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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ESYT1
extended synaptotagmin 1
Chromosome 12 · 12q13.2
NCBI Gene: 23344Ensembl: ENSG00000139641.14HGNC: HGNC:29534UniProt: Q9BSJ8
163PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intermembrane lipid transferendoplasmic reticulum membraneendoplasmic reticulummembraneneurodegenerative diseasediabetes mellitusglioblastoma multiformebreast cancer
✦AI Summary

ESYT1 (Extended Synaptotagmin 1) is a calcium-sensing protein that functions as a molecular tether between intracellular membranes and the plasma membrane. Upon calcium elevation, ESYT1 translocates to endoplasmic reticulum (ER)-plasma membrane (ER-PM) contact sites via its C2 calcium-binding domains, facilitating membrane tethering and contact site formation 12. ESYT1 also localizes to mitochondria-ER contact sites (MERCs) where it forms complexes with SYNJ2BP to regulate mitochondrial calcium and lipid homeostasis 3. Mechanistically, ESYT1 mediates non-vesicular lipid transfer through its SMP domain, including fatty acid mobilization from lipid droplets for mitochondrial β-oxidation 4 and HDL-derived cholesterol redistribution to intracellular compartments 5. ESYT1 acts as a signaling suppressor of the ADGRD1 G-protein-coupled receptor in the absence of cytosolic calcium, with calcium-induced dissociation relieving this inhibition 6. Disease relevance includes roles in glioblastoma progression, sarcopenic obesity pathogenesis through mitochondrial dysfunction, hepatocellular carcinoma progression via macrophage phagocytosis regulation, and ALS motor neuron connectivity 6789. ESYT1 is also implicated in osteoarthritis lipid metabolism 10. These findings position ESYT1 as a critical regulator of membrane contact site dynamics with therapeutic potential across metabolic and neurodegenerative diseases.

Sources cited
1
ESYT1 binds calcium via C2 domains and translocates to ER-membrane contact sites
PMID: 23791178
2
ESYT1 tethers ER to plasma membrane and promotes apposition formation in response to calcium
PMID: 24183667
3
ESYT1 inhibits ADGRD1 signaling absent cytosolic calcium; calcium relieves this inhibition
PMID: 38758649
4
ESYT1 forms complex at lipid droplet-mitochondria-ER contact sites mediating fatty acid transfer for β-oxidation
PMID: 40032835
5
ESYT1 tethers ER to mitochondria at MERCs and regulates mitochondrial calcium and lipid homeostasis
PMID: 37931956
6
ESYT1 facilitates HDL-derived cholesterol transport via S1P-mediated ER-PM contact site activation
PMID: 40437229
7
ESYT1 identified as regulator of lipid metabolism in osteoarthritis
PMID: 40001553
8
ESYT1 overexpression impairs mitochondrial function and myoblast differentiation; inhibition improves sarcopenic obesity
PMID: 39675068
9
ESYT1 promotes macrophage phagocytosis and is negatively regulated by NLRP6 in hepatocellular carcinoma
PMID: 40473401
10
ESYT1 overexpression stabilizes V1 interneuron synapses and ameliorates motor phenotype in ALS model
PMID: 38849367
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
diabetes mellitusOpen Targets
0.21Weak
glioblastoma multiformeOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.07Suggestive
liver cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.06Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.06Suggestive
Hypomaturation amelogenesis imperfectaOpen Targets
0.06Suggestive
Hypoplastic amelogenesis imperfectaOpen Targets
0.06Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.05Suggestive
corneal-cerebellar syndromeOpen Targets
0.05Suggestive
Peters anomalyOpen Targets
0.05Suggestive
granular corneal dystrophy type IOpen Targets
0.05Suggestive
oculodental syndrome, Rutherfurd typeOpen Targets
0.05Suggestive
otodental syndromeOpen Targets
0.05Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.05Suggestive
X-linked corneal dermoidOpen Targets
0.05Suggestive
amelogenesis imperfectaOpen Targets
0.05Suggestive
autosomal dominant keratitisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STIM1Protein interaction80%ESYT2Protein interaction79%DERL2Protein interaction78%CCDC112Protein interaction77%ESYT3Protein interaction76%OSBPProtein interaction56%
Tissue Expression6 tissues
Lung
100%
Liver
92%
Ovary
90%
Brain
66%
Heart
60%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
ESYT1STIM1ESYT2DERL2CCDC112ESYT3OSBP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BSJ8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.62–0.84]
RankingsWhere ESYT1 stands among ~20K protein-coding genes
  • #2,751of 20,598
    Most Researched163 · top quartile
  • #7,208of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedESYT1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Proximity proteomics reveals a mechanism of fatty acid transfer at lipid droplet-mitochondria- endoplasmic reticulum contact sites.
PMID: 40032835
Nat Commun · 2025
1.00
2
Modulation of GPR133 (ADGRD1) signaling by its intracellular interaction partner extended synaptotagmin 1.
PMID: 38758649
Cell Rep · 2024
0.90
3
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis.
PMID: 37931956
Life Sci Alliance · 2024
0.80
4
Sphingosine-1-phosphate signalling activates E-Syt1 to facilitate HDL-derived cholesterol transport.
PMID: 40437229
Nat Cell Biol · 2025
0.70
5
Phospholipids and Sphingolipids in Osteoarthritis.
PMID: 40001553
Biomolecules · 2025
0.60