Seroatlas · Human Serome Atlas

EPG5

Ectopic P granules protein 5 homolog

Also known as: EPG5_HUMAN, hEPG5, KIAA1632

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9HCE0
Gene
EPG5
Ensembl
ENSG00000152223
Chromosome
18
Canonical length
2579 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear speckles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

2579 residues, UniProt reviewed canonical sequence.

>Q9HCE0|EPG5
     1  MAEAVKPQRR AKAKASRTKT KEKKKYETPQ REESSEVSLP KTSREQEIPS LACEFKGDHL
    61  KVVTDSQLQD DASGQNESEM FDVPLTSLTI SNEESLTCNT EPPKEGGEAR PCVGDSAVTP
   121  KVHPGDNVGT KVETPKNFTE VEENMSVQGG LSESAPQSNF SYTQPAMENI QVRETQNSKE
   181  DKQGLVCSSE VPQNVGLQSS CPAKHGFQTP RVKKLYPQLP AEIAGEAPAL VAVKPLLRSE
   241  RLYPELPSQL ELVPFTKEQL KILEPGSWLE NVESYLEEFD SMAHQDRHEF YELLLNYSRC
   301  RKQLLLAEAE LLTLTSDCQN AKSRLWQFKE EQMSVQGICA DQVKVFSYHR YQRVEMNENA
   361  LVELKKLFDA KSEHLHQTLA LHSYTSVLSR LQVESYIYAL LSSSAVLRSS AIHQQGRASK
   421  QTESIPSDLC QLKECISVLF MFTRRVNEDT QFHDDILLWL QKLVSVLQRV GCPGDHLFLL
   481  NHILRCPAGV SKWAVPFIQI KVLHNPSGVF HFMQSLALLM SPVKNRAEFM CHMKPSERKP
   541  SSSGPGSGTW TLVDEGGEED EDPETSWILL NEDDLVTILA QFPFHELFQH LLGFKAKGDY
   601  LPETTRPQEM MKIFAFANSL VELLAVGLET FNRARYRQFV KRIGYMIRMT LGYVSDHWAQ
   661  YVSHNQGSGL AQQPYSMEKL QVEFDELFLR AVLHVLKAKR LGIWLFMSEM PFGTLSVQML
   721  WKLFYLMHQV ESENLQQLSS SLQPAQCKQQ LQDPEHFTNF EKCLSSMNSS EEICLLTTFA
   781  QMAQARRTNV DEDFIKIIVL EIYEVSYVTL STRETFSKVG RELLGTITAV HPEIISVLLD
   841  RVQETIDQVG MVSLYLFKEL PLYLWQPSAS EIAVIRDWLL NYNLTVVKNK LACVILEGLN
   901  WGFAKQATLH LDQAVHAEVA LMVLEAYQKY LAQKPYAGIL SESMKQVSYL ASIVRYGETP
   961  ETSFNQWAWN LILRLKLHKN DYGIQPNCPA VPFSVTVPDM TESPTFHPLL KAVKAGMPIG
  1021  CYLALSMTAV GHSIEKFCAE GIPLLGILVQ SRHLRTVVHV LDKILPLFYP CQYYLLKNEQ
  1081  FLSHLLLFLH LDSGVPQGVT QQVTHKVAQH LTGASHGDNV KLLNSMIQAH ISVSTQPNEV
  1141  GPVAVLEFWV QALISQHLWY REQPILFLMD HLCKAAFQLM QEDCIQKLLY QQHKNALGYH
  1201  CDRSLLSSLV SWIVAGNITP SFVEGLATPT QVWFAWTVLN MESIFEEDSQ LRRVIEGELV
  1261  INSAFTPDQA LKKAQTQLKL PIVPSLQRLL IYRWAHQALV TPSDHPLLPL IWQKFFLLYL
  1321  HRPGPQYGLP IDGCIGRRFF QSPAHINLLK EMKRRLTEVA DFHHAASKAL RVPAEGSEGL
  1381  PESHSGTPGY LTSPELHKEL VRLFNVYILW LEDENFQKGD TYIPSLPKHY DIHRLAKVMQ
  1441  NQQDLWMEYL NMERIYHEFQ ETVGLWTQAK LESHSTPCSL SVQLDFTDPL LAKERVLSNL
  1501  RKHEAPQPPL ALHPTKPPVP VISSAVLLSQ KDATQLVCTD LNLLQQQART AALRESQQVA
  1561  LDGELLDTMP KQYVNREEQT TLHLECRGSS GKKCQGAAVV TVQFEGMHKN EAISQQLHVL
  1621  RKEVKQLQAE AAKPPSLNIV EAAVHAENLI TALVNAYKLQ PTPGIQKVGI SLFFTIVDYV
  1681  SDETQRHPPT RQFFTSCIEI LGQVFISGIK SECRKVLETI LKNSRLCSLL SPFFTPNAAP
  1741  AEFIQLYEQV VKFLSEDNSD MIFMLLTKFD LKQWLSATKP PLSDRTRLLE SIHLALTAWG
  1801  LEPDEDILMP FNLFCKHWTY LLLYQFPDQY SDILRLLMQS SAEQLLSPEC WKATLRALGC
  1861  CAPSCQQGAA STEGAVLPSS SDALLSDKQV METIQWLSDF FYKLRLSKMD FKSFGLFSKW
  1921  SPYMADVKTF LGYLVKRLID LEMTCLAQDP TASRKTVLKS LHSVIIQLFK PWILVLEDNE
  1981  SSQQRHYPWL ESDTVVASSI VQLFTDCIDS LHESFKDKLL PGDAGALWLH LMHYCEACTA
  2041  PKMPEFILYA FHSTYRKLPW KDLHPDQMLM EAFFKVERGS PKSCFLFLGS VLCEVNWVSV
  2101  LSDAWNSSPH PETRSMIVCL LFMMILLAKE VQLVDQTDSP LLSLLGQTSS LSWHLVDIVS
  2161  YQSVLSYFSS HYPPSIILAK ESYAELIMKL LKVSAGLSIP TDSQKHLDAV PKCQAFTHQM
  2221  VQFLSTLEQN GKITLAVLEQ EMSKLLDDII VFNPPDMDSQ TRHMALSSLF MEVLMMMNNA
  2281  TIPTAEFLRG SIRTWIGQKM HGLVVLPLLT AACQSLASVR HMAETTEACI TAYFKESPLN
  2341  QNSGWGPILV SLQVPELTME EFLQECLTLG SYLTLYVYLL QCLNSEQTLR NEMKVLLILS
  2401  KWLEQVYPSS VEEEAKLFLW WHQVLQLSLI QTEQNDSVLT ESVIRILLLV QSRQNLVAEE
  2461  RLSSGILGAI GFGRKSPLSN RFRVVARSMA AFLSVQVPME DQIRLRPGSE LHLTPKAQQA
  2521  LNALESMASS KQYVEYQDQI LQATQFIRHP GHCLQDGKSF LALLVNCLYP EVHYLDHIR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPG5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.32
Highest tissue expression
13 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 13 nTPM
  • thyroid gland: 6.6 nTPM
  • thymus: 5.8 nTPM
  • parathyroid gland: 5.4 nTPM
  • tonsil: 5.3 nTPM
  • heart muscle: 5.2 nTPM

