ID   RSPH9_HUMAN             Reviewed;         276 AA.
AC   Q9H1X1; A8K5T4; Q96NH9;
DT   30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2001, sequence version 1.
DT   27-MAR-2024, entry version 153.
DE   RecName: Full=Radial spoke head protein 9 homolog;
GN   Name=RSPH9; Synonyms=C6orf206, MRPS18AL1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP   ILE-261.
RC   TISSUE=Brain;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA   Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA   Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA   Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA   Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA   Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA   French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA   Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA   Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA   Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA   Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA   Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA   Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA   Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA   Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA   Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA   Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA   Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA   Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA   Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA   West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA   Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA   Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA   Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Testis;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   IDENTIFICATION, FUNCTION, AND VARIANT CILD12 LYS-268 DEL.
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).
CC   -!- FUNCTION: Functions as part of axonemal radial spoke complexes that
CC       play an important part in the motility of sperm and cilia
CC       (PubMed:19200523). Essential for both the radial spoke head assembly
CC       and the central pair microtubule stability in ependymal motile cilia
CC       (By similarity). Required for motility of olfactory and neural cilia
CC       and for the structural integrity of ciliary axonemes in both 9+0 and
CC       9+2 motile cilia (By similarity). {ECO:0000250|UniProtKB:Q5TYW6,
CC       ECO:0000250|UniProtKB:Q9D9V4, ECO:0000269|PubMed:19200523}.
CC   -!- SUBUNIT: Component of the axonemal radial spoke 1 (RS1) and 2 (RS2)
CC       complexes, at least composed of spoke head proteins RSPH1, RSPH3, RSPH9
CC       and the cilia-specific component RSPH4A or sperm-specific component
CC       RSPH6A, spoke stalk proteins RSPH14, DNAJB13, DYDC1, ROPN1L and NME5,
CC       and the RS1 complex-specific anchor protein IQUB (By similarity).
CC       Interacts with IQUB (By similarity). Interacts with RSPH3B (By
CC       similarity). Interacts with RSPH4A (By similarity). Interacts with
CC       RSPH6A (By similarity). Interacts with CFAP61 (By similarity).
CC       {ECO:0000250|UniProtKB:Q9D9V4}.
CC   -!- INTERACTION:
CC       Q9H1X1; Q9NP66: HMG20A; NbExp=3; IntAct=EBI-10305303, EBI-740641;
CC       Q9H1X1; Q86WA8: LONP2; NbExp=2; IntAct=EBI-10305303, EBI-2513996;
CC       Q9H1X1; Q8ND90: PNMA1; NbExp=3; IntAct=EBI-10305303, EBI-302345;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC       {ECO:0000250|UniProtKB:Q9D9V4}. Cytoplasm, cytoskeleton, flagellum
CC       axoneme {ECO:0000250|UniProtKB:Q9D9V4}. Cell projection, kinocilium
CC       {ECO:0000250|UniProtKB:Q5TYW6}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9H1X1-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9H1X1-2; Sequence=VSP_042934, VSP_042935;
CC   -!- DISEASE: Ciliary dyskinesia, primary, 12 (CILD12) [MIM:612650]: A
CC       disorder characterized by abnormalities of motile cilia. Respiratory
CC       infections leading to chronic inflammation and bronchiectasis are
CC       recurrent, due to defects in the respiratory cilia; reduced fertility
CC       is often observed in male patients due to abnormalities of sperm tails.
CC       Half of the patients exhibit situs inversus, due to dysfunction of
CC       monocilia at the embryonic node and randomization of left-right body
CC       asymmetry. Primary ciliary dyskinesia associated with situs inversus is
CC       referred to as Kartagener syndrome. {ECO:0000269|PubMed:19200523}.
CC       Note=The disease is caused by variants affecting the gene represented
CC       in this entry.
CC   -!- SIMILARITY: Belongs to the flagellar radial spoke RSP9 family.
CC       {ECO:0000305}.
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DR   EMBL; AK055407; BAB70918.1; -; mRNA.
DR   EMBL; AK291399; BAF84088.1; -; mRNA.
DR   EMBL; AL136131; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471081; EAX04222.1; -; Genomic_DNA.
