Target intelligence / Profile preview

Jagunal homolog 1 (JAGN1)

Target
JAGN1
Molecular classification
Transmembrane protein, Vesicle-mediated transporter, Protein trafficking protein
01

Overview

Jagunal homolog 1 (JAGN1) is a conserved, tetraspanning transmembrane protein localized to the endoplasmic reticulum and involved in vesicle-mediated protein trafficking, particularly at the ER-Golgi interface[1][2]. JAGN1 is essential for the sorting and transport of specific protein cargoes, likely including glycosyltransferases and cell-type restricted proteins, by mediating their incorporation into COPII-coated vesicles for ER-to-Golgi transport and potentially facilitating their recycling via COPI-coated vesicles[1]. JAGN1 is particularly important for neutrophil differentiation, survival, and immune response, as demonstrated by the association of JAGN1 mutations with severe congenital neutropenia and additional immune dysfunctions[2][3][4]. Loss of function results in defective protein glycosylation and impaired neutrophil biology, making it a key protein in immune homeostasis and a mediator of vesicular trafficking,[2][1] though it is not currently known to be a direct drug target and no approved drugs act via this protein.

Other names
Protein jagunal homolog 1JAGN1GL009FLJ14602SCN6JAGN1phJAGN1
02

Biological functions

Vesicle-mediated transportRegulation of neutrophil differentiation and survivalRegulation of protein glycosylationEarly secretory pathway protein sorting
03

Disease associations

Severe congenital neutropenia (SCN6)Immune deficiencyLikely roles in other developmental and possibly inflammatory or infectious processes
04

Safety considerations

Potential risk of immunodeficiency if targeted, due to essential role in neutrophil differentiation and survival
05

Biomarkers

Severe congenital neutropenia (used diagnostically for identifying mutations)Neutrophil function assays (potential biomarker in research setting)

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