Details for: EXOC3L1

Gene ID: 283849

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: EXOC3L1

Ensembl ID: ENSG00000179044

Description: exocyst complex component 3 like 1

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • blood vessel endothelial cell CL0000071
    CSI 3.93
    rCSI 8.15%
    PRS 98.61
  • pulmonary artery endothelial cell CL1001568
    CSI 2.79
    rCSI 3.8%
    PRS 99.49
  • lung microvascular endothelial cell CL2000016
    CSI 0.39
    rCSI 7.45%
    PRS 99.31

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary Analyzed for its expression specificity (CSI Z-SCORE), [EXOC3L1](/details-gene/283849) is a protein-coding gene whose expression appears highly restricted to endothelial cell lineages. As a putative member of the exocyst complex, it is implicated in tethering vesicles to the plasma membrane during exocytosis. While its expression pattern shows high exclusivity to endothelial cells, the statistical significance of this specificity is low in the provided dataset, suggesting it may play a specialized or low-abundance role in these cells rather than serving as a robust, defining marker. ## Cellular Roles and Expression Landscape The expression profile of [EXOC3L1](/details-gene/283849) points towards a specialized function within the vascular endothelium. An analysis of its expression specificity across the **Overall** tissue landscape reveals its transcript is almost exclusively detected in endothelial cell types. This is highlighted by its exceptional percentile rank (PRS > 98%) and a maximal effect size (deltaVal: 1.00) in [blood vessel endothelial cell](/details-cell/CL0000071), [pulmonary artery endothelial cell](/details-cell/CL1001568), and [lung microvascular endothelial cell](/details-cell/CL2000016). However, a cautious interpretation is warranted. The CSI (Z-SCORE) for these top-ranked cells is 0.00, with corresponding non-significant p-values (p > 0.65). This apparent contradiction suggests that while [EXOC3L1](/details-gene/283849) expression is highly restricted to these cells, its expression level may be too low or variable to be classified as a statistically significant specificity marker in this context. This pattern is often observed for genes with highly specialized functions that are not abundantly transcribed under basal conditions. Its identification in foundational cDNA sequencing projects provided the initial evidence of its existence and transcription ([PubMed: 14702039](https://pubmed.ncbi.nlm.nih.gov/14702039/), [PubMed: 12693554](https://pubmed.ncbi.nlm.nih.gov/12693554/)). ## Pathways and Molecular Function The functional annotations for [EXOC3L1](/details-gene/283849) are highly consistent with a role in the secretory functions of endothelial cells. The gene is associated with the [Exocyst](/details-go/GO:0000145) complex, a key molecular machine that mediates the final tethering step of secretory vesicles to the plasma membrane prior to fusion. This function is central to biological processes like [Exocytosis](/details-go/GO:0006887) and is particularly relevant for the regulated release of substances from [secretory granules](/details-go/GO:0030141). In the context of endothelial cells, this machinery is critical for various functions, including the secretion of von Willebrand factor from Weibel-Palade bodies, the release of angiogenic factors, and the surface presentation of adhesion molecules. [EXOC3L1](/details-gene/283849)'s annotated role in [SNARE binding](/details-go/GO:0000149) further supports its involvement in the membrane fusion process, suggesting it may help ensure that vesicles dock and fuse at precise locations on the endothelial cell membrane. ## Research Directions The specific expression of [EXOC3L1](/details-gene/283849) in endothelial cells, coupled with its role in exocytosis, opens several avenues for investigation into vascular biology and disease. Its 'like' designation suggests it may have redundant or specialized functions compared to its paralog, EXOC3, which requires further characterization. ### Testable Hypotheses 1. **[EXOC3L1](/details-gene/283849) selectively mediates the secretion of pro-angiogenic factors from endothelial tip cells.** The process of angiogenesis requires the polarized secretion of matrix-degrading enzymes and growth factors. [EXOC3L1](/details-gene/283849) may be a specialized component of the exocyst complex required for this targeted secretion at the leading edge of migrating endothelial cells. * **Experimental Approach:** Utilize an in vitro 3D sprouting angiogenesis model with endothelial spheroids. Deplete [EXOC3L1](/details-gene/283849) using shRNA and quantify sprout length and tip cell formation. Use super-resolution microscopy to assess the co-localization of [EXOC3L1](/details-gene/283849) with vesicle markers (e.g., Rab8) and secreted factors (e.g., MMPs) at the migratory front. 2. **In the pulmonary vasculature, [EXOC3L1](/details-gene/283849) is essential for the regulated exocytosis of Weibel-Palade bodies in response to inflammatory stimuli.** The specific identification in [pulmonary artery endothelial cells](/details-cell/CL1001568) and [lung microvascular endothelial cells](/details-cell/CL2000016) suggests a role in lung-specific vascular responses, such as inflammation and thrombosis. * **Experimental Approach:** Isolate primary human lung microvascular endothelial cells (HMVEC-L) and knock down [EXOC3L1](/details-gene/283849) using siRNA. Stimulate the cells with thrombin or TNF-alpha and measure the secretion of von Willebrand factor (vWF) and surface expression of P-selectin, both stored in Weibel-Palade bodies, using ELISA and flow cytometry, respectively. 3. **[EXOC3L1](/details-gene/283849) expression is dynamically regulated by shear stress to control vasomodulator release.** Endothelial cells respond to blood flow (shear stress) by releasing vasodilators like nitric oxide (NO) and prostacyclin. This process involves the trafficking and exocytosis of vesicles containing the necessary enzymes (e.g., eNOS). [EXOC3L1](/details-gene/283849) might be a component of the machinery linking mechanical sensing to secretion. * **Experimental Approach:** Culture endothelial cells in a parallel-plate flow chamber to apply laminar shear stress. Quantify [EXOC3L1](/details-gene/283849) mRNA and protein levels after exposure to physiological flow. In [EXOC3L1](/details-gene/283849)-depleted cells, measure flow-induced NO production using a fluorescent probe like DAF-FM diacetate and assess the localization of eNOS-containing vesicles. ### Therapeutic Potential Given its restricted expression in the endothelium and its fundamental role in secretion, [EXOC3L1](/details-gene/283849) could represent a novel therapeutic target for diseases characterized by endothelial dysfunction. Inhibiting its function could potentially dampen pathological angiogenesis in tumors or reduce the inflammatory response in conditions like acute respiratory distress syndrome (ARDS) by limiting the secretion of pro-inflammatory mediators from lung endothelial cells. However, its precise, non-redundant functions must first be elucidated to predict the systemic effects of its modulation.

