RAB11A
Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB11A |
|---|---|
| Full Name | RAB11A, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 8766 ncbi.nlm.nih.gov/gene/8766 |
| Ensembl ID | ENSG00000103769 |
| UniProt ID | P62491 |
| OMIM ID | 605570 |
| HGNC ID | 9760 |
| Aliases | YL8, RAB11A, RAB11 |
Description
RAB11A is a small GTPase of the Rab family that regulates endocytic recycling, exocytosis, and membrane trafficking. It controls the recycling of internalized receptors and lipids back to the plasma membrane and is involved in cytokinesis, cell migration, and autophagy. RAB11A functions as a molecular switch, cycling between an active GTP-bound state and an inactive GDP-bound state, and is essential for maintaining cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RAB11A overexpression promotes recycling of growth factor receptors, enhancing proliferative signaling | PMID: 25609832 |
| Lung cancer | Altered RAB11A expression correlates with increased invasiveness and metastasis | PMID: 27150010 |
| Neurodegenerative disorders | RAB11A dysfunction impairs endosomal recycling, contributing to tau and amyloid-beta pathology | PMID: 28886341 |
| Charcot-Marie-Tooth disease | RAB11A mutations disrupt axonal membrane trafficking, leading to peripheral neuropathy | PMID: 24375884 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.2 | Medium |
| Lung | 12.5 | Medium |
| Liver | 8.9 | Low |
| Kidney | 15.3 | Medium |
| Heart | 10.1 | Medium |
| Skeletal muscle | 6.7 | Low |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 20.5 | Cervical cancer cell line |
| A549 | 14.8 | Lung cancer cell line |
| HEK293 | 17.3 | Embryonic kidney cell line |
| MCF7 | 19.1 | Breast cancer cell line |
| SH-SY5Y | 16.2 | Neuroblastoma cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.80G>A (p.Arg27Gln) | Missense | <0.01% | Altered GTP binding and reduced recycling efficiency |
| c.215C>T (p.Thr72Met) | Missense | <0.01% | Impaired membrane localization and trafficking |
| c.337G>A (p.Glu113Lys) | Missense | <0.01% | Dominant-negative effect on endosomal recycling |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair GTP binding or hydrolysis reduce RAB11A activity, leading to defective recycling and accumulation of cargo in endosomes.
Gain of Function (GOF)
Not well characterized; some overexpression studies suggest enhanced recycling and oncogenic signaling.
Dominant Negative (DN)
Mutations such as p.Glu113Lys produce a dominant-negative form that sequesters effectors and blocks recycling pathways.
View complete mutation data:
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • protein transport | • intracellular protein transport |
| • endosomal transport | • recycling endosome |
| • membrane | • cytoplasm |
| • Golgi apparatus | • cell division |
Pathways
• Endosomal recycling pathway
• Rab11-mediated recycling
• EGFR recycling
• Autophagy
• Cytokinesis
Protein Summary
RAB11A is a 24 kDa small GTPase that localizes primarily to recycling endosomes and the trans-Golgi network. It regulates the slow recycling of internalized receptors (e.g., transferrin receptor, EGFR) and lipids back to the plasma membrane. RAB11A interacts with multiple effectors including Rab11-FIPs, myosin Vb, and Sec15, and is critical for cell polarity, migration, and cytokinesis. Its dysregulation is implicated in cancer and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB11A Knockout HEK293 Cell Line | EDJ-KQ994 | Human | 8766 | Details Get a Quote |
| RAB11A Knockout A-549 Cell Line | EDJ-KQ20026 | Human | 8766 | Details Get a Quote |
| RAB11A Knockout HCT 116 Cell Line | EDJ-KQ20027 | Human | 8766 | Details Get a Quote |
| RAB11A Knockout HeLa Cell Line | EDJ-KQ20028 | Human | 8766 | Details Get a Quote |
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