Epg5 ectopic P-granules autophagy protein 5 homolog (C. elegans) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Epg5provided by MGI
Official Full Name: ectopic P-granules autophagy protein 5 homolog (C. elegans)provided 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: human all
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Genomic context

Location:: 18; 18 E3

Exon count:: 44

Annotation release	Status	Assembly	Chr	Location
109	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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epg5 deficiency leads to primary ovarian insufficiency due to WT1 accumulation in mouse granulosa cells.
Title: Epg5 deficiency leads to primary ovarian insufficiency due to WT1 accumulation in mouse granulosa cells.
Intestinal antiviral signaling is controlled by autophagy gene Epg5 independent of the microbiota.
Title: Intestinal antiviral signaling is controlled by autophagy gene Epg5 independent of the microbiota.
apoptotic photoreceptor cell death in epg5(-/-) retinas may result from the elevated unfolded protein response.
Title: Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa.
Epg5-deficient mice as a model for investigating the pathogenesis of ALS and indicates that dysfunction of the autophagic-endolysosomal system causes selective damage of neurons associated with neurodegenerative diseases.
Title: Mice deficient in Epg5 exhibit selective neuronal vulnerability to degeneration.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW456499 (e-PCR)
- UniSTS:181150

AI661957 (e-PCR)
- UniSTS:166105

Homology

Homologs of the Epg5 gene: The Epg5 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, C.elegans, and frog.
Orthologs from Annotation Pipeline: 497 organisms have orthologs with human gene Epg5
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in autophagosome maturation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 endocytic recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosome to lysosome transport	ISO Inferred from Sequence Orthology more info
involved_in nucleotide transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within toll-like receptor 9 signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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

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Preferred Names: ectopic P granules 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.