Genular Protein ID: 2003708960

Symbol: EX3L1_HUMAN

Name: Exocyst complex component 3-like protein

UniProtKB Accession Codes:

Q86VI1 A8K7I9 Q8NAD2 Q8TEN2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 1 ExpressionAtlas 1 GO 7 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 12693554

Title: Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones.

PubMed ID: 12693554

DOI: 10.1093/dnares/10.1.49

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 746
  • Mass: 81678
  • Checksum: C762DE3E63D782C9
  • Sequence:
    • MDSAAKDEMQ PALSPGPEWP EQERAEQLAR GAALKWASGI FYRPEQLARL GQYRSREVQR 
TCSLESRLKS VMQSYLEGVQ TGVWQLAQAI EVVQGTREAL SQARGLLQGM SQALQTLEPL 
RERVAQHKQL QALSHLLPRL RAVPAAVSHT QTLIDGQQFL EAYVSLRELE QLREDTWAPL 
GGLELPVFQG LDLLFEALGQ AVEAAAGAAG KLAREDPALL VAAVRVAEVE TGRTTPLGQV 
PRDWRQRCLR ALQEGLEQAH FGSPLLPAPG ALPGWLEALR VALPVELATA EALVAPCCPP 
QYNVVQLWAH TLHSGLRRSL QNLLAGPELE AADAFALLHW ALHVYLGQEM MGSLELGPEA 
DVSQLEPLLT LENIEQLEAT FVANIQASVS QWLQNALDGE VAEWGREHGP NTDPSGSYYS 
PMPAIVLQIL EENIRVASLV SESLQQRVHG MALSELGTFL RSFSDALIRF SRDHFRGKSM 
APHYVPYLLA ALNHKSALSS SVSVLQLDGA PSGALAPVEA ALDELQRRIY RLVLEALQAE 
LQPLFADLPS RQWLSSPELL QSVCERTGRF CRDFWRVRNP TVQLLLAEAE RAVVLQYLSA 
LMQGRLVCRG ADERTQAAER LRHDAAQLQQ LFLSLGLEEN AHCAPVLLAL RELLNLRDPA 
LLGLEVAGLR QQFPDVSEDH VSALLGLRGD LSREQHLAAL SSLQAALPPS PRASRRVLFS 
LVPAPALAPA SCLPSGSCAR ALLLAE