UNC13D

Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.^[5]

UNC13D
Identifiers
Aliases	UNC13D, FHL3, HLH3, HPLH3, Munc13-4, unc-13 homolog D
External IDs	OMIM: 608897; MGI: 1917700; HomoloGene: 26714; GeneCards: UNC13D; OMA:UNC13D - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.1 Start 75,827,225 bp[1] End 75,844,552 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 115,952,921 bp[2] End 115,968,787 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte bone marrow cell spleen right lung upper lobe of left lung monocyte sural nerve blood appendix lymph node Top expressed in granulocyte embryo morula blood blastocyst thymus embryo epiblast mesenteric lymph nodes spleen More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm Weibel-Palade body recycling endosome endosome late endosome lysosome exocytic vesicle membrane extracellular region cytosol azurophil granule lumen endoplasmic reticulum intracellular membrane-bounded organelle Biological process natural killer cell degranulation regulation of mast cell degranulation germinal center formation positive regulation of exocytosis positive regulation of substrate adhesion-dependent cell spreading defense response to virus granuloma formation positive regulation of regulated secretory pathway phagocytosis exocytosis neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 201294 70450 Ensembl ENSG00000092929 ENSMUSG00000057948 UniProt Q70J99 B2RUP2 RefSeq (mRNA) NM_199242 NM_001009573 RefSeq (protein) NP_954712 NP_001009573 Location (UCSC) Chr 17: 75.83 – 75.84 Mb Chr 11: 115.95 – 115.97 Mb PubMed search [3] [4]
Wikidata
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Function

Munc13-4 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.

Clinical significance

Mutations in the UNC13D gene are associated with hemophagocytic lymphohistiocytosis type 3.^[5]