UNC13D [The Human Chemical-Genetic Interaction Map Project]

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======= UNC13D =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: UNC13D
  * **<color #00a2e8>Official Name</color>**: unc-13 homolog D
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=201294|201294]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q70J99|Q70J99]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=UNC13D&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20UNC13D|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608897|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|C2|
|Membr traf MHD|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|granuloma formation|
|Weibel-Palade body|
|natural killer cell degranulation|
|germinal center formation|
|chronic inflammatory response|
|natural killer cell activation involved in immune response|
|natural killer cell mediated cytotoxicity|
|exocytic vesicle|
|natural killer cell mediated immunity|
|regulation of mast cell degranulation|
|regulation of mast cell activation involved in immune response|
|positive regulation of substrate adhesion-dependent cell spreading|
|leukocyte mediated cytotoxicity|
|regulation of mast cell activation|
|regulation of leukocyte degranulation|
|regulation of substrate adhesion-dependent cell spreading|
|positive regulation of regulated secretory pathway|
|natural killer cell activation|
|regulation of myeloid leukocyte mediated immunity|
|positive regulation of exocytosis|
|cell killing|
|azurophil granule lumen|
|lymphocyte activation involved in immune response|
|recycling endosome|
|positive regulation of cell-substrate adhesion|
|late endosome|
|Rab GTPase binding|
|positive regulation of cell morphogenesis involved in differentiation|
|regulation of regulated secretory pathway|
|defense response to virus|
|regulation of leukocyte mediated immunity|
|regulation of cell-substrate adhesion|
|positive regulation of immune effector process|
|regulation of exocytosis|
|lysosome|
|lymphocyte mediated immunity|
|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains|
|response to virus|
|regulation of cell morphogenesis involved in differentiation|
|phagocytosis|
|regulation of intracellular transport|
|lymphocyte activation|
|positive regulation of secretion by cell|
|positive regulation of cell adhesion|
|positive regulation of secretion|
|regulation of immune effector process|
|neutrophil degranulation|
|regulation of cell morphogenesis|
|neutrophil activation involved in immune response|
|neutrophil mediated immunity|
|inflammatory response|
|neutrophil activation|
|granulocyte activation|
|leukocyte degranulation|
|myeloid leukocyte mediated immunity|
|myeloid cell activation involved in immune response|
|positive regulation of cell development|
|regulation of vesicle-mediated transport|
|myeloid leukocyte activation|
|regulation of leukocyte activation|
|adaptive immune response|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|regulation of cell activation|
|regulation of cell adhesion|
|intracellular membrane-bounded organelle|
|regulated exocytosis|
|regulation of secretion by cell|
|leukocyte mediated immunity|
|innate immune response|
|exocytosis|
|regulation of secretion|
|anatomical structure formation involved in morphogenesis|
|regulation of cellular localization|
|leukocyte activation|
|regulation of cell development|
|defense response to other organism|
|positive regulation of cell differentiation|
|positive regulation of transport|
|secretion by cell|
|export from cell|
|regulation of anatomical structure morphogenesis|
|cell activation|
|immune effector process|
|secretion|
|positive regulation of immune system process|
|regulation of immune response|
|positive regulation of cellular component organization|
|response to other organism|
|response to external biotic stimulus|
|response to biotic stimulus|
|defense response|
|positive regulation of developmental process|
|regulation of immune system process|
|regulation of cell differentiation|
|regulation of transport|
|immune response|
|extracellular region|
|vesicle-mediated transport|
|membrane|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp217|Mdivi-1 15μM R05 exp217]]|-1.74|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.448|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 2641
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.99 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='UNC13D Expression in NALM6 Cells: 4.99'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>