EXOC1: Exocyst Complex Component 1
A key subunit of the exocyst complex involved in vesicle tethering and exocytosis
Gene Information Card
| Symbol | EXOC1 |
|---|---|
| Full Name | Exocyst complex component 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 55763 ncbi.nlm.nih.gov/gene/55763 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q9NV70 |
| OMIM ID | 608927 |
| HGNC ID | 30385 |
| Aliases | SEC3, SEC3L1, SEC3L2, BM-102 |
Description
EXOC1 (exocyst complex component 1) encodes a protein that is a subunit of the exocyst complex, an evolutionarily conserved octameric complex involved in the tethering of secretory vesicles to the plasma membrane prior to fusion. EXOC1 is the mammalian ortholog of yeast Sec3p and plays a critical role in exocytosis, cell polarity, and membrane trafficking. The gene is located on chromosome 4q12 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered exocyst function may disrupt cell polarity and vesicle trafficking, contributing to tumorigenesis | COSMIC; literature |
| Developmental disorders | Mutations in exocyst components can impair cellular signaling and morphogenesis | OMIM; literature |
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 |
| Pancreas | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| A549 | 8.8 | Lung cancer cell line |
| MCF7 | 7.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | Unknown functional impact |
| c.567_569del | In-frame deletion | <0.1% | Potential loss of function |
| c.890G>A | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EXOC1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for EXOC1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Exocyst pathway
• Vesicle-mediated transport
• Insulin secretion
Protein Summary
EXOC1 is a 894-amino acid protein (UniProt Q9NV70) that localizes to the plasma membrane and is a core component of the exocyst complex. It interacts with other exocyst subunits (EXOC2-EXOC8) and small GTPases such as RALA and RALB to mediate vesicle tethering. The protein contains a pleckstrin homology (PH) domain that may bind phosphoinositides, contributing to membrane targeting.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOC1L Knockout HEK293 Cell Line | EDJ-KQ12571 | Human | 644145 | Details Get a Quote |
