ENTR1 Gene - Endosome Associated Trafficking Regulator 1
Comprehensive guide to ENTR1 (endosome associated trafficking regulator 1), including gene function, expression, mutations, and related diseases.
Gene Information Card
| Symbol | ENTR1 |
|---|---|
| Full Name | endosome associated trafficking regulator 1 |
| Gene Type | gene with protein product |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 10807 ncbi.nlm.nih.gov/gene/10807 |
| Ensembl ID | ENSG00000165689 |
| UniProt ID | Q96C92 |
| OMIM ID | 618289 |
| HGNC ID | HGNC:10667 |
| Aliases | NY-CO-3, SDCCAG3 |
Description
ENTR1 (endosome associated trafficking regulator 1) is a protein-coding gene located on chromosome 9q34.3. It encodes a protein involved in endosomal trafficking and vesicle-mediated transport. ENTR1 has been implicated in various cellular processes, including receptor recycling and signal transduction. Mutations or dysregulation of ENTR1 may contribute to certain diseases, although its full clinical significance is still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression may affect tumor progression | Limited evidence from cancer studies |
| Immunodeficiency | Potential role in immune cell function | Inferred from protein interactions |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | Not available | Moderate expression |
| Testis | Not available | High expression |
| Kidney | Not available | Moderate expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Detected |
| HEK293 | Not available | Detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G | Missense | Rare | Unknown functional effect |
| c.456C>T | Synonymous | Rare | No known effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; may impair endosomal trafficking.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • endosome | • protein transport |
| • vesicle-mediated transport |
Pathways
• Endosomal trafficking
• Vesicle-mediated transport
Protein Summary
The ENTR1 protein is a regulator of endosome-associated trafficking. It is involved in the sorting and recycling of endosomal cargo, potentially influencing cell surface receptor levels and signaling. The protein contains domains that mediate interactions with other trafficking components. Its precise molecular functions and cellular roles are still being characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENTR1 Knockout HEK293 Cell Line | EDJ-KQ7177 | Human | 10807 | Details Get a Quote |
| ENTR1 Knockout A-549 Cell Line | EDJ-KQ32104 | Human | 10807 | Details Get a Quote |
| ENTR1 Knockout HCT 116 Cell Line | EDJ-KQ32105 | Human | 10807 | Details Get a Quote |
| ENTR1 Knockout HeLa Cell Line | EDJ-KQ32106 | Human | 10807 | Details Get a Quote |
