BET1L Gene Summary [Human]
Enables SNAP receptor activity. Involved in regulation of retrograde vesicle-mediated transport, Golgi to ER and retrograde transport, endosome to Golgi. Located in Golgi apparatus and endosome. Implicated in uterine fibroid. Biomarker of endometrial adenocarcinoma. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | BET1L |
| Official Name | Bet1 golgi vesicular membrane trafficking protein like [Source:HGNC Symbol;Acc:HGNC:19348] |
| Ensembl ID | ENSG00000177951 |
| Bio databases IDs | |
| Aliases | Bet1 golgi vesicular membrane trafficking protein like, golgi integral membrane protein 3 |
| Synonyms | 2610021K23Rik, Bet1, Bet1 golgi vesicular membrane trafficking protein-like, BET1L1, Betl1, GOLIM3, GS15, HSPC197 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BET1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SNAP receptor
- transmembrane domain
- protein binding
- SNARE motif
- transporter
Pathways
Biological processes and signaling networks where the BET1L gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- coronary artery disease
- lower urinary tract symptom
- benign prostatic hyperplasia
- cataract
- aortic stenosis
- abdominal aortic aneurysm
- lipoma
- lipomatosis
- uterine leiomyoma
- leiomyomatosis
role in cell
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- endosomes
- Golgi Apparatus
- Golgi membrane
- Golgi stacks
- trans Golgi network
- Golgi cisternae
- medial Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BET1L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane fusion
- protein transport
- regulation of retrograde vesicle-mediated transport, Golgi to ER
- retrograde transport, endosome to Golgi
Cellular Component
Where in the cell the gene product is active
- endosome
- membrane
- cytosol
- SNARE complex
- Golgi apparatus
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- SNAP receptor activity