UNC13D

This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq]

Full Name

unc-13 homolog D (C. elegans)

Function

Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca2+-dependent secretory lysosome exocytosis in mast cells.

Biological Process

Biological Process defense response to virus Source:Ensembl
Biological Process germinal center formation Source:Ensembl
Biological Process granuloma formation Source:Ensembl
Biological Process natural killer cell degranulation Source:Ensembl
Biological Process phagocytosis Source:Ensembl
Biological Process positive regulation of exocytosis Source:UniProtKB2 Publications
Biological Process positive regulation of regulated secretory pathway Source:UniProtKB1 Publication
Biological Process positive regulation of substrate adhesion-dependent cell spreading Source:Ensembl
Biological Process regulation of mast cell degranulation Source:UniProtKB1 Publication
Biological Process secretion Source:GO_Central1 Publication

Cellular Location

Cytoplasm
Membrane
Late endosome
Recycling endosome
Lysosome
Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles.

Involvement in disease

Hemophagocytic lymphohistiocytosis, familial, 3 (FHL3):
A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.