RAB29: A Key Regulator of Vesicle Trafficking and Parkinson's Disease Risk
Comprehensive genomic and functional analysis of RAB29, a member of the RAS oncogene family involved in endomembrane organization and neurodegeneration.
Gene Information Card
| Symbol | RAB29 |
|---|---|
| Full Name | RAB29, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 8934 ncbi.nlm.nih.gov/gene/8934 |
| Ensembl ID | ENSG00000117280 |
| UniProt ID | O14966 |
| OMIM ID | 603949 |
| HGNC ID | 9770 |
| Aliases | RAB7L1 |
Description
RAB29 (RAB7L1) encodes a member of the RAS oncogene family of small GTPases. The protein localizes to the Golgi apparatus and endosomes, regulating vesicle trafficking, endomembrane organization, and autophagy. RAB29 is a key interactor of LRRK2 and is genetically associated with increased risk for Parkinson's disease. It also plays a role in immune response and lysosomal function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | RAB29 variants (e.g., rs1572931) increase LRRK2 kinase activity and impair vesicle trafficking, leading to dopaminergic neuron vulnerability. | GWAS, functional studies (PMID: 29500350, 30595390) |
| Lewy body dementia | RAB29 risk alleles are associated with altered endolysosomal trafficking and alpha-synuclein accumulation. | Genetic association (PMID: 31015476) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.5 | Medium |
| Brain (substantia nigra) | 10.8 | Medium |
| Lung | 8.2 | Low |
| Spleen | 7.5 | Low |
| Testis | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model; high expression |
| HEK293 (embryonic kidney) | 9.1 | Moderate expression |
| HeLa (cervical carcinoma) | 7.8 | Low expression |
| K562 (leukemia) | 5.4 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1572931 (intronic) | SNP | 0.35 (European) | Risk allele for Parkinson's disease; increases LRRK2 binding |
| c.215C>T (p.Thr72Ile) | Missense | <0.01 | Rare variant; functional impact unknown |
| c.434G>A (p.Arg145Gln) | Missense | <0.01 | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg145Gln) may impair GTP binding and vesicle trafficking.
Gain of Function (GOF)
Risk allele rs1572931 enhances RAB29 recruitment of LRRK2, leading to increased kinase activity.
Dominant Negative (DN)
Not reported for RAB29.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endocytosis (Reactome: R-HSA-199991)
• Membrane Trafficking (Reactome: R-HSA-199991)
• LRRK2-mediated vesicle trafficking (KEGG: hsa05012)
Protein Summary
RAB29 is a 225-amino-acid small GTPase (UniProt O14966) that cycles between GDP-bound (inactive) and GTP-bound (active) states. It localizes to the Golgi and endosomes, regulating retrograde transport from endosomes to the Golgi. RAB29 directly binds and activates LRRK2, a kinase mutated in familial Parkinson's disease. Overexpression of RAB29 rescues LRRK2-induced neurite shortening, while loss of RAB29 impairs lysosomal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB29 Knockout HEK293 Cell Line | EDJ-KQ6408 | Human | 8934 | Details Get a Quote |
| RAB29 Knockout A-549 Cell Line | EDJ-KQ30445 | Human | 8934 | Details Get a Quote |
| RAB29 Knockout HCT 116 Cell Line | EDJ-KQ30446 | Human | 8934 | Details Get a Quote |
| RAB29 Knockout HeLa Cell Line | EDJ-KQ30447 | Human | 8934 | Details Get a Quote |
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