ-KQ71328 | Human | 6238 | Details Get a Quote |
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