RAB11FIP3
RAB11 Family Interacting Protein 3
Gene Information Card
| Symbol | RAB11FIP3 |
|---|---|
| Full Name | RAB11 family interacting protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 9727 ncbi.nlm.nih.gov/gene/9727 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | O75154 |
| OMIM ID | 608738 |
| HGNC ID | 30224 |
| Aliases | arfophilin, FIP3, Rab11-FIP3 |
Description
RAB11FIP3 encodes a member of the Rab11 family of interacting proteins. The protein is involved in endosomal recycling and cytokinesis, functioning as an effector of Rab11 and Arf GTPases. It localizes to recycling endosomes and the midbody during cell division, playing a critical role in membrane trafficking and abscission.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may disrupt cytokinesis and endosomal trafficking, contributing to tumorigenesis | COSMIC; literature |
| Intellectual disability | Potential role in neurodevelopment via endosomal recycling defects | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| A549 | 10.1 | Lung cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cell line |
| MCF7 | 7.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.01% | Unknown; predicted benign |
| c.567_568insA | frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense variants predicted to truncate the protein, impairing endosomal recycling and cytokinesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • endosomal transport | • cytokinesis |
| • protein binding | • Rab GTPase binding |
| • cytoplasm | • midbody |
| • recycling endosome |
Pathways
• Endosomal recycling (RAB11 pathway)
• Cytokinesis (abscission)
Protein Summary
RAB11FIP3 (arfophilin) is a 756-amino acid protein that contains a C-terminal RAB11-binding domain and an N-terminal Arf-binding domain. It localizes to recycling endosomes and the midbody, where it coordinates membrane trafficking during cytokinesis. The protein is essential for proper cell division and receptor recycling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB11FIP3 Knockout HEK293 Cell Line | EDJ-KQ6715 | Human | 9727 | Details Get a Quote |
| RAB11FIP3 Knockout A-549 Cell Line | EDJ-KQ31085 | Human | 9727 | Details Get a Quote |
| RAB11FIP3 Knockout HCT 116 Cell Line | EDJ-KQ31086 | Human | 9727 | Details Get a Quote |
| RAB11FIP3 Knockout HeLa Cell Line | EDJ-KQ31087 | Human | 9727 | Details Get a Quote |
