NUP88_DANRE
ID NUP88_DANRE Reviewed; 720 AA.
AC A2CEI4; A0A2R8QUY6; Q501Y6;
DT 16-OCT-2019, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 1.
DT 03-AUG-2022, entry version 91.
DE RecName: Full=Nucleoporin 88 {ECO:0000312|ZFIN:ZDB-GENE-050522-297};
GN Name=nup88 {ECO:0000312|ZFIN:ZDB-GENE-050522-297};
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Olfactory epithelium;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP TISSUE SPECIFICITY, AND MUTAGENESIS OF 244-TYR--PHE-720; ASP-414;
RP 490-HIS--PHE-720 AND GLU-613.
RX PubMed=30543681; DOI=10.1371/journal.pgen.1007845;
RA Bonnin E., Cabochette P., Filosa A., Juehlen R., Komatsuzaki S.,
RA Hezwani M., Dickmanns A., Martinelli V., Vermeersch M., Supply L.,
RA Martins N., Pirenne L., Ravenscroft G., Lombard M., Port S., Spillner C.,
RA Janssens S., Roets E., Van Dorpe J., Lammens M., Kehlenbach R.H.,
RA Ficner R., Laing N.G., Hoffmann K., Vanhollebeke B., Fahrenkrog B.;
RT "Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia
RT deformation sequence.";
RL PLoS Genet. 14:E1007845-E1007845(2018).
CC -!- FUNCTION: Component of the nuclear pore complex.
CC {ECO:0000250|UniProtKB:Q99567}.
CC -!- SUBCELLULAR LOCATION: Nucleus, nuclear pore complex
CC {ECO:0000250|UniProtKB:Q99567}.
CC -!- TISSUE SPECIFICITY: Widely expressed. Higher levels of expression are
CC detected in highly proliferative frontal regions of the embryo, e.g.
CC brain, eye and anterior trunk. {ECO:0000269|PubMed:30543681}.
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DR EMBL; CR450697; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX957294; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC095815; AAH95815.1; -; mRNA.
DR RefSeq; NP_001018302.1; NM_001020466.1.
DR AlphaFoldDB; A2CEI4; -.
DR SMR; A2CEI4; -.
DR STRING; 7955.ENSDARP00000025718; -.
DR PaxDb; A2CEI4; -.
DR PeptideAtlas; A2CEI4; -.
DR PRIDE; A2CEI4; -.
DR Ensembl; ENSDART00000023123; ENSDARP00000025718; ENSDARG00000003235.
DR GeneID; 321744; -.
DR KEGG; dre:321744; -.
DR CTD; 4927; -.
DR ZFIN; ZDB-GENE-050522-297; nup88.
DR eggNOG; KOG4460; Eukaryota.
DR GeneTree; ENSGT00390000015063; -.
DR HOGENOM; CLU_017144_0_0_1; -.
DR InParanoid; A2CEI4; -.
DR OMA; HINQIQL; -.
DR OrthoDB; 1149034at2759; -.
DR PhylomeDB; A2CEI4; -.
DR TreeFam; TF105307; -.
DR Reactome; R-DRE-159227; Transport of the SLBP independent Mature mRNA.
DR Reactome; R-DRE-159230; Transport of the SLBP Dependant Mature mRNA.
DR Reactome; R-DRE-159231; Transport of Mature mRNA Derived from an Intronless Transcript.
DR Reactome; R-DRE-159236; Transport of Mature mRNA derived from an Intron-Containing Transcript.
DR Reactome; R-DRE-191859; snRNP Assembly.
DR Reactome; R-DRE-3108214; SUMOylation of DNA damage response and repair proteins.
DR Reactome; R-DRE-3232142; SUMOylation of ubiquitinylation proteins.
DR Reactome; R-DRE-3301854; Nuclear Pore Complex (NPC) Disassembly.
DR Reactome; R-DRE-3371453; Regulation of HSF1-mediated heat shock response.
DR Reactome; R-DRE-4085377; SUMOylation of SUMOylation proteins.
DR Reactome; R-DRE-4551638; SUMOylation of chromatin organization proteins.
DR Reactome; R-DRE-4570464; SUMOylation of RNA binding proteins.
DR Reactome; R-DRE-4615885; SUMOylation of DNA replication proteins.
DR Reactome; R-DRE-5578749; Transcriptional regulation by small RNAs.
DR PRO; PR:A2CEI4; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 5.
DR Bgee; ENSDARG00000003235; Expressed in gastrula and 21 other tissues.
