EXOC3L1 Gene - Exocyst Complex Component 3 Like 1
Comprehensive genomic and functional annotation of EXOC3L1
Gene Information Card
| Symbol | EXOC3L1 |
|---|---|
| Full Name | Exocyst complex component 3 like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 283849 ncbi.nlm.nih.gov/gene/283849 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q86VI1 |
| OMIM ID | 615273 |
| HGNC ID | 24617 |
| Aliases | FLJ32130, MGC138499, MGC138500 |
Description
EXOC3L1 (Exocyst complex component 3 like 1) is a protein-coding gene. The encoded protein is a component of the exocyst complex, which is involved in the targeting and tethering of post-Golgi vesicles to the plasma membrane prior to exocytosis. EXOC3L1 is thought to play a role in vesicle trafficking and cell polarity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in OMIM or ClinVar as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional impact |
| c.457G>A (p.Val153Ile) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • exocyst (GO:0000145) | • exocytosis (GO:0006887) |
| • vesicle-mediated transport (GO:0016192) | • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• Exocyst pathway (Reactome: R-HSA-5620912)
Protein Summary
EXOC3L1 encodes a 743-amino acid protein (UniProt Q86VI1) that is a component of the exocyst complex. The exocyst complex is an octameric protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. EXOC3L1 is expressed in multiple tissues, with highest levels in testis. Its precise cellular function remains under investigation, but it is likely involved in polarized exocytosis and cell surface remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOC3L1 Knockout HEK293 Cell Line | EDJ-KQ13345 | Human | 283849 | 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 |
| EXOC3L1 Knockout HCT 116 Cell Line | EDJ-KQ76264 | Human | 283849 | Details Get a Quote |
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