Gene

epg5

ID

ZDB-GENE-070705-307

Name

ectopic P-granules autophagy protein 5 homolog (C. elegans)

Symbol

epg5 Nomenclature History

Previous Names

si:dkey-165i4.3

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Acts upstream of or within autophagosome-lysosome fusion; intestinal epithelial cell development; and intestinal stem cell homeostasis. Predicted to be active in cytoplasm. Is expressed in several structures, including blastodisc; liver; oral cavity; pleuroperitoneal region; and unfertilized egg. Used to study Vici syndrome. Human ortholog(s) of this gene implicated in Vici syndrome. Orthologous to human EPG5 (ectopic P-granules 5 autophagy tethering factor).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Meneghetti et al., 2019

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 18 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Allele	Type	Localization	Consequence	Mutagen	Supplier
ia31	Allele with one deletion	Exon 2	Unknown	CRISPR
sa14095	Allele with one point mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa17986	Allele with one point mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this) European Zebrafish Resource Center (EZRC) (order this)
sa33676	Allele with one point mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this) European Zebrafish Resource Center (EZRC) (order this)

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Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Citations
CRISPR1-epg5	ia31	(3)

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Human Disease

Associated With epg5 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Vici syndrome	Alliance	Vici syndrome	242840

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Associated With epg5 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Vici syndrome	epg5^ia31/ia31	standard conditions	Meneghetti et al., 2019

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Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR051436	Autophagy-related EPG5

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Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A5WUT8	InterPro
UniProtKB:A0A8M3ASP3	InterPro	2546
UniProtKB:A0A8M2BCV4	InterPro	2548

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Transcripts

Genome Browsers

Genome Build: GRCz11Chromosome: 5

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	epg5-201 (1) Ensembl	Ensembl		7,599 nt	Select Tool ZFIN BLAST

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Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

No data available

Marker Relationships

Relationship	Marker Type	Marker	Accession Numbers	Citations
Contained in	BAC	DKEY-165I4	CR753867	ZFIN Curated Data

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Sequences

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:NM_001110525 (1)	7599 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:CR735112 (1)	156543 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:A0A8M2BCV4 (1)	2548 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Species	Symbol	Chromosome	Accession #	Evidence
Human	EPG5	18	Ensembl:ENSG00000152223 Gene:57724 HGNC:29331 OMIM:615068	Amino acid sequence comparison (1) Conserved genome location (synteny) (1)
Mouse	Epg5	18	Ensembl:ENSMUSG00000039840 Gene:100502841 MGI:1918673	Amino acid sequence comparison (1) Conserved genome location (synteny) (1)

Citations

Include unpublished citations

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