Sequence Detail

ID/Version

Q6DFW0 Q3TJP2 Q3U3D8 A6PWW3 (UniProt | EBI)

Last sequence update: 2017-12-20
Last annotation update: 2024-07-24

Sequence description from provider

RecName: Full=Guanine nucleotide exchange factor C9orf72 homolog {ECO:0000305};

Provider

SWISS-PROT

Sequence

Polypeptide 481 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	85	98	3	18

Sequence references in MGI

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:206933 Farg MA, et al., C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. Hum Mol Genet. 2014 Jul 1;23(13):3579-95
J:232498 O'Rourke JG, et al., C9orf72 is required for proper macrophage and microglial function in mice. Science. 2016 Mar 18;351(6279):1324-9
J:236977 Yang M, et al., A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy. Sci Adv. 2016 Sep;2(9):e1601167
J:237194 Ugolino J, et al., Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling. PLoS Genet. 2016 Nov;12(11):e1006443
J:238205 Sivadasan R, et al., C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons. Nat Neurosci. 2016 Dec;19(12):1610-1618
J:240357 Burberry A, et al., Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease. Sci Transl Med. 2016 Jul 13;8(347):347ra93
J:240578 Sullivan PM, et al., The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. Acta Neuropathol Commun. 2016 May 18;4(1):51
J:248461 Atkinson RA, et al., C9ORF72 expression and cellular localization over mouse development. Acta Neuropathol Commun. 2015 Sep 25;3:59
J:250440 Ferguson R, et al., 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 Dec;229(6):871-891
J:272605 Liu Y, et al., A C9orf72-CARM1 axis regulates lipid metabolism under glucose starvation-induced nutrient stress. Genes Dev. 2018 Nov 1;32(21-22):1380-1397
J:292854 Xiao S, et al., Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels. Acta Neuropathol Commun. 2019 Oct 24;7(1):161
J:298381 Koppers M, et al., C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits. Ann Neurol. 2015 Sep;78(3):426-38