| Gene Symbol |
UNC13D
|
| Entrez Gene |
201294
|
| Alt Symbol |
FHL3, HLH3, HPLH3, Munc13-4
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
unc-13 homolog D (C. elegans)
|
| Other Description |
protein unc-13 homolog D
|
| Swissprots |
B4DWG9 Q9H7K5 Q70J99
|
| Accessions |
EAW89322 EAW89323 EAW89324 Q70J99 AJ578444 CAE17516 AK024474 BAB15764 AK300316 BAG62068 AK301529 BAG63031 AW451853 BC024740 BC067084 AAH67084 EU831417 ACE87104 EU831510 ACE86429 XM_011524504 XP_011522806 XM_011524505 XP_011522807 XM_011524506 XP_011522808 XM_011524507 XP_011522809 XM_011524508 XP_011522810 NM_199242 NP_954712
|
| 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. {ECO:0000269|PubMed:15548590, ECO:0000269|PubMed:17237785}.
|
| Subcellular Location |
Cytoplasm. Membrane; Peripheral membrane protein. Late endosome. Recycling endosome. Lysosome. Note=Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles.
|
| 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. {ECO:0000269|PubMed:14622600, ECO:0000269|PubMed:15548590}.
|