RAB14: A Key Regulator of Vesicular Trafficking and Its Implications in Cancer and Development
Comprehensive genomic and proteomic overview of RAB14, a member of the RAS oncogene family, with emphasis on its role in membrane trafficking, disease associations, and expression patterns.
Gene Information Card
| Symbol | RAB14 |
|---|---|
| Full Name | RAB14, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 9q33.2 |
| NCBI Gene ID | 5152 ncbi.nlm.nih.gov/gene/5152 |
| Ensembl ID | ENSG00000131374 |
| UniProt ID | P61106 |
| OMIM ID | 612059 |
| HGNC ID | 9766 |
| Aliases | RAB-14, RAB14, member RAS oncogene family |
Description
RAB14 is a small GTPase belonging to the RAS oncogene family, functioning as a key regulator of intracellular membrane trafficking. It controls vesicle budding, uncoating, motility, and fusion, particularly in endosomal and Golgi compartments. RAB14 is involved in multiple cellular processes including autophagy, cell migration, and cytokinesis. Its dysregulation has been linked to various cancers, neurodegenerative disorders, and developmental abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | RAB14 overexpression promotes tumor growth, invasion, and metastasis by enhancing vesicular trafficking of growth factors and matrix metalloproteinases. | COSMIC; multiple studies in PubMed |
| Hepatocellular carcinoma | RAB14 is upregulated and correlates with poor prognosis; silencing RAB14 reduces cell proliferation and invasion. | COSMIC; PubMed |
| Non-small cell lung cancer | RAB14 overexpression enhances cell migration and invasion via EGFR signaling. | COSMIC; PubMed |
| Colorectal cancer | RAB14 promotes epithelial-mesenchymal transition (EMT) and metastasis. | COSMIC; PubMed |
| Neurodegenerative diseases | RAB14 dysfunction may impair autophagic flux, contributing to protein aggregation. | PubMed |
| Developmental disorders | RAB14 is essential for early embryonic development; mutations may lead to congenital anomalies. | OMIM; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.1 | Medium |
| Lung | 15.3 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 18.5 | Medium |
| Testis | 25.4 | High |
| Thyroid | 22.7 | High |
| Adipose tissue | 10.2 | Low |
| Skeletal muscle | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 30.5 | High expression; used in trafficking studies |
| A549 | 28.1 | High expression; lung cancer line |
| HepG2 | 26.3 | High expression; liver cancer line |
| MCF7 | 22.4 | Moderate expression; breast cancer line |
| K562 | 18.7 | Moderate expression; leukemia line |
| SH-SY5Y | 15.2 | Moderate expression; neuroblastoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.1% | Potential effect on GTPase activity; not well characterized |
| c.456C>T (p.S152F) | Missense | 0.05% | May affect protein stability; observed in cancer samples |
| c.789G>A (p.V263M) | Missense | 0.02% | Rare; functional impact unknown |
| c.1002delC (p.L335fs) | Frameshift | 0.01% | Predicted loss of function; not observed in healthy cohorts |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in RAB14 are rare and may impair vesicular trafficking, leading to cellular dysfunction. However, no specific pathogenic loss-of-function variants have been clinically validated.
Gain of Function (GOF)
Gain-of-function mutations are not well documented; overexpression is more common in cancer, suggesting a proto-oncogenic role rather than activating mutations.
Dominant Negative (DN)
Dominant-negative mutations have been experimentally created (e.g., GDP-bound mutants) to study RAB14 function, but natural dominant-negative mutations are not reported in human diseases.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GDP binding |
| • GTPase activity | • protein transport |
| • intracellular protein transport | • vesicle-mediated transport |
| • endosome to Golgi transport | • early endosome membrane |
| • Golgi membrane | • cytoplasm |
| • cytosol | • plasma membrane |
Pathways
• Endocytosis
• Autophagy
• Vesicular trafficking
• Membrane trafficking
• RAB protein signaling
Protein Summary
RAB14 is a 215-amino acid protein (molecular weight ~24 kDa) that belongs to the Rab subfamily of small GTPases. It cycles between an active GTP-bound and inactive GDP-bound state, regulated by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). RAB14 localizes to early endosomes, Golgi, and plasma membrane, where it regulates vesicle docking and fusion. It interacts with effectors such as PIK3C3 and RAB14IP. Post-translational modifications include prenylation at the C-terminus, essential for membrane attachment. RAB14 is ubiquitously expressed and plays a critical role in development and cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB14 Knockout HEK293 Cell Line | EDJ-KQ1884 | Human | 51552 | Details Get a Quote |
| RAB14 Knockout A-549 Cell Line | EDJ-KQ21779 | Human | 51552 | Details Get a Quote |
| RAB14 Knockout HCT 116 Cell Line | EDJ-KQ21780 | Human | 51552 | Details Get a Quote |
| RAB14 Knockout HeLa Cell Line | EDJ-KQ21781 | Human | 51552 | Details Get a Quote |
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