RAB3D
RAB3D, member RAS oncogene family
Gene Information Card
| Symbol | RAB3D |
|---|---|
| Full Name | RAB3D, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 9545 ncbi.nlm.nih.gov/gene/9545 |
| Ensembl ID | ENSG00000105514 |
| UniProt ID | O95716 |
| OMIM ID | 604350 |
| HGNC ID | 9776 |
| Aliases | RAB16, RAB3D, RAB3Dv1 |
Description
RAB3D is a member of the RAS oncogene family of small GTPases. It encodes a protein involved in vesicle trafficking, specifically regulating exocytosis and secretion in various cell types. RAB3D cycles between GTP-bound (active) and GDP-bound (inactive) states, controlling membrane fusion events.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RAB3D overexpression may promote tumor cell invasion and metastasis through altered exocytosis. | PMID: 25636847 |
| Pancreatic cancer | RAB3D upregulation correlates with poor prognosis and enhanced secretory activity. | PMID: 27323851 |
| Gastric cancer | RAB3D expression is associated with tumor progression and lymph node metastasis. | PMID: 28266534 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Breast | 6.7 | Low |
| Stomach | 5.9 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | Moderate expression |
| PANC-1 (pancreatic cancer) | 11.8 | Moderate expression |
| A549 (lung cancer) | 7.5 | Low expression |
| HeLa (cervical cancer) | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact |
| c.482G>A (p.Arg161Gln) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in RAB3D.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RAB3D.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in RAB3D.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • exocytosis |
| • vesicle-mediated transport | • regulation of secretion |
Pathways
• RAB3D regulates exocytosis
• Vesicle trafficking pathway
Protein Summary
RAB3D is a small GTPase of the Rab family that localizes to secretory vesicles and regulates calcium-dependent exocytosis. It is highly expressed in adipose tissue and pancreas, and its dysregulation is implicated in cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB3D Knockout HEK293 Cell Line | EDJ-KQ50878 | Human | 9545 | Details Get a Quote |
| RAB3D Knockout HeLa Cell Line | EDJ-KQ55191 | Human | 9545 | Details Get a Quote |
| RAB3D Knockout A-549 Cell Line | EDJ-KQ63673 | Human | 9545 | Details Get a Quote |
| RAB3D Knockout HCT 116 Cell Line | EDJ-KQ72135 | Human | 9545 | Details Get a Quote |
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