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    C9orf72 C9orf72, member of C9orf72-SMCR8 complex [ Mus musculus (house mouse) ]

    Gene ID: 73205, updated on 9-Dec-2024

    Summary

    Official Symbol
    C9orf72provided by MGI
    Official Full Name
    C9orf72, member of C9orf72-SMCR8 complexprovided by MGI
    Primary source
    MGI:MGI:1920455
    See related
    Ensembl:ENSMUSG00000028300 AllianceGenome:MGI:1920455
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dennd9; 3110043O21Rik
    Summary
    Enables small GTPase binding activity. Involved in several processes, including axon extension; late endosome to lysosome transport; and regulation of synaptic vesicle cycle. Located in several cellular components, including extracellular space; perikaryon; and presynapse. Is active in glutamatergic synapse; hippocampal mossy fiber to CA3 synapse; and postsynapse. Is expressed in several structures, including adipose tissue; alimentary system; genitourinary system; nervous system; and sensory organ. Used to study autoimmune disease. Human ortholog(s) of this gene implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis 1. Orthologous to human C9orf72 (C9orf72-SMCR8 complex subunit). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 12.1), CNS E18 (RPKM 11.9) and 26 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See C9orf72 in Genome Data Viewer
    Location:
    4 A5; 4 17.13 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (35191285..35226153, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (35191285..35226153, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene MOB kinase activator 3B Neighboring gene predicted gene, 52727 Neighboring gene STARR-positive B cell enhancer ABC_E9236 Neighboring gene STARR-positive B cell enhancer mm9_chr4:35078889-35079190 Neighboring gene STARR-seq mESC enhancer starr_09939 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:35103331-35103583 Neighboring gene interferon kappa Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:35173352-35173535 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene uncharacterized LOC118568669 Neighboring gene STARR-seq mESC enhancer starr_09941 Neighboring gene cell division cycle associated 3 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity  
    contributes_to guanyl-nucleotide exchange factor activity  
    contributes_to guanyl-nucleotide exchange factor activity  
    enables protein binding PubMed 
    enables small GTPase binding PubMed 
    enables small GTPase binding  
    Items 1 - 25 of 28
    Process Evidence Code Pubs
    involved_in autophagy  
    involved_in autophagy  
    involved_in autophagy  
    involved_in axon extension PubMed 
    involved_in axon extension  
    involved_in endocytosis  
    involved_in endocytosis  
    involved_in endocytosis  
    involved_in late endosome to lysosome transport PubMed 
    involved_in negative regulation of exocytosis PubMed 
    involved_in negative regulation of immune response PubMed 
    involved_in negative regulation of protein phosphorylation  
    involved_in positive regulation of GTPase activity  
    involved_in positive regulation of macroautophagy  
    involved_in positive regulation of macroautophagy  
    involved_in regulation of TORC1 signaling PubMed 
    involved_in regulation of TORC1 signaling  
    involved_in regulation of actin filament organization PubMed 
    involved_in regulation of actin filament organization  
    involved_in regulation of autophagosome assembly  
    involved_in regulation of autophagosome assembly  
    involved_in regulation of autophagy PubMed 
    involved_in regulation of autophagy  
    involved_in regulation of autophagy PubMed 
    involved_in regulation of protein localization PubMed 
    involved_in regulation of synaptic vesicle cycle PubMed 
    involved_in stress granule assembly  
    involved_in stress granule assembly  
    Items 1 - 25 of 28
    Items 1 - 20 of 48
    Component Evidence Code Pubs
    part_of Atg1/ULK1 kinase complex  
    part_of Atg1/ULK1 kinase complex  
    located_in Flemming body  
    located_in Flemming body  
    located_in P-body  
    located_in P-body  
    is_active_in autophagosome  
    located_in autophagosome  
    located_in autophagosome  
    located_in axonal growth cone  
    located_in axonal growth cone  
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytoplasmic stress granule  
    located_in cytoplasmic stress granule  
    located_in cytosol  
    located_in dendrite  
    located_in dendrite  
    is_active_in endosome  
    located_in endosome  
    located_in endosome  
    located_in extracellular space PubMed 
    located_in extracellular space  
    is_active_in glutamatergic synapse PubMed 
    is_active_in glutamatergic synapse PubMed 
    part_of guanyl-nucleotide exchange factor complex  
    part_of guanyl-nucleotide exchange factor complex  
    is_active_in hippocampal mossy fiber to CA3 synapse PubMed 
    is_active_in hippocampal mossy fiber to CA3 synapse PubMed 
    located_in intracellular membrane-bounded organelle  
    located_in lysosome  
    located_in lysosome  
    located_in main axon  
    located_in main axon  
    located_in neuron projection PubMed 
    located_in nuclear membrane  
    located_in nucleus PubMed 
    located_in nucleus  
    located_in perikaryon PubMed 
    located_in perikaryon  
    located_in perikaryon  
    is_active_in postsynapse PubMed 
    located_in postsynapse PubMed 
    is_active_in postsynapse PubMed 
    located_in presynapse PubMed 
    located_in presynaptic cytosol  
    is_active_in presynaptic cytosol  
    Items 1 - 20 of 48

    General protein information

    Preferred Names
    guanine nucleotide exchange factor C9orf72 homolog
    Names
    guanine nucleotide exchange C9orf72 homolog
    protein C9orf72 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001081343.2NP_001074812.1  guanine nucleotide exchange factor C9orf72 homolog isoform 1

      See identical proteins and their annotated locations for NP_001074812.1

      Status: VALIDATED

      Source sequence(s)
      AL831776
      Consensus CDS
      CCDS38708.1
      UniProtKB/Swiss-Prot
      A6PWW3, Q3TJP2, Q3U3D8, Q6DFW0
      Related
      ENSMUSP00000103762.4, ENSMUST00000108127.4
      Conserved Domains (1) summary
      pfam15019
      Location:61324
      C9orf72-like; C9orf72-like protein family
    2. NM_028466.2NP_082742.2  guanine nucleotide exchange factor C9orf72 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK014175, AL831776, BQ177018
      Consensus CDS
      CCDS89726.1
      UniProtKB/TrEMBL
      A2ANZ2, Q8K3B2
      Related
      ENSMUSP00000103761.2, ENSMUST00000108126.8
      Conserved Domains (1) summary
      pfam15019
      Location:9160
      C9orf72-like; C9orf72-like protein family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      35191285..35226153 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538292.4XP_006538355.1  guanine nucleotide exchange factor C9orf72 homolog isoform X1

      See identical proteins and their annotated locations for XP_006538355.1

      UniProtKB/Swiss-Prot
      A6PWW3, Q3TJP2, Q3U3D8, Q6DFW0
      Related
      ENSMUSP00000081775.4, ENSMUST00000084724.10
      Conserved Domains (1) summary
      pfam15019
      Location:61324
      C9orf72-like; C9orf72-like protein family
    2. XM_006538293.5XP_006538356.1  guanine nucleotide exchange factor C9orf72 homolog isoform X1

      See identical proteins and their annotated locations for XP_006538356.1

      UniProtKB/Swiss-Prot
      A6PWW3, Q3TJP2, Q3U3D8, Q6DFW0
      Conserved Domains (1) summary
      pfam15019
      Location:61324
      C9orf72-like; C9orf72-like protein family
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