Version 5.4
Homo sapiens Gene: UNC13D
Summary
InnateDB Gene IDBG-68992.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UNC13D
Gene Name unc-13 homolog D (C. elegans)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000092929
Encoded Proteins
IDBP-68994
unc-13 homolog D (C. elegans)
IDBP-384553
unc-13 homolog D (C. elegans)
IDBP-764430
IDBP-762840
IDBP-759345
IDBP-759455
IDBP-762111
IDBP-762783
IDBP-759078
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:75827225-75844717
Strand Reverse strand
Band q25.1
Transcripts
ENST00000207549 ENSP00000207549
ENST00000412096 ENSP00000388093
ENST00000590856
ENST00000587105 ENSP00000466377
ENST00000587504
ENST00000586519 ENSP00000466149
ENST00000586108 ENSP00000464749
ENST00000587495
ENST00000590762 ENSP00000467653
ENST00000586930
ENST00000592386 ENSP00000466826
ENST00000591563
ENST00000585574
ENST00000589670 ENSP00000466758
ENST00000591616
ENST00000586147 ENSP00000466543
ENST00000588774
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:0002432 granuloma formation
GO:0002467 germinal center formation
GO:0006909 phagocytosis
GO:0043304 regulation of mast cell degranulation
GO:0043320 natural killer cell degranulation
GO:0045921 positive regulation of exocytosis
GO:0051607 defense response to virus
Cellular Component
GO:0005764 lysosome
GO:0005770 late endosome
GO:0016020 membrane
GO:0055037 recycling endosome
GO:0070382 exocytic vesicle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000057948
View Gene Order
ENSBTAG00000013556
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.41045
RefSeq NM_199242 XM_006721762 XM_006721764
HUGO
OMIM
CCDS CCDS11730
HPRD 10598
IMGT
EMBL
GenPept
RNA Seq Atlas

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