ESYT1 Gene: Extended Synaptotagmin-1 – Structure, Function, and Clinical Relevance
A comprehensive biomedical overview of ESYT1, including genomic context, protein function, expression patterns, and disease associations.
Gene Information Card
| Symbol | ESYT1 |
|---|---|
| Full Name | Extended synaptotagmin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 23344 ncbi.nlm.nih.gov/gene/23344 |
| Ensembl ID | ENSG00000139648 |
| UniProt ID | Q9BSJ8 |
| OMIM ID | 616504 |
| HGNC ID | 22233 |
| Aliases | E-Syt1, FAM62A, MBC2 |
Description
ESYT1 encodes extended synaptotagmin-1, a membrane protein that localizes to endoplasmic reticulum-plasma membrane contact sites. It contains an N-terminal transmembrane domain, a synaptotagmin-like mitochondrial-lipid-binding protein (SMP) domain, and multiple C2 domains. ESYT1 mediates lipid transfer between the ER and plasma membrane, particularly phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent tethering, and is involved in calcium-dependent lipid exchange and cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect cell signaling and lipid metabolism; not a classic oncogene. | COSMIC shows mutations in some cancer samples; limited functional evidence. |
| Neurodevelopmental disorders | Potential role in synaptic function; rare variants reported in patients, but causality not established. | ClinVar lists few variants of uncertain significance; no OMIM disease association. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.4 | Medium |
| Lung | 8.9 | Low |
| Liver | 6.2 | Low |
| Kidney | 7.5 | Low |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical carcinoma; moderate expression |
| A549 | 8.1 | Lung carcinoma; low-moderate |
| HepG2 | 6.5 | Liver carcinoma; low |
| SH-SY5Y | 14.7 | Neuroblastoma; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.2345C>T (p.Pro782Leu) | Missense | 0.005% | Uncertain significance; may affect C2 domain |
| c.3456del (p.Gln1152HisfsTer3) | Frameshift | Rare | Likely loss of function; not disease-associated |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants are rare and not clearly pathogenic; may impair lipid transfer but no known disease phenotype.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lipid binding | • phospholipid binding |
| • calcium ion binding | • endoplasmic reticulum membrane |
| • plasma membrane | • membrane contact site |
| • lipid transport | • vesicle-mediated transport |
Pathways
• Phospholipid metabolism
• Endoplasmic reticulum-plasma membrane contact site organization
• Calcium-dependent lipid transport
Protein Summary
Extended synaptotagmin-1 (E-Syt1) is a 1104-amino-acid protein with a transmembrane helix anchoring it to the ER membrane. Its SMP domain forms a barrel-like structure that transfers lipids between membranes. The C2 domains (C2A, C2B, C2C) bind calcium and phospholipids, facilitating ER-PM tethering. E-Syt1 is highly expressed in brain and testis, and plays roles in calcium-dependent lipid exchange, cell signaling, and neurite outgrowth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESYT1 Knockout HEK293 Cell Line | EDJ-KQ7983 | Human | 23344 | Details Get a Quote |
| ESYT1 Knockout A-549 Cell Line | EDJ-KQ32361 | Human | 23344 | Details Get a Quote |
| ESYT1 Knockout HCT 116 Cell Line | EDJ-KQ33697 | Human | 23344 | Details Get a Quote |
| ESYT1 Knockout HeLa Cell Line | EDJ-KQ33698 | Human | 23344 | Details Get a Quote |
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