ESYT1 Gene Summary [Human]
Enables identical protein binding activity. Predicted to be involved in endoplasmic reticulum-plasma membrane tethering and lipid transport. Located in endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ESYT1 |
| Official Name | extended synaptotagmin 1 [Source:HGNC Symbol;Acc:HGNC:29534] |
| Ensembl ID | ENSG00000139641 |
| Bio databases IDs | |
| Aliases | extended synaptotagmin 1 |
| Synonyms | extended synaptotagmin 1, extended synaptotagmin-like protein 1, FAM62A, KIAA0747, MBC2, vp115 |
| 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 ESYT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- phospholipid transporter
- Synaptotagmin-like mitochondrial-lipid-binding domain
- protein binding
- synaptotagmin-like mitochondrial-lipid-binding protein (SMP) domain superfamily
- Protein kinase C conserved region 2 (CalB)
- identical protein binding
- transporter
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- sepsis
- chronic periodontal disease
role in cell
- production in
- accumulation in
- phosphorylation in
- cytotoxicity
- degranulation
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
- endoplasmic reticulum mitochondria contact site
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ESYT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phospholipid transport
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- endoplasmic reticulum
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylethanolamine binding
- identical protein binding
- protein binding
- calcium ion binding
- phosphatidylinositol binding
- phosphatidylcholine binding
- calcium-dependent phospholipid binding