RABL3
RAB, Member RAS Oncogene Family-Like 3
Gene Information Card
| Symbol | RABL3 |
|---|---|
| Full Name | RAB, Member RAS Oncogene Family-Like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.2 |
| NCBI Gene ID | 285282 ncbi.nlm.nih.gov/gene/285282 |
| Ensembl ID | ENSG00000144677 |
| UniProt ID | Q5VTY6 |
| OMIM ID | 618152 |
| HGNC ID | 24758 |
| Aliases | FLJ32312, MGC138290, RABL3A |
Description
RABL3 (RAB, Member RAS Oncogene Family-Like 3) encodes a member of the RAS superfamily of small GTPases. The protein is involved in ciliary transport and vesicle trafficking. Mutations in RABL3 are associated with Joubert syndrome and have been implicated in susceptibility to pancreatic cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | Loss-of-function mutations impair ciliary protein trafficking, leading to cerebellar and retinal defects | OMIM #618152; PMID: 31006510 |
| Pancreatic cancer | Germline RABL3 mutations accelerate KRAS-driven tumorigenesis by disrupting ciliary signaling | PMID: 31006510; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Brain | 8.3 | Low |
| Testis | 6.7 | Low |
| Kidney | 5.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 | 15.2 | Pancreatic cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| A549 | 6.1 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69*) | Nonsense | Rare | Loss of function; associated with Joubert syndrome |
| c.494A>G (p.Tyr165Cys) | Missense | Rare | Gain of function; linked to pancreatic cancer risk |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg69*) lead to truncated protein and impaired ciliary trafficking, causing Joubert syndrome.
Gain of Function (GOF)
Missense mutations (e.g., p.Tyr165Cys) enhance RABL3 activity, promoting KRAS-driven pancreatic tumorigenesis.
Dominant Negative (DN)
Not reported for RABL3.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • Intracellular protein transport (GO:0006886) | • Cilium assembly (GO:0060271) |
| • Regulation of cell cycle (GO:0051726) |
Pathways
• RAB GTPase signaling
• Ciliary trafficking pathway
• RAS signaling (via KRAS interaction)
Protein Summary
RABL3 is a small GTPase of the RAS superfamily that localizes to cilia and regulates vesicular transport. It interacts with the exocyst complex and modulates ciliary membrane composition. Mutations in RABL3 disrupt ciliary function and can promote oncogenic KRAS signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RABL3 Knockout HEK293 Cell Line | EDJ-KQ12058 | Human | 285282 | Details Get a Quote |
| RABL3 Knockout A-549 Cell Line | EDJ-KQ39440 | Human | 285282 | Details Get a Quote |
| RABL3 Knockout HCT 116 Cell Line | EDJ-KQ40701 | Human | 285282 | Details Get a Quote |
| RABL3 Knockout HeLa Cell Line | EDJ-KQ40702 | Human | 285282 | Details Get a Quote |
