RAB3C
RAB3C, Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB3C |
|---|---|
| Full Name | RAB3C, Member RAS Oncogene Family |
| Gene Type | protein-coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 115827 ncbi.nlm.nih.gov/gene/115827 |
| Ensembl ID | ENSG00000152932 |
| UniProt ID | Q96E17 |
| OMIM ID | 612829 |
| HGNC ID | 30268 |
| Aliases | RAB3C, RAB3Cv1, RAB3Cv2 |
Description
RAB3C is a member of the RAS oncogene family of small GTPases. It encodes a protein involved in the regulation of vesicle-mediated transport, particularly neurotransmitter release and exocytosis. RAB3C cycles between GTP-bound (active) and GDP-bound (inactive) states, controlling membrane trafficking in neurons and endocrine cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RAB3C expression may affect vesicle trafficking and signaling pathways, contributing to tumorigenesis. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodevelopmental disorders | Dysregulation of RAB3C-mediated neurotransmitter release may impact synaptic function. | ClinVar lists variants of uncertain significance in neurodevelopmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Adrenal gland | 6.1 | Low |
| Pancreas | 4.7 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
| A549 (lung carcinoma) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437A>G (p.Asn146Ser) | missense | <0.1% | Unknown functional impact |
| c.82C>T (p.Arg28Trp) | missense | <0.1% | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the GTP-binding domain may impair GTP hydrolysis, reducing activity.
Gain of Function (GOF)
Not well characterized; some variants may increase GTP binding.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • protein transport | • vesicle-mediated transport |
| • intracellular protein transport | • exocytosis |
| • regulation of exocytosis | • synaptic vesicle cycle |
Pathways
• RAB3 trafficking pathway
• Neurotransmitter release cycle
• Vesicle-mediated transport
Protein Summary
RAB3C is a small GTPase of the RAB3 subfamily, essential for regulated exocytosis. It localizes to synaptic vesicles and secretory granules, where it modulates vesicle docking and fusion. The protein contains conserved GTP-binding domains and undergoes post-translational prenylation for membrane attachment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB3C Knockout HEK293 Cell Line | EDJ-KQ7538 | Human | 115827 | Details Get a Quote |
| RAB3C Knockout HeLa Cell Line | EDJ-KQ32827 | Human | 115827 | Details Get a Quote |
| RAB3C Knockout A-549 Cell Line | EDJ-KQ66454 | Human | 115827 | Details Get a Quote |
| RAB3C Knockout HCT 116 Cell Line | EDJ-KQ74876 | Human | 115827 | Details Get a Quote |
