RAB11FIP5 Gene: RAB11 Family Interacting Protein 5
Key regulator of endocytic recycling and vesicle trafficking
Gene Information Card
| Symbol | RAB11FIP5 |
|---|---|
| Full Name | RAB11 family interacting protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.2 |
| NCBI Gene ID | 26056 ncbi.nlm.nih.gov/gene/26056 |
| Ensembl ID | ENSG00000163082 |
| UniProt ID | Q9BXF6 |
| OMIM ID | 611700 |
| HGNC ID | 30258 |
| Aliases | GAF1, pp75, RAB11FIP5 |
Description
RAB11FIP5 (RAB11 family interacting protein 5) encodes a protein that belongs to the RAB11 family of interacting proteins. It functions as an effector of RAB11, a small GTPase involved in endocytic recycling and vesicle trafficking. The protein localizes to recycling endosomes and is implicated in the regulation of membrane transport, cell migration, and signal transduction. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RAB11FIP5 overexpression promotes tumor growth and metastasis via enhanced recycling of growth factor receptors | PMID: 25605248 |
| Colorectal cancer | Upregulation of RAB11FIP5 correlates with poor prognosis and increased cell proliferation | PMID: 28407146 |
| Alzheimer's disease | RAB11FIP5 dysfunction may impair amyloid precursor protein trafficking and contribute to Aβ accumulation | PMID: 22956769 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.4 | High |
| Breast | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.5 | High expression |
| A549 (lung cancer) | 11.2 | Moderate expression |
| HEK293 (embryonic kidney) | 14.0 | Moderate expression |
| HepG2 (liver cancer) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown functional impact |
| c.1573_1574insA (p.Thr525Asnfs*2) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr525Asnfs*2) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported in RAB11FIP5.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for RAB11FIP5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endocytic recycling (RAB11-dependent)
• Vesicle-mediated transport
Protein Summary
The RAB11FIP5 protein (UniProt Q9BXF6) is a 649-amino acid polypeptide that contains a C-terminal RAB11-binding domain. It localizes to recycling endosomes and interacts with RAB11 to regulate the recycling of internalized receptors and lipids back to the plasma membrane. The protein also plays a role in cell migration and cytokinesis. Its expression is enriched in testis and brain, and dysregulation has been linked to cancer and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB11FIP5 Knockout HEK293 Cell Line | EDJ-KQ8383 | Human | 26056 | Details Get a Quote |
| RAB11FIP5 Knockout A-549 Cell Line | EDJ-KQ34437 | Human | 26056 | Details Get a Quote |
| RAB11FIP5 Knockout HCT 116 Cell Line | EDJ-KQ34438 | Human | 26056 | Details Get a Quote |
| RAB11FIP5 Knockout HeLa Cell Line | EDJ-KQ34439 | Human | 26056 | Details Get a Quote |
