EPG5_DROME
ID EPG5_DROME Reviewed; 2455 AA.
AC Q9VE34; Q8MT53;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-JUL-2009, sequence version 2.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Ectopic P granules protein 5 homolog {ECO:0000303|PubMed:26917586, ECO:0000312|FlyBase:FBgn0038651};
GN Name=Epg5 {ECO:0000303|PubMed:26917586, ECO:0000312|FlyBase:FBgn0038651};
GN ORFNames=CG14299 {ECO:0000312|FlyBase:FBgn0038651};
OS Drosophila melanogaster (Fruit fly).
OC Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota;
OC Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea;
OC Drosophilidae; Drosophila; Sophophora.
OX NCBI_TaxID=7227;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Berkeley;
RX PubMed=10731132; DOI=10.1126/science.287.5461.2185;
RA Adams M.D., Celniker S.E., Holt R.A., Evans C.A., Gocayne J.D.,
RA Amanatides P.G., Scherer S.E., Li P.W., Hoskins R.A., Galle R.F.,
RA George R.A., Lewis S.E., Richards S., Ashburner M., Henderson S.N.,
RA Sutton G.G., Wortman J.R., Yandell M.D., Zhang Q., Chen L.X., Brandon R.C.,
RA Rogers Y.-H.C., Blazej R.G., Champe M., Pfeiffer B.D., Wan K.H., Doyle C.,
RA Baxter E.G., Helt G., Nelson C.R., Miklos G.L.G., Abril J.F., Agbayani A.,
RA An H.-J., Andrews-Pfannkoch C., Baldwin D., Ballew R.M., Basu A.,
RA Baxendale J., Bayraktaroglu L., Beasley E.M., Beeson K.Y., Benos P.V.,
RA Berman B.P., Bhandari D., Bolshakov S., Borkova D., Botchan M.R., Bouck J.,
RA Brokstein P., Brottier P., Burtis K.C., Busam D.A., Butler H., Cadieu E.,
RA Center A., Chandra I., Cherry J.M., Cawley S., Dahlke C., Davenport L.B.,
RA Davies P., de Pablos B., Delcher A., Deng Z., Mays A.D., Dew I.,
RA Dietz S.M., Dodson K., Doup L.E., Downes M., Dugan-Rocha S., Dunkov B.C.,
RA Dunn P., Durbin K.J., Evangelista C.C., Ferraz C., Ferriera S.,
RA Fleischmann W., Fosler C., Gabrielian A.E., Garg N.S., Gelbart W.M.,
RA Glasser K., Glodek A., Gong F., Gorrell J.H., Gu Z., Guan P., Harris M.,
RA Harris N.L., Harvey D.A., Heiman T.J., Hernandez J.R., Houck J., Hostin D.,
RA Houston K.A., Howland T.J., Wei M.-H., Ibegwam C., Jalali M., Kalush F.,
RA Karpen G.H., Ke Z., Kennison J.A., Ketchum K.A., Kimmel B.E., Kodira C.D.,
RA Kraft C.L., Kravitz S., Kulp D., Lai Z., Lasko P., Lei Y., Levitsky A.A.,
RA Li J.H., Li Z., Liang Y., Lin X., Liu X., Mattei B., McIntosh T.C.,
RA McLeod M.P., McPherson D., Merkulov G., Milshina N.V., Mobarry C.,
RA Morris J., Moshrefi A., Mount S.M., Moy M., Murphy B., Murphy L.,
RA Muzny D.M., Nelson D.L., Nelson D.R., Nelson K.A., Nixon K., Nusskern D.R.,
RA Pacleb J.M., Palazzolo M., Pittman G.S., Pan S., Pollard J., Puri V.,
RA Reese M.G., Reinert K., Remington K., Saunders R.D.C., Scheeler F.,
RA Shen H., Shue B.C., Siden-Kiamos I., Simpson M., Skupski M.P., Smith T.J.,
RA Spier E., Spradling A.C., Stapleton M., Strong R., Sun E., Svirskas R.,
RA Tector C., Turner R., Venter E., Wang A.H., Wang X., Wang Z.-Y.,
RA Wassarman D.A., Weinstock G.M., Weissenbach J., Williams S.M., Woodage T.,
RA Worley K.C., Wu D., Yang S., Yao Q.A., Ye J., Yeh R.-F., Zaveri J.S.,
RA Zhan M., Zhang G., Zhao Q., Zheng L., Zheng X.H., Zhong F.N., Zhong W.,
RA Zhou X., Zhu S.C., Zhu X., Smith H.O., Gibbs R.A., Myers E.W., Rubin G.M.,
RA Venter J.C.;
RT "The genome sequence of Drosophila melanogaster.";
RL Science 287:2185-2195(2000).
