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

    Gene ID: 57724, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See EPG5 in Genome Data Viewer
    Location:
    18q12.3-q21.1
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (45800581..45967329, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (45987904..46158285, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (43380546..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 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. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Cullup T, et al. Nat Genet, 2013 Jan. PMID 23222957, Free PMC Article
    3. Clinical utility gene card for: Vici Syndrome. Cullup T, et al. Eur J Hum Genet, 2014 Mar. PMID 23838600, Free PMC Article
    4. First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. Ehmke N, et al. Am J Med Genet A, 2014 Dec. PMID 25331754
    5. Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature. Huenerberg K, et al. Am J Med Genet A, 2016 May. PMID 26854214

    See all (43) 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
    		not available

    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 defense response to virus IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homeostasis of number of retina cells IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in host-mediated regulation of intestinal microbiota composition IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inclusion body assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in interferon-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in maintenance of protein complex location IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mucosal immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleotide transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in photoreceptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein aggregate center assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to type III interferon IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to unfolded protein IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_positive_effect toll-like receptor 9 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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_2024_08

    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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