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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EXOC1
exocyst complex component 1
Chromosome 4 · 4q12
NCBI Gene: 55763Ensembl: ENSG00000090989.19HGNC: HGNC:30380UniProt: Q9NV70
79PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranecytoplasmcytosolmembraneneurodegenerative diseasedengue diseasesialolithiasishyperaldosteronism
✦AI Summary

EXOC1 (exocyst complex component 1) is a core component of the octameric exocyst complex, a conserved protein machinery essential for vesicular tethering and secretion 1. Its primary function involves facilitating intracellular trafficking of cargo proteins to the plasma membrane and extracellular space. Mechanistically, EXOC1 operates through multiple pathways. In germ cells, it regulates pseudopod formation by inactivating the Rac1 GTPase and cooperates with SNARE proteins (STX2, SNAP23) for syncytia formation 2. EXOC1 also interacts with DISC1 at the endoplasmic reticulum to modulate IP3R1-mediated calcium signaling 3. Additionally, EXOC1 contributes to antiviral defense against flaviviruses by sequestering elongation factor 1-alpha (EEF1A1), reducing viral RNA synthesis and protein translation. Clinically, EXOC1 dysfunction causes severe reproductive pathology. EXOC1 depletion in oocytes impairs trafficking of c-KIT and GDF9, critical oocyte-granulosa cell signaling factors, resulting in complete female infertility through defective oocyte re-awakening and follicle growth 4. Similarly, male germ cell-specific EXOC1 deletion causes severe spermatogenesis defects 5. Additionally, EXOC1 upregulation associates with early-stage pancreatic cancer progression and metastatic potential 6, and EXOC1 variants correlate with albuminuria risk in Asian populations 7.

Sources cited
1
EXOC1 depletion in oocytes disrupts c-KIT and GDF9 subcellular localization, impairing oocyte re-awakening, cyst breakdown, and granulosa cell proliferation, causing female infertility
PMID: 39833146
2
EXOC1 regulates spermatogonia pseudopod formation by inactivating Rac1 and functions in spermatocyte syncytia formation with SNARE proteins STX2 and SNAP23
PMID: 33973520
3
EXOC1 is essential for spermatogenesis; male germ cell-specific Exoc1 deletion causes severe spermatogenesis defects with spermatocyte aggregation
PMID: 38325858
4
EXOC1 is expressed in human placental syncytiotrophoblast and localizes at the apical membrane, the major site of placental secretion
PMID: 24856041
5
EXOC1 interacts with DISC1 at the endoplasmic reticulum and affects recruitment to IP3R1, modulating ER calcium dynamics relevant to schizophrenia pathogenesis
PMID: 25732993
6
EXOC1 is upregulated in early-stage pancreatic cancer and associates with metastatic potential
PMID: 39417182
7
EXOC1 genetic variants associate with urinary albumin excretion in Japanese populations
PMID: 32277301
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
dengue diseaseOpen Targets
0.37Weak
sialolithiasisOpen Targets
0.27Weak
adrenal gland hyperfunctionOpen Targets
0.24Weak
hyperaldosteronismOpen Targets
0.24Weak
cervical carcinomaOpen Targets
0.24Weak
contractureOpen Targets
0.07Suggestive
major depressive disorderOpen Targets
0.06Suggestive
myocardial infarctionOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
coronary artery diseaseOpen Targets
0.03Suggestive
cystOpen Targets
0.03Suggestive
albuminuriaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
female infertilityOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FUT2Protein interaction100%RAB13Protein interaction100%VPS52Protein interaction100%STXBP3Protein interaction100%TNFAIP2Protein interaction100%RAB11AProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
90%
Lung
83%
Ovary
80%
Brain
72%
Liver
48%
Gene Interaction Network
Click a node to explore
EXOC1FUT2RAB13VPS52STXBP3TNFAIP2RAB11A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NV70
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.43–0.69]
RankingsWhere EXOC1 stands among ~20K protein-coding genes
  • #5,990of 20,598
    Most Researched79
  • #5,147of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedEXOC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exocyst complex component 1 (Exoc1) loss in dormant oocyte disrupts c-KIT and growth differentiation factor (GDF9) subcellular localization and causes female infertility in mice.
PMID: 39833146
Cell Death Discov · 2025
1.00
2
EXOC1 plays an integral role in spermatogonia pseudopod elongation and spermatocyte stable syncytium formation in mice.
PMID: 33973520
Elife · 2021
0.90
3
Deletion of Exoc7, but not Exoc3, in male germ cells causes severe spermatogenesis failure with spermatocyte aggregation in mice.
PMID: 38325858
Exp Anim · 2024
0.80
4
Uncovering the role of FXYD3 as a potential oncogene and early biomarker in pancreatic cancer.
PMID: 39417182
Am J Cancer Res · 2024
0.70
5
Disrupted-in-schizophrenia-1 (DISC1) Regulates Endoplasmic Reticulum Calcium Dynamics.
PMID: 25732993
Sci Rep · 2015
0.60