RN [2]
RP GENOME REANNOTATION.
RC STRAIN=Berkeley;
RX PubMed=12537572; DOI=10.1186/gb-2002-3-12-research0083;
RA Misra S., Crosby M.A., Mungall C.J., Matthews B.B., Campbell K.S.,
RA Hradecky P., Huang Y., Kaminker J.S., Millburn G.H., Prochnik S.E.,
RA Smith C.D., Tupy J.L., Whitfield E.J., Bayraktaroglu L., Berman B.P.,
RA Bettencourt B.R., Celniker S.E., de Grey A.D.N.J., Drysdale R.A.,
RA Harris N.L., Richter J., Russo S., Schroeder A.J., Shu S.Q., Stapleton M.,
RA Yamada C., Ashburner M., Gelbart W.M., Rubin G.M., Lewis S.E.;
RT "Annotation of the Drosophila melanogaster euchromatic genome: a systematic
RT review.";
RL Genome Biol. 3:RESEARCH0083.1-RESEARCH0083.22(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
RC STRAIN=Berkeley; TISSUE=Embryo;
RX PubMed=12537569; DOI=10.1186/gb-2002-3-12-research0080;
RA Stapleton M., Carlson J.W., Brokstein P., Yu C., Champe M., George R.A.,
RA Guarin H., Kronmiller B., Pacleb J.M., Park S., Wan K.H., Rubin G.M.,
RA Celniker S.E.;
RT "A Drosophila full-length cDNA resource.";
RL Genome Biol. 3:RESEARCH0080.1-RESEARCH0080.8(2002).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-44 AND SER-467, AND
RP IDENTIFICATION BY MASS SPECTROMETRY.
RC TISSUE=Embryo;
RX PubMed=18327897; DOI=10.1021/pr700696a;
RA Zhai B., Villen J., Beausoleil S.A., Mintseris J., Gygi S.P.;
RT "Phosphoproteome analysis of Drosophila melanogaster embryos.";
RL J. Proteome Res. 7:1675-1682(2008).
RN [5]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=26917586; DOI=10.1093/brain/awv393;
RA Byrne S., Jansen L., U-King-Im J.M., Siddiqui A., Lidov H.G., Bodi I.,
RA Smith L., Mein R., Cullup T., Dionisi-Vici C., Al-Gazali L., Al-Owain M.,
RA Bruwer Z., Al Thihli K., El-Garhy R., Flanigan K.M., Manickam K., Zmuda E.,
RA Banks W., Gershoni-Baruch R., Mandel H., Dagan E., Raas-Rothschild A.,
RA Barash H., Filloux F., Creel D., Harris M., Hamosh A., Koelker S.,
RA Ebrahimi-Fakhari D., Hoffmann G.F., Manchester D., Boyer P.J., Manzur A.Y.,
RA Lourenco C.M., Pilz D.T., Kamath A., Prabhakar P., Rao V.K., Rogers R.C.,
RA Ryan M.M., Brown N.J., McLean C.A., Said E., Schara U., Stein A., Sewry C.,
RA Travan L., Wijburg F.A., Zenker M., Mohammed S., Fanto M., Gautel M.,
RA Jungbluth H.;
RT "EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders
RT with defective autophagy.";
RL Brain 139:765-781(2016).
CC -!- FUNCTION: Involved in autophagy. Plays a role in late steps of
CC autophagy. {ECO:0000269|PubMed:26917586}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, perinuclear region
CC {ECO:0000250|UniProtKB:Q9HCE0}. Lysosome
CC {ECO:0000250|UniProtKB:Q9HCE0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=C;
CC IsoId=Q9VE34-1; Sequence=Displayed;
CC Name=B;
CC IsoId=Q9VE34-2; Sequence=VSP_028436, VSP_028437;
CC -!- DISRUPTION PHENOTYPE: Conditional CG14299 knockdown in fly larval fat
CC bodies causes defects in the late steps of autophagy and a block in
CC digestion of autolysosomes. Conditional down-regulation in adult fly
CC retina reveals an incremental loss of neurons and of retina structure
CC over time. {ECO:0000269|PubMed:26917586}.
CC -!- SIMILARITY: Belongs to the EPG5 family. {ECO:0000305}.
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DR EMBL; AE014297; AAF55595.2; -; Genomic_DNA.
