EXOC1L
Exocyst Complex Component 1 Like
Gene Information Card
| Symbol | EXOC1L |
|---|---|
| Full Name | Exocyst Complex Component 1 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 283849 ncbi.nlm.nih.gov/gene/283849 |
| Ensembl ID | ENSG00000161905 |
| UniProt ID | Q5T8W1 |
| OMIM ID | 615760 |
| HGNC ID | 26259 |
| Aliases | EXOC1L1, FLJ32709 |
Description
EXOC1L (Exocyst Complex Component 1 Like) is a protein-coding gene located on chromosome 16q22.1. It encodes a component of the exocyst complex, which is involved in vesicle trafficking and exocytosis. The gene is expressed in various tissues and may play a role in cellular secretion and membrane dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
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 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • exocytosis | • vesicle docking |
| • protein transport | • cytoplasm |
| • exocyst complex |
Pathways
• Vesicle-mediated transport
• Exocyst pathway
Protein Summary
The EXOC1L protein is a component of the exocyst complex, which is involved in tethering vesicles to the plasma membrane before fusion. It is predicted to localize to the cytoplasm and may interact with other exocyst subunits to regulate polarized secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOC1L Knockout HEK293 Cell Line | EDJ-KQ12571 | Human | 644145 | Details Get a Quote |
