RALBP1: RalA Binding Protein 1
A key regulator of endocytosis, cell cycle progression, and stress response, implicated in cancer and neurodegenerative diseases.
Gene Information Card
| Symbol | RALBP1 |
|---|---|
| Full Name | RalA Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.22 |
| NCBI Gene ID | 10928 ncbi.nlm.nih.gov/gene/10928 |
| Ensembl ID | ENSG00000101412 |
| UniProt ID | Q15311 |
| OMIM ID | 605277 |
| HGNC ID | 9842 |
| Aliases | RLIP76, RALBP1, RIP1, DNP-SG TP |
Description
RALBP1 (RalA Binding Protein 1) encodes a multifunctional protein that acts as a GTPase-activating protein (GAP) for RalA and RalB, and as a transporter of glutathione conjugates and xenobiotics. It is involved in receptor-mediated endocytosis, cell cycle progression, and stress response. The protein is widely expressed and has been implicated in cancer, neurodegenerative disorders, and drug resistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression promotes cell proliferation, invasion, and chemoresistance via Ral signaling and efflux of chemotherapeutic drugs. | COSMIC, ClinVar |
| Alzheimer's disease | Impaired endocytosis and accumulation of amyloid-beta; altered transporter activity. | UniProt, NCBI Gene |
| Parkinson's disease | Dysregulation of oxidative stress response and mitochondrial function. | UniProt, NCBI Gene |
| Epilepsy | Variants associated with altered neuronal excitability and drug response. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Kidney | 14.8 | Medium |
| Testis | 18.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| A549 | 11.5 | Lung cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 13.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.1% | Altered GAP activity; potential gain-of-function |
| c.454C>T (p.Arg152Trp) | Missense | <0.1% | Reduced transporter function; associated with epilepsy |
| c.1234A>G (p.Ile412Val) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Mutations impairing GAP activity or transporter function (e.g., p.Arg152Trp) reduce endocytosis and detoxification, increasing cellular stress.
Gain of Function (GOF)
Mutations enhancing Ral binding or transporter activity (e.g., p.Gly38Arg) may promote cell proliferation and chemoresistance.
Dominant Negative (DN)
Not well characterized; some variants may interfere with wild-type protein function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • ATP binding |
| • protein binding | • glutathione transmembrane transporter activity |
| • endocytosis | • cell cycle |
| • response to oxidative stress | • negative regulation of apoptotic process |
Pathways
• Ral signaling pathway
• Endocytosis
• Glutathione metabolism
• Drug resistance
Protein Summary
The RALBP1 protein (also known as RLIP76) is a 655-amino acid multifunctional protein with an N-terminal Ral-binding domain and a C-terminal ATP-binding domain. It acts as a Ral effector, regulating endocytosis and cell cycle progression, and as a non-ABC transporter for glutathione conjugates and xenobiotics. The protein is implicated in cancer cell survival, metastasis, and resistance to chemotherapy. Its expression is elevated in many tumors, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RALBP1 Knockout HEK293 Cell Line | EDJ-KQ1254 | Human | 10928 | Details Get a Quote |
| RALBP1 Knockout HeLa Cell Line | EDJ-KQ19277 | Human | 10928 | Details Get a Quote |
| RALBP1 Knockout A-549 Cell Line | EDJ-KQ20634 | Human | 10928 | Details Get a Quote |
| RALBP1 Knockout HCT 116 Cell Line | EDJ-KQ20635 | Human | 10928 | Details Get a Quote |
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