NP_954712.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
128,819 Da
NCBI Official Full Name
protein unc-13 homolog D
NCBI Official Synonym Full Names
unc-13 homolog D
NCBI Protein Information
protein unc-13 homolog D
UniProt Protein Name
Protein unc-13 homolog D
UniProt Synonym Protein Names
Munc13-4
NCBI Summary for UNC13D
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]
UniProt Comments for UNC13D
UNC13D: 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. Defects in UNC13D are the cause of familial hemophagocytic lymphohistiocytosis type 3 (FHL3); also known as HPLH3. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a non-malignant infiltration of macrophages and activated T-lymphocytes in lymph nodes, spleen, and other organs is also found. Belongs to the unc-13 family. 3 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 17q25.1
Cellular Component: lysosome
Molecular Function: protein binding; Rab GTPase binding
Biological Process: positive regulation of exocytosis; regulation of mast cell degranulation
Disease: Hemophagocytic Lymphohistiocytosis, Familial, 3
Research Articles on UNC13D
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Products associated with anti-UNC13D antibody
Pathways associated with anti-UNC13D antibody
Diseases associated with anti-UNC13D antibody
Organs/Tissues associated with anti-UNC13D antibody
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