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EPG5 ectopic P-granules 5 autophagy tethering factor [ Homo sapiens (human) ]

Gene ID: 57724, updated on 3-Apr-2024

Summary

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Official Symbol
EPG5provided by HGNC
Official Full Name
ectopic P-granules 5 autophagy tethering factorprovided by HGNC
Primary source
HGNC:HGNC:29331
See related
Ensembl:ENSG00000152223 MIM:615068; AllianceGenome:HGNC:29331
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEEW1; VICIS; KIAA1632
Summary
This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]
Expression
Ubiquitous expression in bone marrow (RPKM 5.1), thyroid (RPKM 4.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
18q12.3-q21.1
Exon count:
46
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (45800581..45967329, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (45987904..46158285, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (43427574..43547295, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372093 Neighboring gene uncharacterized LOC105372092 Neighboring gene solute carrier family 14 member 1 (Kidd blood group) Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43386185-43386686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43408730-43409428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43418307-43418808 Neighboring gene sialic acid binding Ig like lectin 15 Neighboring gene Sharpr-MPRA regulatory region 10800 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:43478156-43479355 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:43530707-43531906 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43547054-43547555 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43557301-43557872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13264 Neighboring gene RN7SK pseudogene 26 Neighboring gene proline-serine-threonine phosphatase interacting protein 2 Neighboring gene UTP18, small subunit (SSU) processome component, homolog (yeast) pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant. Vansenne F, et al. Eur J Paediatr Neurol, 2022 Nov. PMID 36410285
  2. EPG5-Related Disorder. Adam MP, et al. , 1993. PMID 36228046
  3. Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate. Rafei MA, et al. Ophthalmic Genet, 2021 Dec. PMID 34264147
  4. Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5. Nam SE, et al. Commun Biol, 2021 Mar 5. PMID 33674710, Free PMC Article
  5. EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome. Vojcek E, et al. Ann Hum Genet, 2020 Jan. PMID 31184778

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.
    Title: Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.
  2. Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5.
    Title: Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5.
  3. Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate.
    Title: Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate.
  4. Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5.
    Title: Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5.
  5. EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome.
    Title: EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome.
  6. C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer.
    Title: C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer.
  7. we successfully identified novel compound heterozygous mutations in EPG5 in a patient who was clinically considered to have Vici syndrome.
    Title: Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.
  8. To investigate the function of EPG5, siRNA based EPG5 knock-down, and CRISPR/Cas9 mediated EPG5 knock-out HeLa cells were generated. EPG5-depleted cells exhibited a complete block of autophagic flux caused by defective autophagosome-lysosome fusion.
    Title: Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
  9. these findings indicate that EPG5, by controlling nucleic acids intracellular trafficking, links macroautophagy/autophagy to innate and adaptive immunity.
    Title: The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.
  10. this is a report of a novel EPG5 mutation in a 21 week fetus and its sibling affected with Vici syndrome. This is the second report of brain histology in Vici syndrome in the prenatal period, at earliest reported gestation till date; with previously unreported finding of focal cortical microdysgenesis, thereby expanding the spectrum of disordered cortical development in this syndrome
    Title: Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Vici syndrome
MedGen: C1855772 OMIM: 242840 GeneReviews: EPG5-Related Disorder
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1632, DKFZp667P2311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in autophagosome maturation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to dsDNA IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endocytic recycling IEA
Inferred from Electronic Annotation
more info
  
involved_in endosome to lysosome transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nucleotide transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_positive_effect toll-like receptor 9 signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ectopic P granules protein 5 homolog
Names
ectopic P-granules autophagy 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.

Genomic

  1. NG_042838.1 RefSeqGene

    Range
    5011..124731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1234

mRNA and Protein(s)

  1. NM_001410858.1 → NP_001397787.1  ectopic P granules protein 5 homolog isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC087685, AC090355
    Consensus CDS
    CCDS92454.1
    UniProtKB/TrEMBL
    A0A8Q3SIJ2
    Related
    ENSP00000512657.1, ENST00000696483.1

  2. NM_001410859.1 → NP_001397788.1  ectopic P granules protein 5 homolog isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC087685, AC090355
    Consensus CDS
    CCDS92453.1
    UniProtKB/TrEMBL
    A0A8Q3SIU6
    Related
    ENSP00000512660.1, ENST00000696489.1

  3. NM_020964.3 → NP_066015.2  ectopic P granules protein 5 homolog isoform 1

    See identical proteins and their annotated locations for NP_066015.2

    Status: REVIEWED

    Source sequence(s)
    AB046852, AC087685, AC090355, AK023817, BC003695, BM680107, DB065073, DB235183
    Consensus CDS
    CCDS11926.2
    UniProtKB/Swiss-Prot
    A2BDF3, Q9H8C8, Q9HCE0
    UniProtKB/TrEMBL
    A0A8Q3SJD2
    Related
    ENSP00000282041.4, ENST00000282041.11

