ESYT3: Extended Synaptotagmin 3
A lipid transfer protein involved in endoplasmic reticulum-plasma membrane contact sites
Gene Information Card
| Symbol | ESYT3 |
|---|---|
| Full Name | Extended Synaptotagmin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 23286 ncbi.nlm.nih.gov/gene/23286 |
| Ensembl ID | ENSG00000163644 |
| UniProt ID | Q9H1C7 |
| OMIM ID | 609972 |
| HGNC ID | 24789 |
| Aliases | E-Syt3, FAM62C, MBC1 |
Description
ESYT3 encodes extended synaptotagmin 3, a member of the extended synaptotagmin family. The protein localizes to endoplasmic reticulum-plasma membrane (ER-PM) contact sites and mediates lipid transfer between membranes. It contains an N-terminal transmembrane domain, a central synaptotagmin-like mitochondrial lipid-binding (SMP) domain, and multiple C2 domains. ESYT3 is involved in calcium-dependent lipid transport and may regulate phosphoinositide metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No curated entries in OMIM or ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 10.2 | Medium |
| Brain | 8.5 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.2 | Low expression |
| A549 | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact |
| c.1543G>A (p.Gly515Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005544 - calcium-dependent phospholipid binding | • GO:0005783 - endoplasmic reticulum |
| • GO:0005789 - endoplasmic reticulum membrane | • GO:0006869 - lipid transport |
| • GO:0016020 - membrane | • GO:0035091 - phosphatidylinositol binding |
| • GO:0042802 - identical protein binding | • GO:0046872 - metal ion binding |
Pathways
• Phospholipid transport at ER-PM contact sites
• Calcium-dependent lipid transfer
Protein Summary
Extended synaptotagmin 3 (E-Syt3) is a 932-amino acid protein with a molecular weight of approximately 106 kDa. It contains an N-terminal transmembrane domain that anchors it to the ER membrane, a central SMP domain that forms a lipid-binding tunnel, and three C2 domains (C2A, C2B, C2C) that mediate calcium-dependent interactions with the plasma membrane. E-Syt3 functions as a lipid transfer protein at ER-PM contact sites, facilitating the exchange of phospholipids such as phosphatidylinositol and phosphatidylserine. Its activity is regulated by calcium ions and may influence cell signaling and membrane dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESYT3 Knockout HEK293 Cell Line | EDC07620 | Human | 83850 | Details Get a Quote |
| ESYT3 Knockout HeLa Cell Line | EDJ-KQ36795 | Human | 83850 | Details Get a Quote |
| ESYT3 Knockout A-549 Cell Line | EDJ-KQ65985 | Human | 83850 | Details Get a Quote |
| ESYT3 Knockout HCT 116 Cell Line | EDJ-KQ74408 | Human | 83850 | Details Get a Quote |
| ESYT2 and ESYT3 Knockout HEK293 Cell Line | EDC07627 | Human | 57488 and 83850 | Details Get a Quote |
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