National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory
Protein Information |
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|---|---|
| Protein Name | Differentially expressed in FDCP 6 |
| Accession Code | Q8C2K1 |
| Gene | Def6 |
| Organism | Mus musculus | House mouse (Taxonomy: 10090) |
| Part of Reference Proteome? | Yes |
| Sequence (Length: 630) |
Description |
Position in the Nuclear Envelope |
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|---|---|---|
| Location | Location ID | Description |
| Perinuclear Region | SL-0198 | The perinuclear region is the cytoplasmic region just around the nucleus. | Membrane Topology |
| Topology | Source | Annotation Type |
| Unknown | UniProt | Sequence Analysis | Assigned Ontology terms |
Description |
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|---|---|
| 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 (PubMed:12648457, PubMed:12923183). Can regulate cell morphology in cooperation with activated RAC1 (PubMed:12648457, PubMed:12923183). Involved in immune homeostasis by ensuring proper trafficking and availability of T-cell regulator CTLA-4 at T-cell surface (By similarity). 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 systemic autoimmunity (By similarity). {By SimilarityUniProtKB:Q9H4E7, Experimental EvidencePubMed:12648457, Experimental EvidencePubMed:12923183}. | Assigned Ontology terms |
Description |
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|---|---|
| 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. {Experimental EvidencePubMed:12923183}. | Database Associations |
| OMIM | |
| DisGeNET | |
Interactions with other proteins (2 interactors) |
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|---|---|---|---|
Database | Links |
| UNIPROT | Q8C2K1 A1KXF9 B2KF17 Q0VBU6 Q3V3M7 Q80XA9 Q9CRJ2 |
| Pfam | PF00169 |
| PROSITE | PS50003 |
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory