RAB3A
Member of the RAS oncogene family, involved in exocytosis and neurotransmitter release
Gene Information Card
| Symbol | RAB3A |
|---|---|
| Full Name | RAB3A, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 5864 ncbi.nlm.nih.gov/gene/5864 |
| Ensembl ID | ENSG00000105649 |
| UniProt ID | P20336 |
| OMIM ID | 179490 |
| HGNC ID | 9777 |
| Aliases | RAB3, RAB3A, member RAS oncogene family |
Description
RAB3A is a small GTPase belonging to the RAS oncogene family. It plays a critical role in regulated exocytosis, particularly in neurotransmitter release at synapses. RAB3A cycles between GTP-bound (active) and GDP-bound (inactive) states, controlling vesicle docking and fusion. It is highly expressed in brain and neuroendocrine tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered RAB3A expression may affect vesicle trafficking and tumor progression; overexpression observed in some subtypes | COSMIC, PubMed studies |
| Lung cancer | RAB3A mutations and expression changes linked to tumor growth and metastasis | COSMIC, ClinVar |
| Neurodegenerative disorders | Impaired RAB3A function disrupts synaptic vesicle exocytosis, potentially contributing to disease | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 34.5 | High |
| Adrenal gland | 12.3 | Medium |
| Pancreas | 8.7 | Medium |
| Testis | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 28.1 | High expression |
| HeLa (cervical) | 5.4 | Moderate |
| A549 (lung) | 3.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.83A>G (p.Gln28Arg) | Missense | <0.1% | Altered GTP binding |
| c.215C>T (p.Thr72Met) | Missense | <0.1% | Reduced GTPase activity |
| c.364G>A (p.Glu122Lys) | Missense | <0.1% | Impaired vesicle trafficking |
Mutation functional classification
Loss of Function (LOF)
Mutations reducing GTP binding or GTPase activity impair exocytosis and neurotransmitter release.
Gain of Function (GOF)
Not well documented; potential activating mutations may enhance vesicle fusion.
Dominant Negative (DN)
Some missense mutations (e.g., p.Gln28Arg) may interfere with wild-type RAB3A function.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • protein transport | • exocytosis |
| • synaptic vesicle exocytosis | • intracellular protein transport |
Pathways
• RAB3A-mediated exocytosis
• Synaptic vesicle cycle
• RAS signaling pathway
Protein Summary
RAB3A is a 25 kDa GTPase that localizes to synaptic vesicles and secretory granules. It regulates calcium-dependent exocytosis by interacting with effectors such as RIM1 and synaptotagmin. Its activity is essential for neurotransmitter release and hormone secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB3A Knockout HEK293 Cell Line | EDJ-KQ5621 | Human | 5864 | Details Get a Quote |
| RAB3A Knockout A-549 Cell Line | EDJ-KQ28928 | Human | 5864 | Details Get a Quote |
| RAB3A Knockout HeLa Cell Line | EDJ-KQ28930 | Human | 5864 | Details Get a Quote |
| RAB3A Knockout HCT 116 Cell Line | EDJ-KQ27665 | Human | 5864 | Details Get a Quote |
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