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Protein

Ectopic P granules protein 5 homolog

Gene

EPG5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Autophagy

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:29331. EPG5.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs201757275dbSNPEnsembl.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.

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.
MINTiMINT-1199425.
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.
OMAiAVEFFYN.
OrthoDBiEOG091G00HO.
PhylomeDBiQ9HCE0.
TreeFamiTF313847.

Family and domain databases

InterProiIPR029651. EPG-5.
[Graphical view]
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 → E.1 PublicationCorresponds to variant rs59422275dbSNPEnsembl.1
Natural variantiVAR_069224336Q → R in VICIS. 1 PublicationCorresponds to variant rs201757275dbSNPEnsembl.1
Natural variantiVAR_035278844E → D.Corresponds to variant rs3744999dbSNPEnsembl.1
Natural variantiVAR_0352791058V → A.Corresponds to variant rs3744998dbSNPEnsembl.1
Natural variantiVAR_0352801131I → V.Corresponds to variant rs3744997dbSNPEnsembl.1
Natural variantiVAR_0365251511A → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0352811511A → V.Corresponds to variant rs1893523dbSNPEnsembl.1
Natural variantiVAR_0352821864S → N.Corresponds to variant rs34064739dbSNPEnsembl.1
Natural variantiVAR_0365261865C → Y in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0352831985R → Q.Corresponds to variant rs34674177dbSNPEnsembl.1
Natural variantiVAR_0365272056R → W in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs116076204dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9HCE0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121746. 2 interactors.
IntActiQ9HCE0. 2 interactors.
MINTiMINT-1199425.
STRINGi9606.ENSP00000282041.

PTM databases

iPTMnetiQ9HCE0.
PhosphoSitePlusiQ9HCE0.

Polymorphism and mutation databases

BioMutaiEPG5.
DMDMi158705892.

Proteomic databases

EPDiQ9HCE0.
MaxQBiQ9HCE0.
PaxDbiQ9HCE0.
PeptideAtlasiQ9HCE0.
PRIDEiQ9HCE0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi57724.
DisGeNETi57724.
GeneCardsiEPG5.
H-InvDBHIX0014424.
HGNCiHGNC:29331. EPG5.
HPAiHPA031689.
MalaCardsiEPG5.
MIMi242840. phenotype.
615068. gene.
neXtProtiNX_Q9HCE0.
OpenTargetsiENSG00000152223.
Orphaneti1493. Vici syndrome.
PharmGKBiPA134941500.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3622. Eukaryota.
ENOG410XUQ7. LUCA.
GeneTreeiENSGT00390000007354.
HOVERGENiHBG108040.
InParanoidiQ9HCE0.
OMAiAVEFFYN.
OrthoDBiEOG091G00HO.
PhylomeDBiQ9HCE0.
TreeFamiTF313847.

Miscellaneous databases

ChiTaRSiEPG5. human.
GenomeRNAii57724.
PROiQ9HCE0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152223.
CleanExiHS_KIAA1632.
ExpressionAtlasiQ9HCE0. baseline and differential.
GenevisibleiQ9HCE0. HS.

Family and domain databases

InterProiIPR029651. EPG-5.
[Graphical view]
PANTHERiPTHR31139:SF4. PTHR31139:SF4. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiEPG5_HUMAN
AccessioniPrimary (citable) accession number: Q9HCE0
Secondary accession number(s): A2BDF3, Q9H8C8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: November 2, 2016
This is version 98 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.