Single-cell type

  • neutrophils: 288 nCPM
  • neutrophil progenitors: 165 nCPM
  • innate lymphoid cells: 132 nCPM
  • tuft cells: 115 nCPM
  • esophageal apical cells: 114 nCPM
  • nk-cells: 107 nCPM

Immune cell

  • neutrophil: 1.1 nTPM
  • MAIT T-cell: 1 nTPM
  • intermediate monocyte: 0.7 nTPM
  • memory CD8 T-cell: 0.7 nTPM
  • classical monocyte: 0.6 nTPM
  • eosinophil: 0.6 nTPM

Brain region

  • midbrain: 19 nTPM
  • white matter: 17 nTPM
  • cerebral cortex: 15 nTPM
  • basal ganglia: 15 nTPM
  • hypothalamus: 15 nTPM
  • thalamus: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPG5.

Disease | AllUniProt

Conditions EPG5 is implicated in, by any mechanism.

Disease | GeneticClinVar

214 pathogenic / likely-pathogenic of 2,669 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Vici syndrome
  • EPG5-related disorder
  • Inborn genetic diseases
  • Neurodevelopmental disorder with parkinsonism or other movement abnormalities
  • Syndromic retinitis pigmentosa

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.46
gnomAD pLI
0
gnomAD missense Z
1.08
DepMap mean gene effect
-0.13
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Autophagy-related EPG5
  • Epg5-like, TPR
  • Epg5-like, central TPR repeats
  • Epg5-like, TPR repeats
  • Epg5-like, TPR repeats

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EPG5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EPG5 as an antibody target. Whether an autoantibody or antibody against EPG5 could matter depends on whether native EPG5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EPG5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EPG5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EPG5. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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