DR EMBL; AE014297; AAX52966.1; -; Genomic_DNA.
DR EMBL; AY118376; AAM48405.1; -; mRNA.
DR RefSeq; NP_650752.2; NM_142495.4. [Q9VE34-1]
DR AlphaFoldDB; Q9VE34; -.
DR BioGRID; 67261; 1.
DR IntAct; Q9VE34; 3.
DR STRING; 7227.FBpp0271890; -.
DR iPTMnet; Q9VE34; -.
DR PaxDb; Q9VE34; -.
DR PRIDE; Q9VE34; -.
DR EnsemblMetazoa; FBtr0273382; FBpp0271890; FBgn0038651. [Q9VE34-1]
DR GeneID; 42256; -.
DR KEGG; dme:Dmel_CG14299; -.
DR UCSC; CG14299-RB; d. melanogaster. [Q9VE34-1]
DR CTD; 57724; -.
DR FlyBase; FBgn0038651; Epg5.
DR VEuPathDB; VectorBase:FBgn0038651; -.
DR eggNOG; KOG3622; Eukaryota.
DR GeneTree; ENSGT00390000007354; -.
DR HOGENOM; CLU_000773_0_0_1; -.
DR InParanoid; Q9VE34; -.
DR OMA; EHFLPMY; -.
DR PhylomeDB; Q9VE34; -.
DR BioGRID-ORCS; 42256; 0 hits in 1 CRISPR screen.
DR GenomeRNAi; 42256; -.
DR PRO; PR:Q9VE34; -.
DR Proteomes; UP000000803; Chromosome 3R.
DR Bgee; FBgn0038651; Expressed in embryonic/larval hemocyte (Drosophila) and 26 other tissues.
DR ExpressionAtlas; Q9VE34; baseline and differential.
DR Genevisible; Q9VE34; DM.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005764; C:lysosome; IEA:UniProtKB-SubCell.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0097352; P:autophagosome maturation; IBA:GO_Central.
DR GO; GO:0006914; P:autophagy; IMP:FlyBase.
DR InterPro; IPR029651; EPG-5.
DR PANTHER; PTHR31139:SF4; PTHR31139:SF4; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Autophagy; Cytoplasm; Lysosome; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..2455
FT /note="Ectopic P granules protein 5 homolog"
FT /id="PRO_0000306259"
FT REGION 1..42
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 77..105
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..27
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 44
FT /note="Phosphoserine"
FT /evidence="ECO:0000269|PubMed:18327897"
FT MOD_RES 467
FT /note="Phosphoserine"
FT /evidence="ECO:0000269|PubMed:18327897"
FT VAR_SEQ 1030..1041
FT /note="SYGLCSPLNLLN -> RMVPELQFIVSP (in isoform B)"
FT /evidence="ECO:0000303|PubMed:12537569"
FT /id="VSP_028436"
FT VAR_SEQ 1042..2455
FT /note="Missing (in isoform B)"
FT /evidence="ECO:0000303|PubMed:12537569"
FT /id="VSP_028437"
SQ SEQUENCE 2455 AA; 280692 MW; 0830DDF17168D7D4 CRC64;
MATLEKPKKE KSKKSRNRVP IEKEEEEPAE LSTSEEQRPA ENVSLLEEFE RVATLASSSS
GEAIISHECC ISSDVGVTSQ EPEGTQEPTE TEAQPSAPSA PPSTTVHVVQ YPNLQPMQLS
NAQVEEHSAK IVYRQAESPT GFALARSHIK LLSTEELRQI YDCPELELAK QFELEFLMNS
