UNC13D
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| unc-13 homolog D | MIM:608897 | Ensembl:ENSG00000092929 | HGNC:HGNC:23147 | PA134919958 | 17q25.1 |
GO terms in UNC13D
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0017137 | Rab GTPase binding |
| MF | IPI | GO:0017137 | Rab GTPase binding |
| BP | IEA | GO:0002432 | granuloma formation |
| BP | IEA | GO:0002467 | germinal center formation |
| BP | IEA | GO:0006909 | phagocytosis |
| BP | IMP | GO:0043304 | regulation of mast cell degranulation |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IEA | GO:0043320 | natural killer cell degranulation |
| BP | IMP | GO:0045921 | positive regulation of exocytosis |
| BP | IEA | GO:0051607 | defense response to virus |
| BP | IEA | GO:1900026 | positive regulation of substrate adhesion-dependent cell spreading |
| BP | IGI | GO:1903307 | positive regulation of regulated secretory pathway |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005764 | lysosome |
| CC | IEA | GO:0005770 | late endosome |
| CC | IDA | GO:0005829 | cytosol |
| CC | IEA | GO:0016020 | membrane |
| CC | IDA | GO:0033093 | Weibel-Palade body |
| CC | TAS | GO:0035578 | azurophil granule lumen |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | IEA | GO:0055037 | recycling endosome |
| CC | IDA | GO:0070382 | exocytic vesicle |
Gene expression in normal tissue: UNC13D
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in UNC13D
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2291 | Deregulation of Rab and Rab Effector Genes in Bladder Cancer |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in UNC13D
CLASSFICATION
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