Version 5.4
Homo sapiens Protein: UNC13D
Summary
InnateDB Protein IDBP-384553.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UNC13D
Protein Name unc-13 homolog D (C. elegans)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000388093
InnateDB Gene IDBG-68992 (UNC13D)
Protein Structure
UniProt Annotation
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:0000269PubMed:15548590, ECO:0000269PubMed:17237785}.
Subcellular Localization Cytoplasm. Membrane; Peripheral membrane protein. Late endosome. Recycling endosome. Lysosome. Note=Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles.
Disease Associations Familial hemophagocytic lymphohistiocytosis 3 (FHL3) [MIM:608898]: 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. {ECO:0000269PubMed:14622600}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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:0000269PubMed:14622600, ECO:0000269PubMed:15548590}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0043304 regulation of mast cell degranulation
GO:0045921 positive regulation of exocytosis
Cellular Component
GO:0005764 lysosome
GO:0005770 late endosome
GO:0016020 membrane
GO:0055037 recycling endosome
GO:0070382 exocytic vesicle
Protein Structure and Domains
PDB ID
InterPro IPR000008 C2 domain
IPR019558 Mammalian uncoordinated homology 13, subgroup, domain 2
PFAM PF00168
PF10540
PRINTS PR00360
PIRSF
SMART SM00239
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q70J99
PhosphoSite PhosphoSite-Q70J99
TrEMBL K7EIH3
UniProt Splice Variant
Entrez Gene 201294
UniGene Hs.41045
RefSeq
HUGO HGNC:23147
OMIM 608897
CCDS
HPRD 10598
IMGT
EMBL AC087289 AJ578444 AK024474 AK301529 BC067084
GenPept AAH67084 BAB15764 BAG63031 CAE17516

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca