ID Q8QGW4_DANRE Unreviewed; 412 AA.
AC Q8QGW4; B3DI24; F6PCD4;
DT 01-JUN-2002, integrated into UniProtKB/TrEMBL.
DT 01-JUN-2002, sequence version 1.
DT 27-MAR-2024, entry version 181.
DE SubName: Full=43 kDa receptor-associated protein of the synapse {ECO:0000313|RefSeq:NP_840090.1};
DE SubName: Full=Rapsyn protein {ECO:0000313|EMBL:BAB85679.1};
DE SubName: Full=Receptor-associated protein of the synapse, 43kD {ECO:0000313|EMBL:AAI62972.1, ECO:0000313|Ensembl:ENSDARP00000060294};
GN Name=rapsn {ECO:0000313|EMBL:AAI62972.1,
GN ECO:0000313|Ensembl:ENSDARP00000060294,
GN ECO:0000313|RefSeq:NP_840090.1, ECO:0000313|ZFIN:ZDB-GENE-030313-1};
GN Synonyms=rapsyn {ECO:0000313|EMBL:BAB85679.1};
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 {ECO:0000313|EMBL:AAI62972.1};
RN [1] {ECO:0000313|RefSeq:NP_840090.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=9007226;
RA Haffter P., Granato M., Brand M., Mullins M.C., Hammerschmidt M.,
RA Kane D.A., Odenthal J., van Eeden F.J., Jiang Y.J., Heisenberg C.P.,
RA Kelsh R.N., Furutani-Seiki M., Vogelsang E., Beuchle D., Schach U.,
RA Fabian C., Nusslein-Volhard C.;
RT "The identification of genes with unique and essential functions in the
RT development of the zebrafish, Danio rerio.";
RL Development 123:1-36(1996).
RN [2] {ECO:0000313|RefSeq:NP_840090.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=9007258;
RA Granato M., van Eeden F.J., Schach U., Trowe T., Brand M.,
RA Furutani-Seiki M., Haffter P., Hammerschmidt M., Heisenberg C.P.,
RA Jiang Y.J., Kane D.A., Kelsh R.N., Mullins M.C., Odenthal J.,
RA Nusslein-Volhard C.;
RT "Genes controlling and mediating locomotion behavior of the zebrafish
RT embryo and larva.";
RL Development 123:399-413(1996).
RN [3] {ECO:0000313|EMBL:BAB85679.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=12151528;
RA Ono F., Shcherbatko A., Higashijima S., Mandel G., Brehm P.;
RT "The Zebrafish motility mutant twitch once reveals new roles for rapsyn in
RT synaptic function.";
RL J. Neurosci. 22:6491-6498(2002).
RN [4] {ECO:0000313|RefSeq:NP_840090.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=12880634;
RA Lewis K.E., Eisen J.S.;
RT "From cells to circuits: development of the zebrafish spinal cord.";
RL Prog. Neurobiol. 69:419-449(2003).
RN [5] {ECO:0000313|RefSeq:NP_840090.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=15294139;
RA Ibanez-Tallon I., Wen H., Miwa J.M., Xing J., Tekinay A.B., Ono F.,
RA Brehm P., Heintz N.;
RT "Tethering naturally occurring peptide toxins for cell-autonomous
RT modulation of ion channels and receptors in vivo.";
RL Neuron 43:305-311(2004).
RN [6] {ECO:0000313|EMBL:AAI62972.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (APR-2008) to the EMBL/GenBank/DDBJ databases.
RN [7] {ECO:0000313|RefSeq:NP_840090.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=22623681;
RA Park J.Y., Ikeda H., Ikenaga T., Ono F.;
RT "Acetylcholine receptors enable the transport of rapsyn from the Golgi
RT complex to the plasma membrane.";
RL J. Neurosci. 32:7356-7363(2012).
RN [8] {ECO:0000313|Ensembl:ENSDARP00000060294}
RP IDENTIFICATION.
RC STRAIN=Tuebingen {ECO:0000313|Ensembl:ENSDARP00000060294};
RG Ensembl;
RL Submitted (FEB-2012) to UniProtKB.
RN [9] {ECO:0000313|Ensembl:ENSDARP00000060294, ECO:0000313|Proteomes:UP000000437}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen {ECO:0000313|Ensembl:ENSDARP00000060294};
RX PubMed=23594743; DOI=10.1038/nature12111;
RG Genome Reference Consortium Zebrafish;
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., Eliott D.,
RA Threadgold G., Harden G., Ware D., Begum S., Mortimore B., Mortimer B.,
RA Kerry G., Heath P., Phillimore B., Tracey A., Corby N., Dunn M.,
RA Johnson C., Wood J., Clark S., Pelan S., Griffiths G., Smith M.,
RA Glithero R., Howden P., Barker N., Lloyd C., Stevens C., Harley J.,
RA Holt K., Panagiotidis G., Lovell J., Beasley H., Henderson C., Gordon D.,
RA Auger K., Wright D., Collins J., Raisen C., Dyer L., Leung K.,
RA Robertson L., Ambridge K., Leongamornlert D., McGuire S., Gilderthorp R.,
RA Griffiths C., Manthravadi D., Nichol S., Barker G., Whitehead S., Kay M.,
RA Brown J., Murnane C., Gray E., Humphries M., Sycamore N., Barker D.,
RA Saunders D., Wallis J., Babbage A., Hammond S., Mashreghi-Mohammadi M.,
RA Barr L., Martin S., Wray P., Ellington A., Matthews N., Ellwood M.,
RA Woodmansey R., Clark G., Cooper J., Cooper J., Tromans A., Grafham D.,
RA Skuce C., Pandian R., Andrews R., Harrison E., Kimberley A., Garnett J.,
RA Fosker N., Hall R., Garner P., Kelly D., Bird C., Palmer S., Gehring I.,
RA Berger A., Dooley C.M., Ersan-Urun Z., Eser C., Geiger H., Geisler M.,
RA Karotki L., Kirn A., Konantz J., Konantz M., Oberlander M.,
RA Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G., Osoegawa K., Zhu B.,
RA Rapp A., Widaa S., Langford C., Yang F., Schuster S.C., Carter N.P.,
RA Harrow J., Ning Z., Herrero J., Searle S.M., Enright A., Geisler R.,
RA Plasterk R.H., Lee C., Westerfield M., de Jong P.J., Zon L.I.,
RA Postlethwait J.H., Nusslein-Volhard C., Hubbard T.J., Roest Crollius H.,
RA 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 [10] {ECO:0000313|RefSeq:NP_840090.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=24218366;
RA See K., Yadav P., Giegerich M., Cheong P.S., Graf M., Vyas H., Lee S.G.,
RA Mathavan S., Fischer U., Sendtner M., Winkler C.;
RT "SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse
RT models of spinal muscular atrophy.";
RL Hum. Mol. Genet. 23:1754-1770(2014).
RN [11] {ECO:0000313|RefSeq:NP_840090.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=27798141;
RA Wen H., Hubbard J.M., Wang W.C., Brehm P.;
RT "Fatigue in Rapsyn-Deficient Zebrafish Reflects Defective Transmitter
RT Release.";
RL J. Neurosci. 36:10870-10882(2016).
RN [12] {ECO:0000313|RefSeq:NP_840090.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=30543681; DOI=10.1371/journal.pgen.1007845;
RA Bonnin E., Cabochette P., Filosa A., Juhlen R., Komatsuzaki S., Hezwani M.,
RA Dickmanns A., Martinelli V., Vermeersch M., Supply L., Martins N.,
RA Pirenne L., Ravenscroft G., Lombard M., Port S., Spillner C., Janssens S.,
RA Roets E., Van Dorpe J., Lammens M., Kehlenbach R.H., Ficner R., Laing N.G.,
RA 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).
RN [13] {ECO:0000313|Ensembl:ENSDARP00000157167}
RP IDENTIFICATION.
RC STRAIN=Tuebingen {ECO:0000313|Ensembl:ENSDARP00000157167};
RG Ensembl;
RL Submitted (APR-2018) to UniProtKB.
RN [14] {ECO:0000313|RefSeq:NP_840090.1}
RP IDENTIFICATION.
RG RefSeq;
RL Submitted (NOV-2023) to UniProtKB.
CC -!- SIMILARITY: Belongs to the RAPsyn family.
CC {ECO:0000256|ARBA:ARBA00007295}.
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DR EMBL; BX469889; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX470166; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX942814; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC162972; AAI62972.1; -; mRNA.
DR EMBL; BC162998; AAI62998.1; -; mRNA.
DR EMBL; AB070208; BAB85679.1; -; mRNA.
DR RefSeq; NP_840090.1; NM_178305.1.
DR STRING; 7955.ENSDARP00000060294; -.
DR PaxDb; 7955-ENSDARP00000060294; -.
DR Ensembl; ENSDART00000060295.7; ENSDARP00000060294.6; ENSDARG00000041133.9.
DR Ensembl; ENSDART00000186402.1; ENSDARP00000157167.1; ENSDARG00000111358.1.
DR GeneID; 352942; -.
DR KEGG; dre:352942; -.
DR AGR; ZFIN:ZDB-GENE-030313-1; -.
DR CTD; 5913; -.
DR ZFIN; ZDB-GENE-030313-1; rapsn.
DR eggNOG; KOG1941; Eukaryota.
DR HOGENOM; CLU_030911_0_0_1; -.
DR OMA; ALRCSHI; -.
DR OrthoDB; 893642at2759; -.
DR Proteomes; UP000000437; Alternate scaffold 18.
DR Proteomes; UP000000437; Chromosome 18.
DR Bgee; ENSDARG00000041133; Expressed in muscle tissue and 7 other cell types or tissues.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProt.
DR GO; GO:0031594; C:neuromuscular junction; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0033130; F:acetylcholine receptor binding; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0043495; F:protein-membrane adaptor activity; IEA:InterPro.
DR GO; GO:0007268; P:chemical synaptic transmission; IMP:ZFIN.
DR GO; GO:1900075; P:positive regulation of neuromuscular synaptic transmission; IBA:GO_Central.
DR GO; GO:0007416; P:synapse assembly; IMP:ZFIN.
DR GO; GO:0007271; P:synaptic transmission, cholinergic; IBA:GO_Central.
DR CDD; cd16478; RING-H2_Rapsyn; 1.
DR Gene3D; 1.25.40.10; Tetratricopeptide repeat domain; 2.
DR Gene3D; 3.30.40.10; Zinc/RING finger domain, C3HC4 (zinc finger); 1.
DR InterPro; IPR001237; Postsynaptic.
DR InterPro; IPR018293; Postsynaptic_CS.
DR InterPro; IPR019568; Rapsyn_myristoylation/link_N.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR InterPro; IPR001841; Znf_RING.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR PANTHER; PTHR46574; 43 KDA RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE; 1.
DR PANTHER; PTHR46574:SF1; 43 KDA RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE; 1.
DR Pfam; PF10579; Rapsyn_N; 1.
DR Pfam; PF13424; TPR_12; 1.
DR Pfam; PF13181; TPR_8; 1.
DR Pfam; PF17123; zf-RING_11; 1.
DR PRINTS; PR00217; POSTSYNAPTIC.
DR SMART; SM00184; RING; 1.
DR SMART; SM00028; TPR; 7.
DR SUPFAM; SSF81901; HCP-like; 1.
DR SUPFAM; SSF57850; RING/U-box; 1.
DR SUPFAM; SSF48452; TPR-like; 1.
DR PROSITE; PS00405; 43_KD_POSTSYNAPTIC; 1.
DR PROSITE; PS50005; TPR; 2.
DR PROSITE; PS50089; ZF_RING_2; 1.
PE 2: Evidence at transcript level;
KW Metal-binding {ECO:0000256|ARBA:ARBA00022723};
KW Receptor {ECO:0000313|EMBL:AAI62972.1, ECO:0000313|RefSeq:NP_840090.1};
KW Reference proteome {ECO:0000313|Proteomes:UP000000437};
KW Repeat {ECO:0000256|ARBA:ARBA00022737};
KW TPR repeat {ECO:0000256|ARBA:ARBA00022803, ECO:0000256|PROSITE-
KW ProRule:PRU00339}; Zinc {ECO:0000256|ARBA:ARBA00022833};
KW Zinc-finger {ECO:0000256|ARBA:ARBA00022771, ECO:0000256|PROSITE-
KW ProRule:PRU00175}.
FT REPEAT 123..156
FT /note="TPR"
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00339"
FT REPEAT 286..319
FT /note="TPR"
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00339"
FT DOMAIN 363..403
FT /note="RING-type"
FT /evidence="ECO:0000259|PROSITE:PS50089"
SQ SEQUENCE 412 AA; 46910 MW; 40283671BBA6E2CC CRC64;
MGQDQTKQQI EKGLKLYQSN DTEKALYVWM KVLRKTSDPG GKFRVLGCLI TAHSEMGKYK
EMLQFSLAQI NTAREMEDPD YLTEGYLNLA RSNEKLCDFQ KTVSYCETCL NMQGTTVSLQ
LNGQVCLSMG NAYLGLSVFQ KALVSYEKAL RYAHNNDDKM LECRVCCSLG NFYIQLKDFE
KALFFPCKAA ELVNDYGKGW SLKYRAMSQY HMSVAYKKLM RLPDAMECCE ESMKIALQHG
DRPLQALCLL NFADIHRCQK DVDKAFPRYE SSMCIMSEIG NRLGQASIYV GVGKCWILQK
EYDKALDSLQ RANDLAEAIG NKLCILKVHS LCEGIYRCKE QQEELREQVV KFLQCVEELE
LYCGMCGESI GEKNQQLQAL PCSHIFHLKC LQTNGTKGCP KCHRSSVKLG FV
//
