Acts as a guanine-nucleotide releasing factor (GEF) for Rab GTPases by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP . Acts as a GEF for RAB39A which enables HOPS-mediated autophagosome-lysosome membrane tethering and fusion in mammalian autophagy . Component of the C9orf72-SMCR8 complex where both subunits display GEF activity and that regulates autophagy . As part of the C9orf72-SMCR8-WDR41 (CSW) complex, functions as GEF for RAB8A and RAB39B, thereby promoting autophagosome maturation . As part of the C9orf72-SMCR8 complex, also functions as GTPase activating protein (GAP) for RAB8A and RAB11A in vitro . 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 . Promotes 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 (By similarity). Promotes the lysosomal localization and lysosome-mediated degradation of CARM1 which leads to inhibition of starvation-induced lipid metabolism (By similarity). 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 (By similarity). Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity (By similarity). .; [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. .

q96lt7

Guanine nucleotide exchange factor C9orf72,C9orf72 DENND9 DENNL72,Guanine nucleotide exchange C9orf72, C9orf72

Human

ELISA

ELISA 1:5000-1:20000

55kD

Mouse

Monoclonal

SA132

IgG2a, kappa

Protein A/G purified from cell culture supernatant.

>95% as determined by SDS-PAGE.

0.01M PBS, pH 7.4.

1 mg/ml

Use a manual defrost freezer and avoid repeated freeze-thaw cycles. Store at 4℃ short term (1-2 weeks). Store at -20℃ 12 months.