BET1L Gene
BET1 Like Golgi Vesicular Transport Protein
Gene Information Card
| Symbol | BET1L |
|---|---|
| Full Name | BET1 Like Golgi Vesicular Transport Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.1 |
| NCBI Gene ID | 51272 ncbi.nlm.nih.gov/gene/51272 |
| Ensembl ID | ENSG00000177989 |
| UniProt ID | Q9NYM9 |
| OMIM ID | 618852 |
| HGNC ID | 28896 |
| Aliases | BET1L, hBET1L, GS15, GOS15 |
Description
BET1L (BET1 Like) encodes a Golgi vesicular transport protein that is a member of the BET1 family. It functions as a SNARE protein involved in the docking and fusion of vesicles with the Golgi apparatus, specifically mediating transport from the endoplasmic reticulum to the Golgi. The protein is localized to the Golgi membrane and is essential for maintaining Golgi structure and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IIn | Impaired Golgi trafficking due to BET1L deficiency | PMID: 31564436 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Disrupted vesicular transport affecting neuronal development | PMID: 31564436 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression |
| HeLa | 7.8 | Moderate expression |
| K562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.208C>T (p.Arg70Trp) | Missense | Rare | Impaired SNARE interaction |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in BET1L disrupt Golgi trafficking, leading to congenital disorders of glycosylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Dominant-negative effects have not been described for BET1L.
View complete mutation data：
Gene Ontology (GO)
| • Golgi membrane | • SNARE binding |
| • vesicle docking | • intracellular protein transport |
| • endoplasmic reticulum to Golgi vesicle-mediated transport |
Pathways
• ER to Golgi vesicle-mediated transport
• SNARE interactions in vesicular transport
Protein Summary
BET1L is a 15 kDa Golgi SNARE protein (also known as GS15) that forms a complex with syntaxin-5, GOSR1, and GOSR2 to mediate vesicle fusion at the Golgi. It is essential for retrograde transport from the Golgi to the ER and for maintaining Golgi morphology. Mutations in BET1L cause a rare autosomal recessive disorder characterized by defective glycosylation and neurological impairment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BET1L Knockout HEK293 Cell Line | EDJ-KQ11005 | Human | 51272 | Details Get a Quote |
| BET1L Knockout A-549 Cell Line | EDJ-KQ38870 | Human | 51272 | Details Get a Quote |
| BET1L Knockout HCT 116 Cell Line | EDJ-KQ38871 | Human | 51272 | Details Get a Quote |
| BET1L Knockout HeLa Cell Line | EDJ-KQ38872 | Human | 51272 | Details Get a Quote |
