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

Gene ID: 100502841, updated on 12-May-2024

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 autophagosome maturation and endocytic recycling. 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 autophagy protein 5 homolog). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 7.4), genital fat pad adult (RPKM 4.2) and 28 other tissues See more
Orthologs
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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

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)
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (3) 
  • Targeted (1)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA1632

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within anatomical structure homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in autophagosome maturation IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to dsDNA ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cytokine production involved in immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endosome to lysosome transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within homeostasis of number of cells IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within innate immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mucosal immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nucleotide transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within photoreceptor cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to unfolded protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_positive_effect toll-like receptor 9 signaling pathway ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
ectopic P granules protein 5 homolog
Names
ectopic P-granules autophagy protein 5 homolog

NCBI Reference Sequences (RefSeq)

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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

    See identical proteins and their annotated locations for NP_001182562.1

    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