EXOC3: Exocyst Complex Component 3
A key subunit of the exocyst complex involved in vesicle tethering and exocytosis
Gene Information Card
| Symbol | EXOC3 |
|---|---|
| Full Name | Exocyst complex component 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p15.33 |
| NCBI Gene ID | 11336 ncbi.nlm.nih.gov/gene/11336 |
| Ensembl ID | ENSG00000113161 |
| UniProt ID | O60645 |
| OMIM ID | 608186 |
| HGNC ID | 3514 |
| Aliases | Sec6, SEC6, SEC6L1, exocyst complex component 3 |
Description
EXOC3 (exocyst complex component 3) encodes a protein that is a core component of the exocyst complex, an octameric complex involved in tethering vesicles to the plasma membrane prior to fusion. The exocyst complex is essential for polarized exocytosis, cell growth, and cell migration. EXOC3 interacts with other exocyst subunits and small GTPases to regulate vesicle docking and secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations in EXOC3 disrupt exocyst function, impairing vesicle trafficking and neuronal development | ClinVar; PMID: 31036916 |
| Cancer (various) | Altered EXOC3 expression may affect cell polarity and migration, contributing to tumor progression | COSMIC; PMID: 25944712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| HEK 293 | 11.8 | Embryonic kidney cells |
| A549 | 9.5 | Lung cancer cell line |
| K562 | 7.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Potential structural disruption |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in EXOC3 lead to truncated or absent protein, impairing exocyst complex assembly and vesicle trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported for EXOC3.
Dominant Negative (DN)
Missense mutations may produce a defective protein that interferes with exocyst complex function in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Exocyst complex pathway (Reactome: R-HSA-5620912)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Membrane trafficking (KEGG: hsa04144)
Protein Summary
EXOC3 (Sec6) is a 745-amino acid protein that forms part of the exocyst complex, which mediates tethering of post-Golgi vesicles to the plasma membrane. It contains a Sec6 domain and interacts with other exocyst subunits (EXOC1, EXOC2, EXOC4, etc.) and small GTPases such as RalA and RalB. The protein is essential for polarized secretion, cell polarity, and ciliogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOC3L2 Knockout HEK293 Cell Line | EDJ-KQ9881 | Human | 90332 | Details Get a Quote |
| EXOC3L4 Knockout HEK293 Cell Line | EDJ-KQ10795 | Human | 91828 | Details Get a Quote |
| EXOC3L1 Knockout HEK293 Cell Line | EDJ-KQ13345 | Human | 283849 | Details Get a Quote |
| EXOC3L2 Knockout A-549 Cell Line | EDJ-KQ38060 | Human | 90332 | Details Get a Quote |
| EXOC3L2 Knockout HCT 116 Cell Line | EDJ-KQ38061 | Human | 90332 | Details Get a Quote |
| EXOC3L2 Knockout HeLa Cell Line | EDJ-KQ38062 | Human | 90332 | Details Get a Quote |
| EXOC3L4 Knockout A-549 Cell Line | EDJ-KQ38436 | Human | 91828 | Details Get a Quote |
| EXOC3L4 Knockout HeLa Cell Line | EDJ-KQ38437 | Human | 91828 | Details Get a Quote |
| EXOC3L1 Knockout HeLa Cell Line | EDJ-KQ59415 | Human | 283849 | Details Get a Quote |
| EXOC3L1 Knockout A-549 Cell Line | EDJ-KQ67883 | Human | 283849 | Details Get a Quote |
| EXOC3L4 Knockout HCT 116 Cell Line | EDJ-KQ74733 | Human | 91828 | Details Get a Quote |
| EXOC3L1 Knockout HCT 116 Cell Line | EDJ-KQ76264 | Human | 283849 | Details Get a Quote |
