RAB24: A Member of the RAS Oncogene Family Involved in Autophagy
Comprehensive genomic and proteomic overview of RAB24, a small GTPase implicated in intracellular trafficking and neurodegenerative diseases.
Gene Information Card
| Symbol | RAB24 |
|---|---|
| Full Name | RAB24, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 5q22.3 |
| NCBI Gene ID | 53917 ncbi.nlm.nih.gov/gene/53917 |
| Ensembl ID | ENSG00000113558 |
| UniProt ID | Q969Q5 |
| OMIM ID | 612966 |
| HGNC ID | 9768 |
| Aliases | RAB24, member RAS oncogene family; RAB24, member RAS oncogene family; RAB24, member RAS oncogene family |
Description
RAB24 is a member of the RAS oncogene family of small GTPases. It is involved in intracellular vesicle trafficking, particularly in the autophagy pathway. RAB24 localizes to autophagic vacuoles and is implicated in the maturation of autophagosomes. Its expression is enriched in the brain, and alterations in RAB24 function have been linked to neurodegenerative disorders such as Alzheimer's disease and Parkinson's disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | Impaired autophagy and accumulation of autophagic vacuoles due to RAB24 dysfunction | PMID: 21550333 |
| Parkinson's disease | Dysregulation of RAB24-mediated autophagy in dopaminergic neurons | PMID: 23416113 |
| Huntington's disease | Altered RAB24 expression in striatal cells affecting autophagic flux | PMID: 21965308 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Not detected |
| Heart | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in autophagy studies |
| HeLa (cervical carcinoma) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 7.4 | Low expression |
| U87MG (glioblastoma) | 11.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Cys) | Missense | <0.01% | Unknown; predicted benign by SIFT |
| c.458G>A (p.Arg153His) | Missense | <0.01% | Unknown; predicted possibly damaging by PolyPhen-2 |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutation (p.Met1Val) likely abolishes protein translation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Autophagy - RAB24 is involved in autophagosome formation and maturation.
• Endocytosis - RAB24 regulates vesicle trafficking from endosomes to lysosomes.
Protein Summary
RAB24 is a small GTPase of the Rab family, approximately 22 kDa in size. It cycles between an active GTP-bound state and an inactive GDP-bound state. RAB24 is predominantly localized to the Golgi apparatus and autophagic vacuoles. It interacts with ATG proteins and is essential for autophagosome-lysosome fusion. Post-translational modifications include prenylation at the C-terminus, which is critical for membrane association.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB24 Knockout HEK293 Cell Line | EDJ-KQ11367 | Human | 53917 | Details Get a Quote |
| RAB24 Knockout A-549 Cell Line | EDJ-KQ39556 | Human | 53917 | Details Get a Quote |
| RAB24 Knockout HCT 116 Cell Line | EDJ-KQ39557 | Human | 53917 | Details Get a Quote |
| RAB24 Knockout HeLa Cell Line | EDJ-KQ39558 | Human | 53917 | Details Get a Quote |
