NU188_DROME
ID NU188_DROME Reviewed; 1866 AA.
AC A0A0B4K859; A1Z945;
DT 02-DEC-2020, integrated into UniProtKB/Swiss-Prot.
DT 01-APR-2015, sequence version 1.
DT 03-AUG-2022, entry version 52.
DE RecName: Full=Nucleoporin Nup188 {ECO:0000303|PubMed:32275884};
DE AltName: Full=Nucleoporin 188kDa {ECO:0000312|FlyBase:FBgn0033766};
GN Name=Nup188 {ECO:0000303|PubMed:32275884, ECO:0000312|FlyBase:FBgn0033766};
GN ORFNames=CG8771 {ECO:0000312|FlyBase:FBgn0033766};
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 {ECO:0000312|Proteomes:UP000000803};
RN [1] {ECO:0000312|Proteomes:UP000000803}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Berkeley {ECO:0000312|Proteomes:UP000000803};
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] {ECO:0000312|Proteomes:UP000000803}
RP GENOME REANNOTATION.
RC STRAIN=Berkeley {ECO:0000312|Proteomes:UP000000803};
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] {ECO:0000305}
RP DISRUPTION PHENOTYPE.
RX PubMed=32275884; DOI=10.1016/j.ajhg.2020.03.009;
RA Muir A.M., Cohen J.L., Sheppard S.E., Guttipatti P., Lo T.Y., Weed N.,
RA Doherty D., DeMarzo D., Fagerberg C.R., Kjaersgaard L., Larsen M.J.,
RA Rump P., Loehner K., Hirsch Y., Zeevi D.A., Zackai E.H., Bhoj E., Song Y.,
RA Mefford H.C.;
RT "Bi-allelic loss-of-function variants in NUP188 cause a recognizable
RT syndrome characterized by neurologic, ocular, and cardiac abnormalities.";
RL Am. J. Hum. Genet. 106:623-631(2020).
CC -!- FUNCTION: Component of the nuclear pore complex (NPC), a complex
CC required for the trafficking across the nuclear envelope. Required for
CC proper protein transport into the nucleus.
CC {ECO:0000250|UniProtKB:Q5SRE5}.
CC -!- SUBUNIT: Part of the nuclear pore complex (NPC).
CC {ECO:0000250|UniProtKB:Q5SRE5}.
CC -!- SUBCELLULAR LOCATION: Nucleus, nuclear pore complex
CC {ECO:0000250|UniProtKB:Q5SRE5}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=C {ECO:0000312|FlyBase:FBgn0033766};
CC IsoId=A0A0B4K859-1; Sequence=Displayed;
CC Name=B {ECO:0000312|FlyBase:FBgn0033766};
CC IsoId=A0A0B4K859-2; Sequence=VSP_060803;
CC -!- DISRUPTION PHENOTYPE: Lethal at the pupal stage with stronger phenotype
CC with temperature increase (PubMed:32275884). Impairs sensory dendrite
CC tiling on the larval body (PubMed:32275884). In escapers flies, leads
CC to decreased negative geotaxis and seizures (PubMed:32275884).
CC {ECO:0000269|PubMed:32275884}.
CC -!- SIMILARITY: Belongs to the Nup188 family. {ECO:0000305}.
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DR EMBL; AE013599; AAF58471.4; -; Genomic_DNA.
DR EMBL; AE013599; AFH08037.1; -; Genomic_DNA.
DR RefSeq; NP_001246283.1; NM_001259354.2. [A0A0B4K859-1]
DR RefSeq; NP_610810.2; NM_136966.4. [A0A0B4K859-2]
DR AlphaFoldDB; A0A0B4K859; -.
DR IntAct; A0A0B4K859; 6.
DR MINT; A0A0B4K859; -.
DR STRING; 7227.FBpp0297623; -.
DR PaxDb; A0A0B4K859; -.
DR EnsemblMetazoa; FBtr0302596; FBpp0291752; FBgn0033766. [A0A0B4K859-2]
DR EnsemblMetazoa; FBtr0306684; FBpp0297623; FBgn0033766. [A0A0B4K859-1]
DR GeneID; 36397; -.
DR KEGG; dme:Dmel_CG8771; -.
DR CTD; 23511; -.
DR FlyBase; FBgn0033766; Nup188.
DR VEuPathDB; VectorBase:FBgn0033766; -.
DR eggNOG; KOG4833; Eukaryota.
DR GeneTree; ENSGT00390000005742; -.
DR OMA; KFMTIPE; -.
DR OrthoDB; 79804at2759; -.
DR PhylomeDB; A0A0B4K859; -.
DR SignaLink; A0A0B4K859; -.
DR BioGRID-ORCS; 36397; 1 hit in 1 CRISPR screen.
DR GenomeRNAi; 36397; -.
DR PRO; PR:A1Z945; -.
DR Proteomes; UP000000803; Chromosome 2R.
DR Bgee; FBgn0033766; Expressed in ovary and 26 other tissues.
DR ExpressionAtlas; A0A0B4K859; baseline and differential.
DR GO; GO:0044611; C:nuclear pore inner ring; ISS:FlyBase.
DR GO; GO:0017056; F:structural constituent of nuclear pore; ISS:FlyBase.
DR GO; GO:0051028; P:mRNA transport; IEA:UniProtKB-KW.
DR GO; GO:0006999; P:nuclear pore organization; ISS:FlyBase.
DR GO; GO:0006606; P:protein import into nucleus; IBA:GO_Central.
