Version 5.4
Mus musculus Protein: Def6
Summary
InnateDB Protein IDBP-158006.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Def6
Protein Name differentially expressed in FDCP 6
Synonyms 2410003F05Rik; 6430538D02Rik; AV094905; Ibp; Slat; Slat2; Slat6;
Species Mus musculus
Ensembl Protein ENSMUSP00000002327
InnateDB Gene IDBG-158004 (Def6)
Protein Structure
UniProt Annotation
Function Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling. Required for optimal T-cell effector function, lymphocyte homeostasis and the prevention of sytemic autoimmunity (By similarity). {ECO:0000250}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:12648457}. Cell membrane {ECO:0000269PubMed:12648457}. Nucleus {ECO:0000269PubMed:12648457}. Note=Recruited to the plasma membrane upon binding phosphatidylinositol 3,4,5-trisphosphate.
Disease Associations Note=Defects in Def6 results in spontaneous development of a lupus-like syndrome in aging female mice. It is characterized by the accumulation of effector/memory T-cells and IgG B-cells, profound hypergammaglobulinemia, autoantibody production, and glomerulonephritis. {ECO:0000269PubMed:12923183}.
Tissue Specificity Thymus. {ECO:0000269PubMed:12648457}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0016020 membrane
Protein Structure and Domains
PDB ID MGI:1346328
InterPro IPR001849 Pleckstrin homology domain
PFAM PF00169
PRINTS
PIRSF
SMART SM00233
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8C2K1
PhosphoSite PhosphoSite-Q8C2K1
TrEMBL
UniProt Splice Variant
Entrez Gene 23853
UniGene Mm.204731
RefSeq NP_081461
MGI ID
MGI Symbol Def6
OMIM
CCDS CCDS28574
HPRD
IMGT
EMBL AF329497 AK010356 AK038050 AK088460 AY241695 AY278770 BC120500 BC131953 CT009658
GenPept AAI20501 AAI31954 AAO67354 AAO91768 AAQ19048 BAB26876 BAC40366 BAE20528 CAQ51695

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