Version 5.4
Homo sapiens Protein: EPG5
Summary
InnateDB Protein IDBP-2857.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EPG5
Protein Name ectopic P-granules autophagy protein 5 homolog (C. elegans)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000282041
InnateDB Gene IDBG-2851 (EPG5)
Protein Structure
UniProt Annotation
Function Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. {ECO:0000269PubMed:20550938, ECO:0000269PubMed:23222957}.
Subcellular Localization
Disease Associations Vici syndrome (VICIS) [MIM:242840]: A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. {ECO:0000269PubMed:23222957}. Note=The disease is caused by mutations affecting the gene represented in this entry. Affected individuals show homozygosity or compound heterozygosity for truncating mutations, aberrant splicing and/or missense mutations. Parental studies suggest recessive inheritance with no carrier manifestation (PubMed:23222957). {ECO:0000269PubMed:23222957}.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006914 autophagy
GO:0032456 endocytic recycling
GO:0097352 autophagic vacuole maturation
Cellular Component
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9HCE0
PhosphoSite PhosphoSite-Q9HCE0
TrEMBL Q9BYJ3
UniProt Splice Variant
Entrez Gene 57724
UniGene Hs.514843
RefSeq NP_066015
HUGO HGNC:29331
OMIM 615068
CCDS CCDS11926
HPRD 11157
IMGT
EMBL AB046852 AC087685 AC090355 AK023817 AL583915 BC003695 BC130614
GenPept AAH03695 AAI30615 BAB13458 BAB14689 CAC29499

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca