EXOC5 Gene - Exocyst Complex Component 5
Essential subunit of the exocyst complex involved in vesicle trafficking and cell polarity
Gene Information Card
| Symbol | EXOC5 |
|---|---|
| Full Name | Exocyst Complex Component 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.3 |
| NCBI Gene ID | 10640 ncbi.nlm.nih.gov/gene/10640 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | O00471 |
| OMIM ID | 604469 |
| HGNC ID | 3508 |
| Aliases | SEC10, SEC10L1, SEC10P, HsSec10p |
Description
EXOC5 encodes a component of the exocyst complex, a multi-protein complex essential for targeting and docking of secretory vesicles to the plasma membrane. The exocyst complex is involved in exocytosis, cell polarity, ciliogenesis, and cell migration. EXOC5 directly interacts with other exocyst subunits and is critical for vesicle tethering.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Defective ciliary transport due to EXOC5 mutations disrupts photoreceptor outer segment renewal | ClinVar, OMIM |
| Nephronophthisis | Impaired exocyst function leads to ciliary defects in renal epithelial cells | ClinVar, OMIM |
| Cancer (various) | Altered exocyst-mediated vesicle trafficking contributes to invasive cell migration and metastasis | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Kidney | 18.2 | Medium |
| Brain | 15.7 | Medium |
| Lung | 12.3 | Medium |
| Liver | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.1 | Embryonic kidney cells |
| HeLa | 19.8 | Cervical cancer cells |
| A549 | 16.4 | Lung carcinoma cells |
| MCF7 | 14.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function |
| c.347G>A (p.Arg116Gln) | Missense | Rare | Unknown |
| c.502_503del (p.Leu168fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in EXOC5 lead to truncated or absent protein, impairing exocyst complex assembly and vesicle trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported in EXOC5.
Dominant Negative (DN)
Missense mutations may disrupt exocyst complex interactions, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • exocyst (GO:0000145) | • exocytosis (GO:0006887) |
| • protein transport (GO:0015031) | • cell projection organization (GO:0030030) |
| • cilium assembly (GO:0060271) |
Pathways
• Exocyst complex pathway (Reactome: R-HSA-5620912)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Cilium assembly (Reactome: R-HSA-5620920)
Protein Summary
EXOC5 (Sec10) is a 70 kDa protein that forms part of the exocyst complex, an octameric complex (Sec3, Sec5, Sec6, Sec8, Sec10, Sec15, Exo70, Exo84). It localizes to the plasma membrane and ciliary base, mediating tethering of post-Golgi vesicles. EXOC5 is essential for ciliogenesis and cell polarity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOC5 Knockout HEK293 Cell Line | EDJ-KQ50997 | Human | 10640 | Details Get a Quote |
| EXOC5 Knockout HeLa Cell Line | EDJ-KQ55451 | Human | 10640 | Details Get a Quote |
| EXOC5 Knockout A-549 Cell Line | EDJ-KQ63933 | Human | 10640 | Details Get a Quote |
| EXOC5 Knockout HCT 116 Cell Line | EDJ-KQ72390 | Human | 10640 | Details Get a Quote |
