ID   RSPH9_DANRE             Reviewed;         277 AA.
AC   Q5TYW6; Q32LV4;
DT   20-JAN-2009, integrated into UniProtKB/Swiss-Prot.
DT   07-DEC-2004, sequence version 1.
DT   03-AUG-2022, entry version 88.
DE   RecName: Full=Radial spoke head protein 9 homolog;
GN   Name=rsph9; ORFNames=si:ch211-117l16.2, zgc:123211;
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 (NOV-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   DISRUPTION PHENOTYPE, AND FUNCTION.
RX   PubMed=19200523; DOI=10.1016/j.ajhg.2009.01.011;
RA   Castleman V.H., Romio L., Chodhari R., Hirst R.A., de Castro S.C.P.,
RA   Parker K.A., Ybot-Gonzalez P., Emes R.D., Wilson S.W., Wallis C.,
RA   Johnson C.A., Herrera R.J., Rutman A., Dixon M., Shoemark A., Bush A.,
RA   Hogg C., Gardiner R.M., Reish O., Greene N.D.E., O'Callaghan C., Purton S.,
RA   Chung E.M.K., Mitchison H.M.;
RT   "Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause
RT   primary ciliary dyskinesia with central-microtubular-pair abnormalities.";
RL   Am. J. Hum. Genet. 84:197-209(2009).
RN   [4]
RP   FUNCTION, SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE, AND DEVELOPMENTAL
RP   STAGE.
RX   PubMed=27687975; DOI=10.1038/srep34437;
RA   Sedykh I., TeSlaa J.J., Tatarsky R.L., Keller A.N., Toops K.A.,
RA   Lakkaraju A., Nyholm M.K., Wolman M.A., Grinblat Y.;
RT   "Novel roles for the radial spoke head protein 9 in neural and neurosensory
RT   cilia.";
RL   Sci. Rep. 6:34437-34437(2016).
CC   -!- FUNCTION: Component of the axonemal radial spoke head which plays an
CC       important role in ciliary motility (PubMed:19200523). Required for
CC       motility of olfactory and neural cilia and for the structural integrity
CC       of ciliary axonemes in both 9+0 and 9+2 motile cilia (PubMed:27687975).
CC       Essential for both the radial spoke head assembly and the central pair
CC       microtubule stability in ependymal motile cilia (By similarity).
CC       {ECO:0000250|UniProtKB:Q9D9V4, ECO:0000269|PubMed:19200523,
CC       ECO:0000269|PubMed:27687975}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC       {ECO:0000269|PubMed:27687975, ECO:0000305}. Cell projection, cilium,
CC       flagellum {ECO:0000250|UniProtKB:Q9D9V4}. Cell projection, kinocilium
CC       {ECO:0000269|PubMed:27687975}. Note=Radial spoke. {ECO:0000305}.
CC   -!- DEVELOPMENTAL STAGE: Expressed in ciliated structures in the embryos
CC       namely, Kupffer's vesicle, pronephric ducts, otic placodes and ventral
CC       spinal cord (at protein level) (PubMed:27687975). Also expressed in the
CC       ventral midline of the midbrain primordium (at protein level)
CC       (PubMed:27687975). {ECO:0000269|PubMed:27687975}.
CC   -!- DISRUPTION PHENOTYPE: Dysmotile olfactory pit cilia which have a normal
CC       beat frequency but an ineffective circular beat pattern. Effect can be
CC       rescued by coinjection of mouse Rsph9 mRNA (PubMed:19200523). Embryos
CC       with CRISPR-induced rsph9 null mutations exhibit a greatly diminished
CC       olfactory and neural ciliary motility, structural defects in neural and
CC       pronephric ciliary axonemes and an impaired initiation of startle
CC       response to acoustic stimulation (PubMed:27687975).
CC       {ECO:0000269|PubMed:19200523, ECO:0000269|PubMed:27687975}.
CC   -!- SIMILARITY: Belongs to the flagellar radial spoke RSP9 family.
CC       {ECO:0000305}.
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DR   EMBL; BX649467; CAH68865.1; -; Genomic_DNA.
DR   EMBL; BC109416; AAI09417.1; -; mRNA.
DR   RefSeq; NP_001025284.1; NM_001030113.1.
DR   AlphaFoldDB; Q5TYW6; -.
DR   SMR; Q5TYW6; -.
DR   STRING; 7955.ENSDARP00000017411; -.
DR   PaxDb; Q5TYW6; -.
DR   Ensembl; ENSDART00000010903; ENSDARP00000017411; ENSDARG00000017355.
DR   GeneID; 558005; -.
DR   KEGG; dre:558005; -.
DR   CTD; 221421; -.
DR   ZFIN; ZDB-GENE-051120-129; rsph9.
DR   eggNOG; ENOG502QR99; Eukaryota.
DR   GeneTree; ENSGT00390000018686; -.
DR   HOGENOM; CLU_068343_1_0_1; -.
DR   InParanoid; Q5TYW6; -.
DR   OMA; HGYIYIG; -.
DR   OrthoDB; 978175at2759; -.
DR   PhylomeDB; Q5TYW6; -.
DR   TreeFam; TF323644; -.
DR   PRO; PR:Q5TYW6; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Chromosome 4.
DR   Bgee; ENSDARG00000017355; Expressed in testis and 17 other tissues.
DR   GO; GO:0005930; C:axoneme; IDA:ZFIN.
DR   GO; GO:0005929; C:cilium; IDA:ZFIN.
DR   GO; GO:0060091; C:kinocilium; IDA:ZFIN.
DR   GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
DR   GO; GO:0001534; C:radial spoke; IEA:InterPro.
DR   GO; GO:1904158; P:axonemal central apparatus assembly; ISS:UniProtKB.
DR   GO; GO:0035082; P:axoneme assembly; IMP:BHF-UCL.
DR   GO; GO:0060271; P:cilium assembly; IMP:ZFIN.
DR   GO; GO:0003341; P:cilium movement; IMP:BHF-UCL.
DR   GO; GO:0060294; P:cilium movement involved in cell motility; IBA:GO_Central.
DR   GO; GO:0044458; P:motile cilium assembly; IBA:GO_Central.
DR   GO; GO:0062177; P:radial spoke assembly; ISS:UniProtKB.
DR   InterPro; IPR006802; Radial_spoke.
DR   Pfam; PF04712; Radial_spoke; 1.
PE   1: Evidence at protein level;
KW   Cell projection; Cilium; Cilium biogenesis/degradation; Cytoplasm;
KW   Cytoskeleton; Flagellum; Reference proteome.
FT   CHAIN           1..277
FT                   /note="Radial spoke head protein 9 homolog"
FT                   /id="PRO_0000359748"
FT   CONFLICT        225
FT                   /note="G -> E (in Ref. 2; AAI09417)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   277 AA;  30924 MW;  F63381195D7286A1 CRC64;
     MDSDSLHYSL DLAAANGLTL SSEQRAALQS SLLIVKRNYK FSRVLFWGKI LGIKSDYFIA
     QGVEDDELKN RKSLYSLNCV DWHLLPPATE SMIADVALAA TGRFTGDPSH EYEHTEIRTE
     GEGDEATHEE VTVKVIEASR LAAIVSNIDK DVSVVPRGAF IKSPNGKVQT NRSFGGLHPT
     EAAKLRNYLH FREPVNLRNK SILEMSELNP ALDFLDPLSE DILKGSWSLQ LDRGGTVCVL
     RSLLWLGFTF FHVPQTPQHG YIYMGDGLMN LDLPFML