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    Epg5 ectopic P-granules 5 autophagy tethering factor [ Mus musculus (house mouse) ]

    Gene ID: 100502841, updated on 13-Jan-2025

    Summary

    Official Symbol
    Epg5provided by MGI
    Official Full Name
    ectopic P-granules 5 autophagy tethering factorprovided by MGI
    Primary source
    MGI:MGI:1918673
    See related
    Ensembl:ENSMUSG00000039840 AllianceGenome:MGI:1918673
    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
    4732475F16; 5430411K18Rik
    Summary
    Acts upstream of or within several processes, including defense response to symbiont; homeostasis of number of retina cells; and host-mediated regulation of intestinal microbiota composition. Predicted to be located in lysosome and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. Used to study amyotrophic lateral sclerosis and retinitis pigmentosa. Human ortholog(s) of this gene implicated in Vici syndrome. Orthologous to human EPG5 (ectopic P-granules 5 autophagy tethering factor). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in thymus adult (RPKM 7.4), genital fat pad adult (RPKM 4.2) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Epg5 in Genome Data Viewer
    Location:
    18 E3; 18 52.38 cM
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (77981618..78080539)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (77938409..78037325)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_45130 Neighboring gene STARR-seq mESC enhancer starr_45133 Neighboring gene RIKEN cDNA F830208F22 gene Neighboring gene HAUS augmin-like complex, subunit 1 Neighboring gene STARR-positive B cell enhancer mm9_chr18:78030749-78031049 Neighboring gene ATP synthase F1 subunit alpha Neighboring gene proline-serine-threonine phosphatase-interacting protein 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:78061325-78061621 Neighboring gene STARR-positive B cell enhancer ABC_E2514 Neighboring gene sialic acid binding Ig-like lectin 15 Neighboring gene STARR-seq mESC enhancer starr_45139 Neighboring gene solute carrier family 14 (urea transporter), member 1 Neighboring gene predicted gene, 36338

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (5) 
    • Targeted (1)  1 citation

    Interactions

    General gene information

    Clone Names

    • KIAA1632

    Gene Ontology Provided by MGI

    Items 1 - 25 of 35
    Process Evidence Code Pubs
    acts_upstream_of_or_within anatomical structure homeostasis PubMed 
    acts_upstream_of_or_within apoptotic process PubMed 
    involved_in autophagosome maturation  
    acts_upstream_of_or_within autophagosome maturation PubMed 
    acts_upstream_of_or_within autophagy PubMed 
    involved_in cellular response to dsDNA  
    involved_in cellular response to dsDNA  
    acts_upstream_of_or_within cytokine production involved in immune response PubMed 
    acts_upstream_of_or_within defense response to virus PubMed 
    acts_upstream_of_or_within endocytic recycling PubMed 
    involved_in endosome to lysosome transport  
    involved_in endosome to lysosome transport  
    acts_upstream_of_or_within gene expression PubMed 
    acts_upstream_of_or_within homeostasis of number of cells PubMed 
    acts_upstream_of_or_within homeostasis of number of retina cells PubMed 
    acts_upstream_of_or_within host-mediated regulation of intestinal microbiota composition PubMed 
    acts_upstream_of_or_within inclusion body assembly PubMed 
    acts_upstream_of_or_within inflammatory response PubMed 
    acts_upstream_of_or_within innate immune response PubMed 
    acts_upstream_of_or_within interferon-mediated signaling pathway PubMed 
    acts_upstream_of_or_within intracellular receptor signaling pathway PubMed 
    acts_upstream_of_or_within maintenance of protein complex location PubMed 
    acts_upstream_of_or_within mucosal immune response PubMed 
    acts_upstream_of_or_within neuron apoptotic process PubMed 
    involved_in nucleotide transport  
    involved_in nucleotide transport  
    acts_upstream_of_or_within photoreceptor cell differentiation PubMed 
    acts_upstream_of_or_within protein aggregate center assembly PubMed 
    acts_upstream_of_or_within protein catabolic process PubMed 
    acts_upstream_of_or_within response to type III interferon PubMed 
    acts_upstream_of_or_within response to unfolded protein PubMed 
    acts_upstream_of_or_within response to virus PubMed 
    acts_upstream_of_positive_effect toll-like receptor 9 signaling pathway  
    acts_upstream_of_positive_effect toll-like receptor 9 signaling pathway  
    acts_upstream_of_or_within ubiquitin-dependent protein catabolic process PubMed 
    Items 1 - 25 of 35
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in lysosome  
    located_in lysosome  
    located_in perinuclear region of cytoplasm  
    located_in perinuclear region of cytoplasm  

    General protein information

    Preferred Names
    ectopic P granules protein 5 homolog
    Names
    ectopic P-granules autophagy protein 5 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_001195633.2NP_001182562.1  ectopic P granules protein 5 homolog

      Status: VALIDATED

      Source sequence(s)
      AC126553
      Consensus CDS
      CCDS57126.1
      UniProtKB/Swiss-Prot
      Q80TA9
      Related
      ENSMUSP00000038681.6, ENSMUST00000044622.7

    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_000084.7 Reference GRCm39 C57BL/6J

      Range
      77981618..78080539
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526445.5XP_006526508.1  ectopic P granules protein 5 homolog isoform X1

    2. XM_017317778.3XP_017173267.1  ectopic P granules protein 5 homolog isoform X2

    RNA

    1. XR_386367.3 RNA Sequence

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