Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor activity and regulates autophagy . In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation . The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ULK1/ATG1 kinase complex and modulating its protein kinase activity . As part of the C9orf72-SMCR8 complex, stimulates RAB8A and RAB11A GTPase activity in vitro . Positively regulates initiation of autophagy by regulating the RAB1A-dependent trafficking of the ULK1/ATG1 kinase complex to the phagophore which leads to autophagosome formation . Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates . Plays a role in endosomal trafficking . May be involved in regulating the maturation of phagosomes to lysosomes . Promotes the lysosomal localization and lysosome-mediated degradation of CARM1 which leads to inhibition of starvation-induced lipid metabolism . Regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation . This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to CFL1/cofilin activation . Positively regulates axon extension and axon growth cone size in spinal motor neurons . Required for SMCR8 protein expression and localization at pre- and post-synaptic compartments in the forebrain, also regulates protein abundance of RAB3A and GRIA1/GLUR1 in post-synaptic compartments in the forebrain and hippocampus . Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity . ; [Isoform 1]: Regulates stress granule assembly in response to cellular stress. ; [Isoform 2]: Does not play a role in regulation of stress granule assembly in response to cellular stress.

Guanine nucleotide exchange factor C9orf72

q96lt7, q6dfw0, q66hc3

Human,Mouse,Rat

WB

WB 1:1000

~55 kD

Rabbit

50mM Tris-Glycine(pH 7.4), 0.15M NaCl, 40% Glycerol, 0.01% sodium azide and 0.05% BSA.

Store at -20°C. Stable for 12 months from date of receipt.