UNC13D
Domain
The MHD1 and MHD2 domains mediate localization on recycling endosomes and lysosome.
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 Ca(2+)-dependent secretory lysosome exocytosis in mast cells.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the unc-13 family.
Tissue Specificity
Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and placenta, and at very low levels in brain, heart, skeletal muscle and kidney. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells.
Cellular localization
- Cytoplasm
- Membrane
- Peripheral membrane protein
- Late endosome
- Recycling endosome
- Lysosome
- Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles.
Alternative names
Protein unc-13 homolog D, Munc13-4, UNC13D