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    45800581..45967329 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437710.1 → XP_047293666.1  ectopic P granules protein 5 homolog isoform X15

  2. XM_047437706.1 → XP_047293662.1  ectopic P granules protein 5 homolog isoform X10

  3. XM_047437704.1 → XP_047293660.1  ectopic P granules protein 5 homolog isoform X8

  4. XM_047437703.1 → XP_047293659.1  ectopic P granules protein 5 homolog isoform X7

  5. XM_047437709.1 → XP_047293665.1  ectopic P granules protein 5 homolog isoform X14

  6. XM_047437707.1 → XP_047293663.1  ectopic P granules protein 5 homolog isoform X12

  7. XM_047437708.1 → XP_047293664.1  ectopic P granules protein 5 homolog isoform X13

  8. XM_017025891.2 → XP_016881380.1  ectopic P granules protein 5 homolog isoform X11

    UniProtKB/TrEMBL
    A0A8Q3SJD2

  9. XM_047437705.1 → XP_047293661.1  ectopic P granules protein 5 homolog isoform X9

  10. XM_017025889.2 → XP_016881378.1  ectopic P granules protein 5 homolog isoform X5

    UniProtKB/TrEMBL
    A0A8Q3SJD2

  11. XM_011526122.2 → XP_011524424.1  ectopic P granules protein 5 homolog isoform X3

    UniProtKB/TrEMBL
    A0A8Q3SJD2

  12. XM_047437701.1 → XP_047293657.1  ectopic P granules protein 5 homolog isoform X6

  13. XM_047437699.1 → XP_047293655.1  ectopic P granules protein 5 homolog isoform X2

  14. XM_047437700.1 → XP_047293656.1  ectopic P granules protein 5 homolog isoform X4

  15. XM_047437698.1 → XP_047293654.1  ectopic P granules protein 5 homolog isoform X1

  16. XM_047437711.1 → XP_047293667.1  ectopic P granules protein 5 homolog isoform X16

  17. XM_047437712.1 → XP_047293668.1  ectopic P granules protein 5 homolog isoform X17

    Related
    ENSP00000467464.2, ENST00000592272.6

  18. XM_047437713.1 → XP_047293669.1  ectopic P granules protein 5 homolog isoform X18

    Related
    ENSP00000466403.2, ENST00000590884.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    45987904..46158285 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318912.1 → XP_054174887.1  ectopic P granules protein 5 homolog isoform X7

  2. XM_054318913.1 → XP_054174888.1  ectopic P granules protein 5 homolog isoform X8

  3. XM_054318920.1 → XP_054174895.1  ectopic P granules protein 5 homolog isoform X15

  4. XM_054318915.1 → XP_054174890.1  ectopic P granules protein 5 homolog isoform X10

  5. XM_054318919.1 → XP_054174894.1  ectopic P granules protein 5 homolog isoform X14

  6. XM_054318917.1 → XP_054174892.1  ectopic P granules protein 5 homolog isoform X12

  7. XM_054318918.1 → XP_054174893.1  ectopic P granules protein 5 homolog isoform X13

  8. XM_054318916.1 → XP_054174891.1  ectopic P granules protein 5 homolog isoform X11

  9. XM_054318914.1 → XP_054174889.1  ectopic P granules protein 5 homolog isoform X9

  10. XM_054318910.1 → XP_054174885.1  ectopic P granules protein 5 homolog isoform X5

  11. XM_054318908.1 → XP_054174883.1  ectopic P granules protein 5 homolog isoform X3

  12. XM_054318911.1 → XP_054174886.1  ectopic P granules protein 5 homolog isoform X6

  13. XM_054318907.1 → XP_054174882.1  ectopic P granules protein 5 homolog isoform X2

  14. XM_054318909.1 → XP_054174884.1  ectopic P granules protein 5 homolog isoform X4

  15. XM_054318906.1 → XP_054174881.1  ectopic P granules protein 5 homolog isoform X1

  16. XM_054318921.1 → XP_054174896.1  ectopic P granules protein 5 homolog isoform X16

  17. XM_054318922.1 → XP_054174897.1  ectopic P granules protein 5 homolog isoform X17

  18. XM_054318923.1 → XP_054174898.1  ectopic P granules protein 5 homolog isoform X18

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HCE0.2 GenPept UniProtKB/Swiss-Prot:Q9HCE0

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