Gene Symbol: RGD1359108
Description: similar to RIKEN cDNA 3110043O21
Alias: guanine nucleotide exchange C9orf72 homolog, protein C9orf72 homolog
Species: rat
Products:     RGD1359108

Top Publications

  1. Farg M, Sundaramoorthy V, Sultana J, Yang S, Atkinson R, Levina V, et al. C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. Hum Mol Genet. 2014;23:3579-95 pubmed publisher
    ..Hence, this study identifies a role for C9ORF72 in Rab-mediated cellular trafficking. ..
  2. Xiao S, MacNair L, McGoldrick P, McKeever P, McLean J, Zhang M, et al. Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis. Ann Neurol. 2015;78:568-83 pubmed publisher
    ..Our antibodies have provided improved detection of C9orf72 protein isoforms, which will help elucidate its physiological function and role in ALS/FTLD. ..
  3. O Rourke J, Bogdanik L, Yáñez A, Lall D, Wolf A, Muhammad A, et al. C9orf72 is required for proper macrophage and microglial function in mice. Science. 2016;351:1324-9 pubmed publisher
    ..Thus, C9orf72 is required for the normal function of myeloid cells, and altered microglial function may contribute to neurodegeneration in C9orf72 expansion carriers. ..
  4. Sellier C, Campanari M, Julie Corbier C, Gaucherot A, Kolb Cheynel I, Oulad Abdelghani M, et al. Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. EMBO J. 2016;35:1276-97 pubmed publisher
    ..These results indicate that partial loss of function of C9ORF72 is not deleterious by itself but synergizes with Ataxin-2 toxicity, suggesting a double-hit pathological mechanism in ALS-FTD. ..
  5. Webster C, Smith E, Bauer C, Moller A, Hautbergue G, Ferraiuolo L, et al. The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy. EMBO J. 2016;35:1656-76 pubmed publisher
  6. Ferguson R, Serafeimidou Pouliou E, Subramanian V. Dynamic expression of the mouse orthologue of the human amyotropic lateral sclerosis associated gene C9orf72 during central nervous system development and neuronal differentiation. J Anat. 2016;229:871-891 pubmed publisher
    ..Our findings have implications for interpreting the pathophysiology caused by the repeat expansions in C9orf72 in mouse models. ..
  7. Yang M, Liang C, Swaminathan K, Herrlinger S, Lai F, Shiekhattar R, et al. A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy. Sci Adv. 2016;2:e1601167 pubmed publisher
    ..Thus, C9ORF72 and SMCR8 have similar functions in modulating autophagy induction by regulating ULK1 and play distinct roles in regulating autophagic flux. ..
  8. Atkinson R, Fernandez Martos C, Atkin J, Vickers J, King A. C9ORF72 expression and cellular localization over mouse development. Acta Neuropathol Commun. 2015;3:59 pubmed publisher
    ..Determining the physiological role of C9ORF72 protein may help to determine the role it plays in disease. ..
  9. Maharjan N, Künzli C, Buthey K, Saxena S. C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress. Mol Neurobiol. 2017;54:3062-3077 pubmed publisher
    ..Our study identifies a novel function for normal C9ORF72 in SG assembly and sheds light into how the mutant expansions might impair SG formation and cellular-stress-related adaptive responses. ..

More Information


  1. Sullivan P, Zhou X, Robins A, Paushter D, Kim D, Smolka M, et al. The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. Acta Neuropathol Commun. 2016;4:51 pubmed publisher
    ..In summary, our study elucidates potential physiological functions of C9orf72 and disease mechanisms of ALS/FTLD. ..
  2. Amick J, Roczniak Ferguson A, Ferguson S. C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling. Mol Biol Cell. 2016;27:3040-3051 pubmed
    ..Collectively these results identify strong physical and functional interactions between C9orf72 and SMCR8 and support a lysosomal site of action for this protein complex. ..
  3. Sivadasan R, Hornburg D, Drepper C, Frank N, Jablonka S, Hansel A, et al. C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons. Nat Neurosci. 2016;19:1610-1618 pubmed publisher
    ..This results in reduced axonal actin dynamics in C9ORF72-depleted motor neurons. Dominant negative Arf6 rescues this defect, suggesting that C9ORF72 acts as a modulator of small GTPases in a pathway that regulates axonal actin dynamics. ..
  4. Ugolino J, Ji Y, Conchina K, Chu J, Nirujogi R, Pandey A, et al. Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling. PLoS Genet. 2016;12:e1006443 pubmed publisher
    ..These results demonstrate that the C9orf72-SMCR8 protein complex functions in the regulation of metabolism and provide evidence that loss of C9orf72 function may contribute to the pathogenesis of relevant diseases. ..