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Tbio
UNC13D
Protein unc-13 homolog D

Protein Summary
Description
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. 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 ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000207549
  • ENSP00000207549
  • ENSG00000092929
  • ENST00000412096
  • ENSP00000388093

Symbol
  • FHL3
  • HLH3
  • HPLH3
  • Munc13-4
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
ligand (protein) perturbation
0.83
transcription factor binding site profile
0.82
transcription factor
0.79
cellular component
0.66
tissue sample
0.63


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 127.44   (req: < 5)
Gene RIFs: 48   (req: <= 3)
Antibodies: 195   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 127.44   (req: >= 5)
Gene RIFs: 48   (req: > 3)
Antibodies: 195   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (5)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
sex hormone-binding globulin measurement
2
1
2
90.2
mean platelet volume
1
1
1
73.9
testosterone measurement
1
1
1
63.4
red blood cell distribution width
1
1
1
25.4
apolipoprotein A 1 measurement
1
1
1
10
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
sex hormone-binding globulin measurement
2
90.2
mean platelet volume
1
73.9
testosterone measurement
1
63.4
red blood cell distribution width
1
25.4
apolipoprotein A 1 measurement
1
10
Pathways (5)
Immune System (R-HSA-168256)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Immune System
Reactome
Innate Immune System
Reactome
Neutrophil degranulation
Name
Explore in Pharos
Explore in Source
Immune System
Innate Immune System
Neutrophil degranulation
Gene Ontology Terms (21)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Protein-Protein Interactions (139)
1 – 10 of 139
RAB27A
Tchem
Family: Enzyme
Novelty: 0.00369416
Score: 0.952
Data Source: STRINGDB
STX11
Tbio
Novelty: 0.01670743
Score: 0.933
Data Source: STRINGDB
CAP1
Tbio
Family: Enzyme
Novelty: 0.0333464
Score: 0.919
Data Source: STRINGDB
MPO
Tchem
Family: Enzyme
Novelty: 0.00020698
Score: 0.913
Data Source: STRINGDB
ADA2
Tbio
Family: Enzyme
Novelty: 0.01077582
Score: 0.91
Data Source: STRINGDB
ELANE
Tclin
Family: Enzyme
Novelty: 0.00026112
Score: 0.908
Data Source: STRINGDB
LYZ
Tbio
Family: Enzyme
Novelty: 0.00151342
Score: 0.908
Data Source: STRINGDB
ARHGAP45
Tbio
Novelty: 0.13518861
Score: 0.906
Data Source: STRINGDB
STXBP2
Tbio
Novelty: 0.01896992
Score: 0.906
Data Source: STRINGDB
PLAC8
Tbio
Novelty: 0.00882894
Score: 0.906
Data Source: STRINGDB
Publication Statistics
PubMed Score  127.44

PubMed score by year
PubTator Score  98.32

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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