Mouse anti-Human/Mouse/Rat sapiens (Human) DEF6 Monoclonal Antibody

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:12651066, PubMed:15023524). Can regulate cell morphology in cooperation with activated RAC1 (By similarity). Involved in immune homeostasis by ensuring proper trafficking and availability of T-cell regulator CTLA-4 at T-cell surface (PubMed:31308374). Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling (By similarity)

Subcellular Location

Cytoplasm; Cell membrane; Nucleus; Cytoplasm, cytoskeleton; Cytoplasm, perinuclear region; Cell projection, filopodium

Disease Association

Immunodeficiency 87 and autoimmunity (IMD87) : An autosomal recessive disorder with onset in infancy or early childhood. It is characterized by increased susceptibility to infections, often Epstein-Barr virus, as well as lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. The disorder results primarily from defects in T-cell function. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Broadly expressed in the immune system. Highly expressed in T cells (PubMed:31308374)

Subunit

Interacts with ZAP70 (By similarity). Interacts with IRF4, activated RAC1 and F-actin. Both the phosphorylated and non-phosphorylated forms bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3). Interacts with RAB11A (PubMed:31308374)

• Gupta S. et al. Molecular cloning of IBP, a SWAP-70 homologous GEF, which is highly expressed in the immune system. — Hum. Immunol. (2003)
• Mavrakis K.J. et al. DEF6, a novel PH-DH-like domain protein, is an upstream activator of the Rho GTPases Rac1, Cdc42, and RhoA. — Exp. Cell Res. (2004)
• Mungall A.J. et al. The DNA sequence and analysis of human chromosome 6. — Nature (2003)
• Gupta S. et al. T cell receptor engagement leads to the recruitment of IBP, a novel guanine nucleotide exchange factor, to the immunological synapse. — J. Biol. Chem. (2003)
• Oka T. et al. Cooperation of DEF6 with activated Rac in regulating cell morphology. — J. Biol. Chem. (2007)
• Mayya V. et al. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. — Sci. Signal. (2009)
• Choudhary C. et al. Lysine acetylation targets protein complexes and co-regulates major cellular functions. — Science (2009)
• Burkard T.R. et al. Initial characterization of the human central proteome. — BMC Syst. Biol. (2011)