LLETSEADPL YAAVMEYYEL QGKITSNLHD VEKLRKGCAE SQKQIWVRQP VTRTFSGTCG
DGNVVQECVT YDVIQVDPIK LEVAKTSLTG LYDLVCHAYT NNSITAKITK VKVDQIINDL
LTYPNLDGHS VVSLHHTQSG EALQCVSQLR RAISILFSFV RRPSPNANFD KDLKEWLRKL
IALQLLLATR EDHWFLLFNI LRCPNGVGSW AAQFLQLPGT RAVRRGSQQN ELPLDLNSPE
LNHCMAVLQI LLMPVKKRNE YLKSQAQAHR ELSDTPGATD RWIVVDSDGE DSHTPAGECV
GLKESDLVAL LNQMPFEKIF TSALRIEKFL DDYIIEPDMI TAQQMLAVVV FFSQLVKTIG
EGLLTYNNER YKQLAKRLGR LVRHTLQYVF DYNELFINNN LYKSSEMYER IQVELQALLV
RACGYIYRTR NLGTWQYFST LPFGTLDAEV IWHLFYYLNV GFPTDLANDL VSNAEAAFQA
EDFWRKFDLA NADVAPEDMY YLLQTFFEMA NERNRSKDGS LVKAICLHIF HIGYIHKSTR
EICYKTARDM LANLMDEDLF GCVLVQLKMR YGEVDQAAYL FKALPLENWH PSMDTFEVLS
NWLLHFDYQS SESQLARLII SHLNWGLDCE GRLFLPHNIH VRMAHLVNEA LNKYAPEVIG
ASGISESVRQ VSSLIDSTQS SREQFTNWCW RMVSVLRLHL MDQGVESVRR TLQHPTEPLL
FIPELERMEM IFQGVNENRP LALYVGMLVS LHGHSIPLIC QHGFILLQQL LLDHRHAATI
RCLELIVPLF LETPETLANC ESFQRLITTL LNADRTYLKL AKDMVYANSI GPILELLDNM
LHHQIISYTS YGLCSPLNLL NIWLNCFTTL PGWSQNSNLL YLLDRMLRIS YQFPDCRAQA
VEFFYNYYKD CTEWKSAPKG SALKAFFGGQ SVSRIPLISP QNCWLNLVIL EIEFRLVDTR
IFPELLRQIS AQPVEAALKK TISLSKTSAF PASQLVIFKY AQLLASMEST HALFPIVCQK
FFELYLWRVP TENESLNFSH NFGVSDKFYE YNVPLMKSIK SQLKSAESYY SALATKNAND
DAMAHFYRNC CKLMQNCALW LEDTQINRFT SDAEHLPAQY NSEKLRELLS GHVNHWTEFL
CLASLRKEQR HQADQWGRKV MRLSNQKAPR TPVQPKQRQP PAQHIKSLLK SYEKIVENPL
HIRVEPIKTP PIDGVIVAQI QKKMTTLNST ANNYHYKTSE LNSLDLNYLE RVPTLYSMIP
YEETRRKECT SLLFKRNCTA PAQIKLTPEH IRINDVISRK QAQNRERHDK IIEDILLAMS
VESFAQAIEE LGVCIGALLV APLESSVTQI GVRVFYDIVD NLNEVTMKFQ PTHDLYFQVL
EKLGVFLEAD QAAQGLAILR LALKRPDLLE LLAGVFVPSR TDVDHFLSMY EFLIDSHLKH
CDTQTLFVLF SKFDLLGWME AYQPKLSEIN RLLLLVLQGL EAWSQPDSSL LQDLFRRHLV
HIFGYDFPQH YGEVMQLVLD RTSDQKLMPV VLLDLLNALF VRSNCAELSL QQSEVRVHEL
ALDFARRQKL FTLKAATDTL LLLSRHFQKE RLHHGLHGLY PKHKDYCQAL VLWFTSFGHT
LLASAICSYQ ELLADQISDI VFGSIVETYS PWLIPYTEET VSGVAHWIRQ LTPGQSKVLL
PWSEQHVSSC KLMIRSFVAT IIQVLQYLPS SNKILEHVFA WYVHHFAQSS TTGHVLAPIH
EGLAQLPWER FLPPAQHVEL LYDSLQKFLP ESHAMLGHIF IRIEWNNWFA QMPQPVSILS
RLFTIFVKIA FEPNIHIHPN TSKILEDAIR YPWHLVECSE LEQLLKWFVA SVEPAIALKI
PAESNYADRA VLELLRLACA MLPERSAQDA VVLGTAKRML YTRSMVRMQR ACGAKHQKLL
ATKEGERAFS NAFLELLDSI DGAISSCSEH RTMEEQRREA LNLMLELVAP TQTQSQEVSN
IHIKALVWWQ QRCSPGNLVM CSTLPAIGHL NTYIASIYSL LEASIENYFR TSPEIASWHA
PSWQGLMEAL SMSLPKLDLM PIMQGSYFFS LHVFVLYKME EIATDGDKVT FLQDLSQLLE
NLKTSPQTEP RMALVWGVII ARGCQIAQVN QQVKKPLHML ARHLQIASTK AEGWGDGLLG
VIGLKSEVIT NRRKVLTRCL ACVIFSLFPA NRDLRIPSEE YESALRELSM LLANKKFTDI
KPLIVRAVSL LKESTFPDIR AVPHMVCRLI SIFYEESYLT TIPEVWDFEF KLMAT