DR GO; GO:0006405; P:RNA export from nucleus; IBA:GO_Central.
DR InterPro; IPR018864; Nucleoporin_Nup188_N.
DR InterPro; IPR044840; Nup188.
DR PANTHER; PTHR31431; PTHR31431; 1.
DR Pfam; PF10487; Nup188; 1.
PE 3: Inferred from homology;
KW Alternative splicing; mRNA transport; Nuclear pore complex; Nucleus;
KW Protein transport; Reference proteome; Translocation; Transport.
FT CHAIN 1..1866
FT /note="Nucleoporin Nup188"
FT /evidence="ECO:0000305"
FT /id="PRO_0000451565"
FT VAR_SEQ 1012..1038
FT /note="Missing (in isoform B)"
FT /evidence="ECO:0000305"
FT /id="VSP_060803"
SQ SEQUENCE 1866 AA; 213609 MW; 49DBDE970924508F CRC64;
MPAVEKSVIT DWKRLWPMVS GIHYETPQDT VREELMNVAS ELQAGVLQFK PKNASSLELG
TLLKEKKQEK LLPFTERLQD LLDLESAQCW EILCYYLTQE YRGSASLLTQ LISTETNMAK
LHEDIRHYYS LERMVVLKIV KNLIVFHQVP NHPYHREYRA VVEKITIPRL RDSYLDQLES
LICEVPPRKL MAGECFHSAE RLVAWSERNA REINEVLHIL LVLAEHLPMG LEQIKRIFAA
CKQHSFGKMQ SYLDDSQPYH QEIIRSLSYS ELMLVLKCLD FEKPEKHSDL IEKLIEDLQV
DIASMYHRPE HGPLLLAWML LRLRGTNDAD DASSLLRCRQ LGKRAVDLKC FVQLHLIARH
SMYADDSMLS RIVRRTIYNQ VGYLCDLFDG DGSCARYEGI YELLCELVSW PHLAKDFCSR
EDDGPCSLYK TLLENFPLEL THLSKLALSL TKAGQGNYVK SQLEALPILA LRYDESQHKL
REVDTNEFEL LASVQPFQQI DFTIPAGTSC TAIQHPSGCF MHFRFPVNYF DALHHEINCL
LRETGHLHGD FESSERIRNV EAGLRFLESA VKLSQSISGI SAEMVHPTEM CVDLLHTFKS
VQYPPVGLLS SCLNVCTALL PLVDEEIFSR ISNLHILPTV SPGSHYDFKM YANANGVGFE
SRFLGSVIDN VEKKRERYEF LLSYIGFLRA YSNLKRNRQI QMEIPGLIFL LKDVFPHLHT
WHFSSQVERN KIYFEILSFI CDILDLFNTA KESNCKQREL LVKVCVYSLL NLENGLILLR
FVGVGNAYVQ YTMELETNWM QQQPHGLMML VRLSMRILMQ LLRLKEEVYG NSETLSPLEA
LIYTQPKQRD TLRIIPTVCS YMSNIFDRWL PILSCRLLKR IALQFNMSLL ACLDMEADQI
RLTFMQKLPD ELESDSIKIA ILELVDACIA KQPGVTEAFF KVNYALDKRS RSFFSKDCVP
NIGESIVTYM RDFLDALQVD PLTIQQALPA KIMTIFHSMW KHNLQMLVDD LVKDKQFWKK
LCSPLFSELQ PNLRIYTQLL NIISIEVYTG NGNNAALLDV MNKFFEQKNF GPWLNYVFNM
PKVPAVKNLS SSDHLPDWIC CLQAFKDLIV ILLKKQPKFV TIPESQFKLM AQKCLVVLVD
RSNYLEDMRP FIILAELYVF ILLEFKHAYT DSLEEEQTLM DLLLQLMNRI CACYEDQHVR
AKEACLAIVT KCTHLYTDLL IRDSSIALRF LNSVVGIICS ELQHMENSVS LEKSQGLNNS
DSSDSKTSTN SLILCLNLLK AVATIFHNDG PGNWDLPFVS VRLFQRLVRC VSRTLPLFSK
QVLSVQLLDV LIVFAKGHCS VEFLHCDVGE YLWLKLLPPR ELLQSKHEFT KTTAADAEGW
TVEQWWPVYA RGIELVTIIY EKHKKCFLED AFQFVGIHAV FLEDALLLSK QSLEPSAMYL
IKAAVNLVAS LTEHHKEWKQ DSDLSLANLM RAVQSLLCHT SSLFHQQKNL KCLLAGRRSQ
LEILRSTEAL IVDDELISAC NDLTDIIISC VKALLRFSPD LMELLCCSAY EPSKHSILLD
VKFGAPKLNE ENLTLTFGIV LNLVNIYVKA LNMQNHGFSE VPLNSLPNVE HSGDNDDPEV
CVGNQTNRTF SKPLSNVSIS TGTCPASELL SNMDGQLCLL ALEHLLMLVA SQAICIIRSP
NLETLWKQIV RRDISNELLI FNEFVRRKVI LDYKENRSPW LRRKHGLCKL KCVDPVRSSS
SSSRSSEIVR RSNTNNELRV NVVRRLHLQQ QQRTPPPQNF DMSSDLSPIA AAQGAAMTTS
LDGRKRLYPA QQAGDAFLED ELAAIELQYF PPPTEPGYCE LSQVQVVEED YLQLMSALFN
VMPHCD
