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

    Gene ID: 57724, updated on 3-Dec-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EPG5 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001410858.1NP_001397787.1  ectopic P granules protein 5 homolog isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC087685, AC090355
      Consensus CDS
      CCDS92454.1
      UniProtKB/TrEMBL
      A0A8Q3SIJ2, A0A8Q3SJD2
      Related
      ENSP00000512657.1, ENST00000696483.1
    2. NM_001410859.1NP_001397788.1  ectopic P granules protein 5 homolog isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC087685, AC090355
      Consensus CDS
      CCDS92453.1
      UniProtKB/TrEMBL
      A0A8Q3SIU6, A0A8Q3SJD2
      Related
      ENSP00000512660.1, ENST00000696489.1
    3. NM_020964.3NP_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_047437710.1XP_047293666.1  ectopic P granules protein 5 homolog isoform X15

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    2. XM_047437706.1XP_047293662.1  ectopic P granules protein 5 homolog isoform X10

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    3. XM_047437704.1XP_047293660.1  ectopic P granules protein 5 homolog isoform X8

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    4. XM_047437703.1XP_047293659.1  ectopic P granules protein 5 homolog isoform X7

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    5. XM_047437709.1XP_047293665.1  ectopic P granules protein 5 homolog isoform X14

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    6. XM_047437707.1XP_047293663.1  ectopic P granules protein 5 homolog isoform X12

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    7. XM_047437708.1XP_047293664.1  ectopic P granules protein 5 homolog isoform X13

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    8. XM_017025891.2XP_016881380.1  ectopic P granules protein 5 homolog isoform X11

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    9. XM_047437705.1XP_047293661.1  ectopic P granules protein 5 homolog isoform X9

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    10. XM_017025889.2XP_016881378.1  ectopic P granules protein 5 homolog isoform X5

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    11. XM_011526122.2XP_011524424.1  ectopic P granules protein 5 homolog isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    12. XM_047437701.1XP_047293657.1  ectopic P granules protein 5 homolog isoform X6

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    13. XM_047437699.1XP_047293655.1  ectopic P granules protein 5 homolog isoform X2

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    14. XM_047437700.1XP_047293656.1  ectopic P granules protein 5 homolog isoform X4

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    15. XM_047437698.1XP_047293654.1  ectopic P granules protein 5 homolog isoform X1

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    16. XM_047437711.1XP_047293667.1  ectopic P granules protein 5 homolog isoform X16

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    17. XM_047437712.1XP_047293668.1  ectopic P granules protein 5 homolog isoform X17

      UniProtKB/TrEMBL
      K7EPN4
      Related
      ENSP00000467464.2, ENST00000592272.6
    18. XM_047437713.1XP_047293669.1  ectopic P granules protein 5 homolog isoform X18

      UniProtKB/TrEMBL
      K7EM87
      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_054318912.1XP_054174887.1  ectopic P granules protein 5 homolog isoform X7

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    2. XM_054318913.1XP_054174888.1  ectopic P granules protein 5 homolog isoform X8

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    3. XM_054318920.1XP_054174895.1  ectopic P granules protein 5 homolog isoform X15

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    4. XM_054318915.1XP_054174890.1  ectopic P granules protein 5 homolog isoform X10

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    5. XM_054318919.1XP_054174894.1  ectopic P granules protein 5 homolog isoform X14

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    6. XM_054318917.1XP_054174892.1  ectopic P granules protein 5 homolog isoform X12

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    7. XM_054318918.1XP_054174893.1  ectopic P granules protein 5 homolog isoform X13

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    8. XM_054318916.1XP_054174891.1  ectopic P granules protein 5 homolog isoform X11

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    9. XM_054318914.1XP_054174889.1  ectopic P granules protein 5 homolog isoform X9

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    10. XM_054318910.1XP_054174885.1  ectopic P granules protein 5 homolog isoform X5

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    11. XM_054318908.1XP_054174883.1  ectopic P granules protein 5 homolog isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    12. XM_054318911.1XP_054174886.1  ectopic P granules protein 5 homolog isoform X6

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    13. XM_054318907.1XP_054174882.1  ectopic P granules protein 5 homolog isoform X2

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    14. XM_054318909.1XP_054174884.1  ectopic P granules protein 5 homolog isoform X4

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    15. XM_054318906.1XP_054174881.1  ectopic P granules protein 5 homolog isoform X1

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    16. XM_054318921.1XP_054174896.1  ectopic P granules protein 5 homolog isoform X16

      UniProtKB/TrEMBL
      A0A8Q3SJD2
    17. XM_054318922.1XP_054174897.1  ectopic P granules protein 5 homolog isoform X17

      UniProtKB/TrEMBL
      K7EPN4
    18. XM_054318923.1XP_054174898.1  ectopic P granules protein 5 homolog isoform X18

      UniProtKB/TrEMBL
      K7EM87