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

Gene ID: 57724, updated on 4-Nov-2022

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
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Genomic context

See EPG5 in Genome Data Viewer
Location:
18q12.3-q21.1
Exon count:
46
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (45800581..45967329, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (46038557..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 sialic acid binding Ig like lectin 15 Neighboring gene Sharpr-MPRA regulatory region 10800 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

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
PubMed 
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
PubMed 
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)

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

    Status: REVIEWED

    Source sequence(s)
    AC087685, AC090355
    Consensus CDS
    CCDS92454.1
    UniProtKB/TrEMBL
    A0A8Q3SIJ2
  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
  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
    Q9H8C8, Q9HCE0
    UniProtKB/TrEMBL
    Q9BTI0
    Related
    ENSP00000282041.4, ENST00000282041.11

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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 X17

  2. XM_047437706.1XP_047293662.1  ectopic P granules protein 5 homolog isoform X12

  3. XM_017025890.3XP_016881379.1  ectopic P granules protein 5 homolog isoform X11

    Related
    ENSP00000512657.1, ENST00000696483.1
  4. XM_047437704.1XP_047293660.1  ectopic P granules protein 5 homolog isoform X9

  5. XM_047437703.1XP_047293659.1  ectopic P granules protein 5 homolog isoform X8

  6. XM_047437709.1XP_047293665.1  ectopic P granules protein 5 homolog isoform X16

  7. XM_047437707.1XP_047293663.1  ectopic P granules protein 5 homolog isoform X14

  8. XM_047437708.1XP_047293664.1  ectopic P granules protein 5 homolog isoform X15

  9. XM_017025891.2XP_016881380.1  ectopic P granules protein 5 homolog isoform X13

  10. XM_047437705.1XP_047293661.1  ectopic P granules protein 5 homolog isoform X10

  11. XM_047437702.1XP_047293658.1  ectopic P granules protein 5 homolog isoform X7

    Related
    ENSP00000512660.1, ENST00000696489.1
  12. XM_017025889.2XP_016881378.1  ectopic P granules protein 5 homolog isoform X5

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

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

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

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

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

  18. XM_047437711.1XP_047293667.1  ectopic P granules protein 5 homolog isoform X18

  19. XM_047437712.1XP_047293668.1  ectopic P granules protein 5 homolog isoform X19

    Related
    ENSP00000467464.2, ENST00000592272.6
  20. XM_047437713.1XP_047293669.1  ectopic P granules protein 5 homolog isoform X20

    Related
    ENSP00000466403.2, ENST00000590884.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    46038557..46158285 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)