JAGN1

JAGN1 (Jagunal Homolog 1) is a Protein Coding gene. The protein encoded is a transmembrane protein which functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Diseases associated with JAGN1 include Neutropenia, Severe Congenital, 6, Autosomal Recessive and Severe Congenital Neutropenia. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte.

Full Name

jagunal homolog 1

Function

Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils.

Biological Process

Cellular response to tunicamycinIEA:Ensembl
Defense response to fungusIEA:Ensembl
Endoplasmic reticulum organizationManual Assertion Based On ExperimentIBA:GO_Central
ExocytosisManual Assertion Based On ExperimentTAS:UniProtKB
Granulocyte colony-stimulating factor signaling pathwayManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of insulin secretion involved in cellular response to glucose stimulusIEA:Ensembl
Neutrophil differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Neutrophil mediated immunityIEA:Ensembl
Neutrophil migrationIEA:Ensembl
Protein transportIEA:UniProtKB-KW
Vesicle-mediated transportManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Neutropenia, severe congenital 6, autosomal recessive (SCN6):
A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

Topology

Cytoplasmic: 1-39
Helical: 40-60
Lumenal: 61-71
Helical: 72-92
Cytoplasmic: 93-96
Helical: 97-117
Lumenal: 118-137
Helical: 138-158
Cytoplasmic: 159-183