C9orf72 (Vector Vector will be determined during the manufacturing process, either pENTR223.1 or pUC

Length: 1446 Sequence: atgtcgactc tttgcccacc gccatctcca gctgttgcca agacagagat tgctttaagt ggcaaatcac ctttattagc agctactttt gcttactggg acaatattct tggtcctaga gtaaggcaca tttgggctcc aaagacagaa caggtacttc tcagtgatgg agaaataact tttcttgcca accacactct aaatggagaa atccttcgaa atgcagagag tggtgctata gatgtaaagt tttttgtctt gtctgaaaag ggagtgatta ttgtttcatt aatctttgat ggaaactgga atggggatcg cagcacatat ggactatcaa ttatacttcc acagacagaa cttagtttct acctcccact tcatagagtg tgtgttgata gattaacaca tataatccgg aaaggaagaa tatggatgca taaggaaaga caagaaaatg tccagaagat tatcttagaa ggcacagaga gaatggaaga tcagggtcag agtattattc caatgcttac tggagaagtg attcctgtaa tggaactgct ttcatctatg aaatcacaca gtgttcctga agaaatagat atagctgata cagtactcaa tgatgatgat attggtgaca gctgtcatga aggctttctt ctcaatgcca tcagctcaca cttgcaaacc tgtggctgtt ccgttgtagt aggtagcagt gcagagaaag taaataagat agtcagaaca ttatgccttt ttctgactcc agcagagaga aaatgctcca ggttatgtga agcagaatca tcatttaaat atgagtcagg gctctttgta caaggcctgc taaaggattc aactggaagc tttgtgctgc ctttccggca agtcatgtat gctccatatc ccaccacaca catagatgtg gatgtcaata ctgtgaagca gatgccaccc tgtcatgaac atatttataa tcagcgtaga tacatgagat ccgagctgac agccttctgg agagccactt cagaagaaga catggctcag gatacgatca tctacactga cgaaagcttt actcctgatt tgaatatttt tcaagatgtc ttacacagag acactctagt gaaagccttc ctggatcagg tctttcagct gaaacctggc ttatctctca gaagtacttt ccttgcacag tttctacttg tccttcacag aaaagccttg acactaataa aatatataga agacgatacg cagaagggaa aaaagccctt taaatctctt cggaacctga agatagacct tgatttaaca gcagagggcg atcttaacat aataatggct ctggctgaga aaattaaacc aggcctacac tcttttatct ttggaagacc tttctacact agtgtgcaag aacgagatgt tctaatgact Protein function: Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). 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 (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and modulating its protein kinase activity (PubMed:27617292). Positively regulates initiation of autophagy by regulating the RAB1A- dependent trafficking of the ATG1/ULK1 kinase complex to the phagophore which leads to autophagosome formation (PubMed:27334615). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131). Plays a role in endosomal trafficking (PubMed:24549040). May be involved in regulating the maturation of phagosomes to lysosomes. Regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation (PubMed:27723745). This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to cofilin activation (PubMed:27723745). Positively regulates axon extension and axon growth cone size in spinal motor neurons (PubMed:27723745). Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity. [The UniProt Consortium]