RABEP1: RAB GTPase Binding Effector Protein 1
Key regulator of endocytic trafficking and receptor signaling
Gene Information Card
| Symbol | RABEP1 |
|---|---|
| Full Name | RAB GTPase Binding Effector Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 9135 ncbi.nlm.nih.gov/gene/9135 |
| Ensembl ID | ENSG00000029789 |
| UniProt ID | Q15276 |
| OMIM ID | 603616 |
| HGNC ID | 9772 |
| Aliases | rabaptin-5, RAB5EP, RABAPTIN5 |
Description
RABEP1 encodes rabaptin-5, a cytoplasmic protein that binds to activated RAB5 and RAB4 GTPases. It functions as a key effector in early endosome fusion and endocytic trafficking by linking RAB5 to the endosomal tethering complex. Rabaptin-5 also interacts with other proteins such as GAPVD1 and is involved in receptor recycling, including EGFR and transferrin receptor. The gene is ubiquitously expressed and plays a role in cell signaling, membrane transport, and neuronal function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of RABEP1 enhances EGFR recycling and signaling, promoting tumor growth | PMID: 23431136 |
| Alzheimer's disease | Altered RABEP1 expression affects endosomal trafficking of amyloid precursor protein | PMID: 21533022 |
| Intellectual disability | RABEP1 mutations disrupt endosomal trafficking in neurons | ClinVar: RCV000022543 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Kidney | 14.1 | Medium |
| Heart | 11.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| HEK293 | 16.2 | Embryonic kidney cells |
| SH-SY5Y | 14.8 | Neuroblastoma cell line |
| MCF7 | 20.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.001% | Reduced binding to RAB5, impaired endosome fusion |
| c.567_569del (p.Lys189del) | Deletion | <0.001% | Loss of function, dominant negative effect |
| c.2101G>A (p.Glu701Lys) | Missense | 0.002% | Altered interaction with GAPVD1 |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt RAB5 binding or reduce protein stability impair endosome fusion and receptor recycling.
Gain of Function (GOF)
Overexpression or activating mutations enhance EGFR recycling and signaling, contributing to oncogenesis.
Dominant Negative (DN)
Deletion mutations (e.g., p.Lys189del) produce truncated proteins that interfere with wild-type rabaptin-5 function.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • RAB5 binding |
| • endosome fusion | • early endosome to late endosome transport |
| • receptor recycling | • protein homodimerization activity |
Pathways
• Endocytosis (RAB5-mediated)
• EGFR signaling pathway
• Transferrin receptor recycling
• Alzheimer's disease (endosomal trafficking)
Protein Summary
Rabaptin-5 is a 862-amino acid protein with a coiled-coil domain that mediates homodimerization and interaction with RAB5. It contains a C-terminal domain that binds to GAPVD1 and an N-terminal region that interacts with RAB4. The protein is essential for early endosome tethering and fusion, and its dysregulation is linked to cancer and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RABEP1 Knockout HEK293 Cell Line | EDJ-KQ6470 | Human | 9135 | Details Get a Quote |
| RABEP1 Knockout A-549 Cell Line | EDJ-KQ30562 | Human | 9135 | Details Get a Quote |
| RABEP1 Knockout HCT 116 Cell Line | EDJ-KQ30563 | Human | 9135 | Details Get a Quote |
| RABEP1 Knockout HeLa Cell Line | EDJ-KQ30564 | Human | 9135 | Details Get a Quote |
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