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Epg5
Gene Detail
Symbol

Name
ID
Epg5
ectopic P-granules autophagy protein 5 homolog (C. elegans)
MGI:1918673
Synonyms
5430411K18Rik, mKIAA1632
Feature Type
protein coding gene
Genetic Map
Chromosome 18
52.38 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr18:77938467-78035027 bp, + strand
From Ensembl annotation of GRCm38

  96561 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:14575  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: EPG5
Gene Tree: Epg5

Human
homologs
EPG5, ectopic P-granules autophagy protein 5 homolog (C. elegans)
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 57724
neXtProt AC: NX_Q9HCE0

Human Synonyms: HEEW1, hEPG5, KIAA1632, VICIS

Human Chr (Location): 18q12.3; chr18:45800580-45967339 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human EPG5

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(6) Targeted(1)
Incidental mutations (data from APF , CvDC )
 
Mice homozygous for a knock-out allele exhibit dysfunctional autophagy that leads to aggregate inclusions in motor neurons, motor neuron degeneration, denervation, muscle degeneration and premature death.
 
Phenotype Images(4)
Interactions
Epg5 interacts with 330 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Process autophagosome maturation, autophagy, ...
Component cell, cytoplasm, ...
Function molecular_function
External Resources: FuncBase
Expression
cDNA source data(7)
Other mouse links: GEO   Expression Atlas
Other vertebrate links: Xenbase epg5    NEW 
Molecular
reagents
All nucleic(7) cDNA(7)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000039840 (Evidence)
Entrez Gene 100502841 (Evidence)
DFCI TC1613018, TC1597267
DoTS DT.101725178, DT.529131
NIA Mouse Gene Index U018922
Consensus CDS Project CCDS57126.1
International Mouse Phenotyping Consortium Status Epg5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000039840 Ensembl Gene Model | MGI Sequence Detail 96561 C57BL/6J ±  kb
transcript ENSMUST00000044622 Ensembl | MGI Sequence Detail 9672 Not Applicable 
polypeptide ENSMUSP00000038681 Ensembl | MGI Sequence Detail 2572 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(8) UniProt(2)
Polymorphisms
SNPs within 2kb(654 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
Protein Ontology PR:000030414 ectopic P granules protein 5 homolog
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:196603 Zhao H, et al., Mice deficient in Epg5 exhibit selective neuronal vulnerability to degeneration. J Cell Biol. 2013 Mar 18;200(6):731-41
All references(27)
Other
accession IDs
MGI:2147255, MGI:2147364

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory