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UniProtKB - Q9HCE0 (EPG5_HUMAN)

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Protein

Ectopic P granules protein 5 homolog

Gene

EPG5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo.2 Publications

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processAutophagy

Names & Taxonomyi

Protein namesi
Recommended name:
Ectopic P granules protein 5 homolog
Gene namesi
Name:EPG5
Synonyms:KIAA1632
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000152223.12
HGNCiHGNC:29331 EPG5
MIMi615068 gene
neXtProtiNX_Q9HCE0

Subcellular locationi

Pathology & Biotechi

Involvement in diseasei

Vici syndrome (VICIS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Affected individuals show homozygosity or compound heterozygosity for truncating mutations, aberrant splicing and/or missense mutations. Parental studies suggest recessive inheritance with no carrier manifestation (PubMed:23222957).1 Publication
Disease descriptionA rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy.
See also OMIM:242840
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069224336Q → R in VICIS. 1 PublicationCorresponds to variant dbSNP:rs201757275EnsemblClinVar.1

Keywords - Diseasei

Cataract

Organism-specific databases

DisGeNETi57724
MalaCardsiEPG5
MIMi242840 phenotype
OpenTargetsiENSG00000152223
Orphaneti1493 Vici syndrome
PharmGKBiPA134941500

Polymorphism and mutation databases

BioMutaiEPG5
DMDMi158705892

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003062551 – 2579Ectopic P granules protein 5 homologAdd BLAST2579

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei134PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9HCE0
MaxQBiQ9HCE0
PaxDbiQ9HCE0
PeptideAtlasiQ9HCE0
PRIDEiQ9HCE0
ProteomicsDBi81681
81682 [Q9HCE0-2]

PTM databases

iPTMnetiQ9HCE0
PhosphoSitePlusiQ9HCE0

Expressioni

Gene expression databases

BgeeiENSG00000152223
CleanExiHS_KIAA1632
ExpressionAtlasiQ9HCE0 baseline and differential
GenevisibleiQ9HCE0 HS

Organism-specific databases

HPAiHPA031689

Interactioni

Protein-protein interaction databases

BioGridi121746, 2 interactors
IntActiQ9HCE0, 2 interactors
MINTiQ9HCE0
STRINGi9606.ENSP00000282041

Structurei

3D structure databases

ProteinModelPortaliQ9HCE0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1607 – 1633Sequence analysisAdd BLAST27

Sequence similaritiesi

Belongs to the EPG5 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3622 Eukaryota
ENOG410XUQ7 LUCA
GeneTreeiENSGT00390000007354
HOVERGENiHBG108040
InParanoidiQ9HCE0
OMAiPWILVLE
OrthoDBiEOG091G00HO
PhylomeDBiQ9HCE0
TreeFamiTF313847

Family and domain databases

InterProiView protein in InterPro
IPR029651 EPG-5
PANTHERiPTHR31139:SF4 PTHR31139:SF4, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9HCE0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAEAVKPQRR AKAKASRTKT KEKKKYETPQ REESSEVSLP KTSREQEIPS 
        60         70         80         90        100
LACEFKGDHL KVVTDSQLQD DASGQNESEM FDVPLTSLTI SNEESLTCNT 
       110        120        130        140        150
EPPKEGGEAR PCVGDSAVTP KVHPGDNVGT KVETPKNFTE VEENMSVQGG 
       160        170        180        190        200
LSESAPQSNF SYTQPAMENI QVRETQNSKE DKQGLVCSSE VPQNVGLQSS 
       210        220        230        240        250
CPAKHGFQTP RVKKLYPQLP AEIAGEAPAL VAVKPLLRSE RLYPELPSQL 
       260        270        280        290        300
ELVPFTKEQL KILEPGSWLE NVESYLEEFD SMAHQDRHEF YELLLNYSRC 
       310        320        330        340        350
RKQLLLAEAE LLTLTSDCQN AKSRLWQFKE EQMSVQGICA DQVKVFSYHR 
       360        370        380        390        400
YQRVEMNENA LVELKKLFDA KSEHLHQTLA LHSYTSVLSR LQVESYIYAL 
       410        420        430        440        450
LSSSAVLRSS AIHQQGRASK QTESIPSDLC QLKECISVLF MFTRRVNEDT 
       460        470        480        490        500
QFHDDILLWL QKLVSVLQRV GCPGDHLFLL NHILRCPAGV SKWAVPFIQI 
       510        520        530        540        550
KVLHNPSGVF HFMQSLALLM SPVKNRAEFM CHMKPSERKP SSSGPGSGTW 
       560        570        580        590        600
TLVDEGGEED EDPETSWILL NEDDLVTILA QFPFHELFQH LLGFKAKGDY 
       610        620        630        640        650
LPETTRPQEM MKIFAFANSL VELLAVGLET FNRARYRQFV KRIGYMIRMT 
       660        670        680        690        700
LGYVSDHWAQ YVSHNQGSGL AQQPYSMEKL QVEFDELFLR AVLHVLKAKR 
       710        720        730        740        750
LGIWLFMSEM PFGTLSVQML WKLFYLMHQV ESENLQQLSS SLQPAQCKQQ 
       760        770        780        790        800
LQDPEHFTNF EKCLSSMNSS EEICLLTTFA QMAQARRTNV DEDFIKIIVL 
       810        820        830        840        850
EIYEVSYVTL STRETFSKVG RELLGTITAV HPEIISVLLD RVQETIDQVG 
       860        870        880        890        900
MVSLYLFKEL PLYLWQPSAS EIAVIRDWLL NYNLTVVKNK LACVILEGLN 
       910        920        930        940        950
WGFAKQATLH LDQAVHAEVA LMVLEAYQKY LAQKPYAGIL SESMKQVSYL 
       960        970        980        990       1000
ASIVRYGETP ETSFNQWAWN LILRLKLHKN DYGIQPNCPA VPFSVTVPDM 
      1010       1020       1030       1040       1050
TESPTFHPLL KAVKAGMPIG CYLALSMTAV GHSIEKFCAE GIPLLGILVQ 
      1060       1070       1080       1090       1100
SRHLRTVVHV LDKILPLFYP CQYYLLKNEQ FLSHLLLFLH LDSGVPQGVT 
      1110       1120       1130       1140       1150
QQVTHKVAQH LTGASHGDNV KLLNSMIQAH ISVSTQPNEV GPVAVLEFWV 
      1160       1170       1180       1190       1200
QALISQHLWY REQPILFLMD HLCKAAFQLM QEDCIQKLLY QQHKNALGYH 
      1210       1220       1230       1240       1250
CDRSLLSSLV SWIVAGNITP SFVEGLATPT QVWFAWTVLN MESIFEEDSQ 
      1260       1270       1280       1290       1300
LRRVIEGELV INSAFTPDQA LKKAQTQLKL PIVPSLQRLL IYRWAHQALV 
      1310       1320       1330       1340       1350
TPSDHPLLPL IWQKFFLLYL HRPGPQYGLP IDGCIGRRFF QSPAHINLLK 
      1360       1370       1380       1390       1400
EMKRRLTEVA DFHHAASKAL RVPAEGSEGL PESHSGTPGY LTSPELHKEL 
      1410       1420       1430       1440       1450
VRLFNVYILW LEDENFQKGD TYIPSLPKHY DIHRLAKVMQ NQQDLWMEYL 
      1460       1470       1480       1490       1500
NMERIYHEFQ ETVGLWTQAK LESHSTPCSL SVQLDFTDPL LAKERVLSNL 
      1510       1520       1530       1540       1550
RKHEAPQPPL ALHPTKPPVP VISSAVLLSQ KDATQLVCTD LNLLQQQART 
      1560       1570       1580       1590       1600
AALRESQQVA LDGELLDTMP KQYVNREEQT TLHLECRGSS GKKCQGAAVV 
      1610       1620       1630       1640       1650
TVQFEGMHKN EAISQQLHVL RKEVKQLQAE AAKPPSLNIV EAAVHAENLI 
      1660       1670       1680       1690       1700
TALVNAYKLQ PTPGIQKVGI SLFFTIVDYV SDETQRHPPT RQFFTSCIEI 
      1710       1720       1730       1740       1750
LGQVFISGIK SECRKVLETI LKNSRLCSLL SPFFTPNAAP AEFIQLYEQV 
      1760       1770       1780       1790       1800
VKFLSEDNSD MIFMLLTKFD LKQWLSATKP PLSDRTRLLE SIHLALTAWG 
      1810       1820       1830       1840       1850
LEPDEDILMP FNLFCKHWTY LLLYQFPDQY SDILRLLMQS SAEQLLSPEC 
      1860       1870       1880       1890       1900
WKATLRALGC CAPSCQQGAA STEGAVLPSS SDALLSDKQV METIQWLSDF 
      1910       1920       1930       1940       1950
FYKLRLSKMD FKSFGLFSKW SPYMADVKTF LGYLVKRLID LEMTCLAQDP 
      1960       1970       1980       1990       2000
TASRKTVLKS LHSVIIQLFK PWILVLEDNE SSQQRHYPWL ESDTVVASSI 
      2010       2020       2030       2040       2050
VQLFTDCIDS LHESFKDKLL PGDAGALWLH LMHYCEACTA PKMPEFILYA 
      2060       2070       2080       2090       2100
FHSTYRKLPW KDLHPDQMLM EAFFKVERGS PKSCFLFLGS VLCEVNWVSV 
      2110       2120       2130       2140       2150
LSDAWNSSPH PETRSMIVCL LFMMILLAKE VQLVDQTDSP LLSLLGQTSS 
      2160       2170       2180       2190       2200
LSWHLVDIVS YQSVLSYFSS HYPPSIILAK ESYAELIMKL LKVSAGLSIP 
      2210       2220       2230       2240       2250
TDSQKHLDAV PKCQAFTHQM VQFLSTLEQN GKITLAVLEQ EMSKLLDDII 
      2260       2270       2280       2290       2300
VFNPPDMDSQ TRHMALSSLF MEVLMMMNNA TIPTAEFLRG SIRTWIGQKM 
      2310       2320       2330       2340       2350
HGLVVLPLLT AACQSLASVR HMAETTEACI TAYFKESPLN QNSGWGPILV 
      2360       2370       2380       2390       2400
SLQVPELTME EFLQECLTLG SYLTLYVYLL QCLNSEQTLR NEMKVLLILS 
      2410       2420       2430       2440       2450
KWLEQVYPSS VEEEAKLFLW WHQVLQLSLI QTEQNDSVLT ESVIRILLLV 
      2460       2470       2480       2490       2500
QSRQNLVAEE RLSSGILGAI GFGRKSPLSN RFRVVARSMA AFLSVQVPME 
      2510       2520       2530       2540       2550
DQIRLRPGSE LHLTPKAQQA LNALESMASS KQYVEYQDQI LQATQFIRHP 
      2560       2570 
GHCLQDGKSF LALLVNCLYP EVHYLDHIR
Length:2,579
Mass (Da):292,481
Last modified:October 2, 2007 - v2
Checksum:iBE1179F6D4A1C6AB
GO
Isoform 2 (identifier: Q9HCE0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2482-2579: Missing.

Show »
Length:2,481
Mass (Da):281,291
Checksum:i6750A13A5CDBBBA3
GO

Sequence cautioni

The sequence BAB13458 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB14689 differs from that shown. Reason: Erroneous termination at position 1159. Translated as Trp.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1201C → R in BAB14689 (PubMed:14702039).Curated1
Sequence conflicti1369A → V in BAB14689 (PubMed:14702039).Curated1
Sequence conflicti1444 – 1446DLW → VKL in BAB13458 (PubMed:10997877).Curated3
Sequence conflicti1711S → T in BAB14689 (PubMed:14702039).Curated1
Sequence conflicti2295W → S in BAB14689 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062210182K → E1 PublicationCorresponds to variant dbSNP:rs59422275EnsemblClinVar.1
Natural variantiVAR_069224336Q → R in VICIS. 1 PublicationCorresponds to variant dbSNP:rs201757275EnsemblClinVar.1
Natural variantiVAR_035278844E → D. Corresponds to variant dbSNP:rs3744999Ensembl.1
Natural variantiVAR_0352791058V → A. Corresponds to variant dbSNP:rs3744998EnsemblClinVar.1
Natural variantiVAR_0352801131I → V. Corresponds to variant dbSNP:rs3744997EnsemblClinVar.1
Natural variantiVAR_0365251511A → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0352811511A → V. Corresponds to variant dbSNP:rs1893523Ensembl.1
Natural variantiVAR_0352821864S → N. Corresponds to variant dbSNP:rs34064739EnsemblClinVar.1
Natural variantiVAR_0365261865C → Y in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0352831985R → Q. Corresponds to variant dbSNP:rs34674177EnsemblClinVar.1
Natural variantiVAR_0365272056R → W in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs116076204EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0284352482 – 2579Missing in isoform 2. 2 PublicationsAdd BLAST98

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC087685 Genomic DNA No translation available.
AC090355 Genomic DNA No translation available.
AB046852 mRNA Translation: BAB13458.1 Different initiation.
AK023817 mRNA Translation: BAB14689.1 Sequence problems.
BC130614 mRNA Translation: AAI30615.1
CCDSiCCDS11926.2 [Q9HCE0-1]
RefSeqiNP_066015.2, NM_020964.2 [Q9HCE0-1]
UniGeneiHs.514843

Genome annotation databases

EnsembliENST00000282041; ENSP00000282041; ENSG00000152223 [Q9HCE0-1]
GeneIDi57724
KEGGihsa:57724
UCSCiuc002lbm.4 human [Q9HCE0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEPG5_HUMAN
AccessioniPrimary (citable) accession number: Q9HCE0
Secondary accession number(s): A2BDF3, Q9H8C8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: June 20, 2018
This is version 105 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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