ID  Q8C2K1;
PN  Differentially expressed in FDCP 6;
GN  Def6;
OS  10090;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm {ECO:0000269|PubMed:12648457}. Cell membrane {ECO:0000269|PubMed:12648457}. Nucleus {ECO:0000250|UniProtKB:Q9H4E7}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9H4E7}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q9H4E7}. Cell projection, filopodium {ECO:0000250|UniProtKB:Q9H4E7}. Note=Recruited to the plasma membrane upon binding phosphatidylinositol 3,4,5-trisphosphate. Binds to actin filaments. {ECO:0000250|UniProtKB:Q9H4E7}.
DR  UNIPROT: Q8C2K1;
DR  UNIPROT: A1KXF9;
DR  UNIPROT: B2KF17;
DR  UNIPROT: Q0VBU6;
DR  UNIPROT: Q3V3M7;
DR  UNIPROT: Q80XA9;
DR  UNIPROT: Q9CRJ2;
DR  Pfam: PF00169;
DR  PROSITE: PS50003;
DE  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 (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). {ECO:0000250|UniProtKB:Q9H4E7, ECO:0000269|PubMed:12648457, ECO:0000269|PubMed:12923183}.
DE  Disease: 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:0000269|PubMed:12923183}.
DE  Reference Proteome: Yes;
DE  Interaction: Q61738; IntAct: EBI-1786373; Score: 0.54
DE  Interaction: Q3U1F9; IntAct: EBI-12603117; Score: 0.40
GO  GO:0005911;
GO  GO:0005737;
GO  GO:0005856;
GO  GO:0005829;
GO  GO:0030175;
GO  GO:0005654;
GO  GO:0005634;
GO  GO:0048471;
GO  GO:0005886;
GO  GO:0098876;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLNIPHDPVALEEHFRDDDDGPVSSQGYMPYLNKYILDKV
SQ  EEGAFVKEHFDELCWTLTAKKNYRADGIGSSPLSNQDAFRLWCLFNFLSEDKYPLIMVPDEVEYLLKKLLGSLSLEMGLG
SQ  ELEELLAQDAQSAQTAVGLSVWQFLELFNSGRCLRGVGRDSLSMAIQEVYQELIQDVLKQGYLWKRGHLRRNWAERWFQL
SQ  QPSSLCYFGSEECKEKRGTIPLDAHCCVEVLPDREGKRCMFCVKTASRTYEMSASDTRQRQEWTAAIQTAIRLQAEGKTS
SQ  LHKDLKQKRREQREQRERRRAAKEEELLRLQQLQEEKERKLQELELLQEAQRQAERLLQEEEERRRSQHKELQQALEGQL
SQ  REAEQARASMQAEMELKKEEAARQRQRIAELEEMQERLQEALQLEVKARRDEEAVRLAQTRLLEEEEEKLKQLMHLKEEQ
SQ  ERYIERAQQEKQELQQEMALQSRSLQHAQQQLEEVRQNRQRADEDVEAAQRKLRQASTNVKHWNVQMNRLMHPIEPGDKR
SQ  PTTSSSFTGFQPPPLARRDSSLKRLTRWGSQGNRTLSVNSSEQKSLNGGDETPILALASQEEKLDPAPGN
//