Target intelligence / Profile preview

Heart development protein with EGF-like domains 1 (HEG1)

Target
HEG1
Molecular classification
Other (Transmembrane protein with EGF-like domains), Cell junction protein
01

Overview

Heart development protein with EGF-like domains 1 (HEG1) is a conserved transmembrane protein containing EGF-like repeats, localized at endothelial cell-cell junctions[1][4]. It is essential for embryonic cardiovascular development, orchestrating endothelial cell junction formation and the maintenance of vascular integrity. HEG1 directly interacts with the Rasip1 and KRIT1 proteins, serving as a physical nexus for Rap1-dependent signaling that stabilizes cell junctions, negatively regulates RhoA/ROCK signaling, and controls vascular permeability[1][2]. Loss of HEG1 function results in defective heart and vessel structure in mice and zebrafish. HEG1 expression is also implicated in various cancers, particularly lung adenocarcinoma, where low expression correlates with worse prognosis, suggesting potential utility as a clinical biomarker[3].

Other names
Heart of glassProtein HEG homolog 1KIAA1237MST112MSTP112HEG
02

Biological functions

Negative regulation of Rho protein signal transductionNegative regulation of Rho-dependent protein serine/threonine kinase (ROCK) activityRegulation of membrane permeabilityVascular developmentEndothelial cell-cell junction assembly and stabilization
03

Disease associations

Cardiovascular disease (required for vascular integrity; mutations disrupt heart and vessel development[2])Cancer (serves as a prognostic biomarker in lung adenocarcinoma[3])
04

Safety considerations

Disruption leads to severe cardiovascular defects, loss of vascular integrity, and failure of vessel formation in animal models, indicating essential roles in development and homeostasis[2].
05

Biomarkers

HEG1 expression (prognostic marker for lung adenocarcinoma; lower expression is associated with poorer outcomes[3])

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