DR GO; GO:0005643; C:nuclear pore; IEA:UniProtKB-SubCell.
DR GO; GO:0017056; F:structural constituent of nuclear pore; IEA:InterPro.
DR GO; GO:0051028; P:mRNA transport; IEA:UniProtKB-KW.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR GO; GO:0000055; P:ribosomal large subunit export from nucleus; IEA:InterPro.
DR GO; GO:0000056; P:ribosomal small subunit export from nucleus; IEA:InterPro.
DR InterPro; IPR019321; Nucleoporin_Nup88.
DR InterPro; IPR037700; NUP88/NUP82.
DR PANTHER; PTHR13257; PTHR13257; 1.
DR Pfam; PF10168; Nup88; 1.
PE 1: Evidence at protein level;
KW Coiled coil; mRNA transport; Nuclear pore complex; Nucleus;
KW Protein transport; Reference proteome; Translocation; Transport.
FT CHAIN 1..720
FT /note="Nucleoporin 88"
FT /id="PRO_0000448055"
FT COILED 584..611
FT /evidence="ECO:0000255"
FT MUTAGEN 244..720
FT /note="Missing: In sa2206; homozygous mutant fishes have
FT reduced head and eye size, dysmorphic jaw, lack of
FT pharyngeal arches, flat head without protruding mouth,
FT downward curvature of the anterior-posterior axis, aplastic
FT swim bladder, impaired locomotor behavior and neuromuscular
FT junction defects."
FT /evidence="ECO:0000269|PubMed:30543681"
FT MUTAGEN 414
FT /note="D->Y: Does not rescue developmental defects in
FT sa2206 mutants."
FT /evidence="ECO:0000269|PubMed:30543681"
FT MUTAGEN 490..720
FT /note="Missing: Does not rescue developmental defects in
FT sa2206 mutants."
FT /evidence="ECO:0000269|PubMed:30543681"
FT MUTAGEN 613
FT /note="Missing: Does not rescue developmental defects in
FT sa2206 mutants."
FT /evidence="ECO:0000269|PubMed:30543681"
FT CONFLICT 93
FT /note="Q -> L (in Ref. 2; AAH95815)"
FT /evidence="ECO:0000305"
FT CONFLICT 140
FT /note="V -> L (in Ref. 1; BX957294)"
FT /evidence="ECO:0000305"
FT CONFLICT 190
FT /note="R -> K (in Ref. 2; AAH95815)"
FT /evidence="ECO:0000305"
FT CONFLICT 197
FT /note="M -> L (in Ref. 1; BX957294 and 2; AAH95815)"
FT /evidence="ECO:0000305"
FT CONFLICT 704
FT /note="I -> T (in Ref. 2; AAH95815)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 720 AA; 80861 MW; 59A73F2A1185D832 CRC64;
MASLAGDRWR EALKNHDIFN NLQERLHLEP QGTSKRIAKN LTFCLNGDLF IWDSVESVFY
TTNLRQLNSD GEPDTSRYQT LLCINPPLFE VCQVLVSPSQ YHVALIGQRG ATVLELPQRW
GKKSEFEGGR IQINCKTIPV AERFFTSSAS VTLRQAVWYP SETEEPHLVL LTSDNTIRFY
NLKEPQSPAR VLSVSQMDDD SSVHTRSRSY AASLGETAVA FDFGPLADSP HLSSLRMKAE
LVVYPLYILY GNGETFLNYI SLSHSVGSLG KPMGPLPMYP AAEDNYGYDA CAVLCLPCVP
NILVIATESG MLYHCVVLEA EEEEDGGAVE RWSRGSETAP SLYVFECVEL ELTLKLPAGE
EEEITESDFT CPIRLHRDPL CQHRYHCTHE AGVHSVGLTW FKKLHKFLES DEEDKDSLQE
LAAEQRCIVE HILCTRPLAN SLPAPVRGFW IVSDLSLGAT MICITSTYEC LLLPLLSSIR
PASPPLLCSH PGAGSDSSPL RGLAEDSFEQ HIRNILARSS TNPLMLRSGD KDSSPPPSEC
LQLLSRATQV FREEYILKLG LAHEEMQRRV KLLSGQKNKQ LEDLALCRED RKSLTEAAER
LADKYEDAKY RQEAIMNRVK RVLGSLRSQL PVLSDSEKDM RKELQTINDQ LRHLDNGIKQ
VNMKKDYQKK QMNAGASPAH SSLTLNAHQR KCLQGVLKEQ GEHIAGMMKQ IKDIKNHFSF
