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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 NCBI 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

Gene Tree: Epg5

Human
homologs
Human Homolog EPG5, ectopic P-granules autophagy protein 5 homolog (C. elegans)
NCBI Gene ID 57724
neXtProt AC  NX_Q9HCE0
Human Synonyms  HEEW1, hEPG5, KIAA1632, VICIS
Human Chr (Location)  18q12.3; chr18:45800599-45967339 (-)  GRCh38
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 )
 
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.
 
Interactions
Epg5 interacts with 331 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Process autophagic vacuole maturation, autophagy, ...
Component cell, cytoplasm, ...
Function molecular_function
External Resources: FuncBase
Expression
cDNA source data(7)
External Resources: GEO   Expression Atlas
Molecular
reagents
All nucleic(7) cDNA(7)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000039840 (Evidence)
Entrez Gene100502841 (Evidence)
DFCITC1597267, TC1613018
DoTSDT.101725178, DT.529131
NIA Mouse Gene IndexU018922
Consensus CDS ProjectCCDS57126.1
International Mouse Knockout Project StatusEpg5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 100502841 NCBI Gene Model | MGI Sequence Detail 96561 C57BL/6J ±  kb
transcript NM_001195633 RefSeq | MGI Sequence Detail 9672 C57BL/6 
polypeptide Q80TA9 UniProt | EBI | MGI Sequence Detail 2572 Not Applicable 

For the selected sequences
All sequences(28) RefSeq(10) 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
Graphical View of Protein Domain Structure
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(29)
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
09/09/2014
MGI 5.19
The Jackson Laboratory