DR   EMBL; BC029519; AAH29519.1; -; mRNA.
DR   CCDS; CCDS4905.1; -. [Q9H1X1-1]
DR   CCDS; CCDS55005.1; -. [Q9H1X1-2]
DR   RefSeq; NP_001180270.1; NM_001193341.1. [Q9H1X1-2]
DR   RefSeq; NP_689945.2; NM_152732.4. [Q9H1X1-1]
DR   PDB; 8J07; EM; 4.10 A; M/N/O/P/m/n/o/p=1-276.
DR   PDBsum; 8J07; -.
DR   AlphaFoldDB; Q9H1X1; -.
DR   EMDB; EMD-35888; -.
DR   SMR; Q9H1X1; -.
DR   BioGRID; 128723; 18.
DR   ComplexPortal; CPX-8163; Radial spoke complex, ciliiar variant.
DR   ComplexPortal; CPX-8164; Radial spoke complex, flagellar variant.
DR   IntAct; Q9H1X1; 12.
DR   STRING; 9606.ENSP00000361238; -.
DR   GlyGen; Q9H1X1; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q9H1X1; -.
DR   PhosphoSitePlus; Q9H1X1; -.
DR   BioMuta; RSPH9; -.
DR   DMDM; 73917724; -.
DR   MassIVE; Q9H1X1; -.
DR   PaxDb; 9606-ENSP00000361238; -.
DR   PeptideAtlas; Q9H1X1; -.
DR   ProteomicsDB; 80450; -. [Q9H1X1-1]
DR   ProteomicsDB; 80451; -. [Q9H1X1-2]
DR   Antibodypedia; 30558; 96 antibodies from 18 providers.
DR   DNASU; 221421; -.
DR   Ensembl; ENST00000372163.5; ENSP00000361236.4; ENSG00000172426.16. [Q9H1X1-1]
DR   Ensembl; ENST00000372165.8; ENSP00000361238.4; ENSG00000172426.16. [Q9H1X1-2]
DR   GeneID; 221421; -.
DR   KEGG; hsa:221421; -.
DR   MANE-Select; ENST00000372163.5; ENSP00000361236.4; NM_152732.5; NP_689945.2.
DR   UCSC; uc003ovw.3; human. [Q9H1X1-1]
DR   AGR; HGNC:21057; -.
DR   CTD; 221421; -.
DR   DisGeNET; 221421; -.
DR   GeneCards; RSPH9; -.
DR   GeneReviews; RSPH9; -.
DR   HGNC; HGNC:21057; RSPH9.
DR   HPA; ENSG00000172426; Tissue enhanced (choroid plexus, fallopian tube, testis).
DR   MalaCards; RSPH9; -.
DR   MIM; 612648; gene.
DR   MIM; 612650; phenotype.
DR   neXtProt; NX_Q9H1X1; -.
DR   OpenTargets; ENSG00000172426; -.
DR   Orphanet; 244; Primary ciliary dyskinesia.
DR   PharmGKB; PA164725569; -.
DR   VEuPathDB; HostDB:ENSG00000172426; -.
DR   GeneTree; ENSGT00390000018686; -.
DR   HOGENOM; CLU_079530_0_0_1; -.
DR   InParanoid; Q9H1X1; -.
DR   OMA; WSLQFEC; -.
DR   OrthoDB; 147141at2759; -.
DR   PhylomeDB; Q9H1X1; -.
DR   TreeFam; TF323644; -.
DR   PathwayCommons; Q9H1X1; -.
DR   SignaLink; Q9H1X1; -.
DR   BioGRID-ORCS; 221421; 84 hits in 1145 CRISPR screens.
DR   ChiTaRS; RSPH9; human.
DR   GeneWiki; RSPH9; -.
DR   GenomeRNAi; 221421; -.
DR   Pharos; Q9H1X1; Tbio.
DR   PRO; PR:Q9H1X1; -.
DR   Proteomes; UP000005640; Chromosome 6.
DR   RNAct; Q9H1X1; Protein.
DR   Bgee; ENSG00000172426; Expressed in bronchial epithelial cell and 108 other cell types or tissues.
DR   GO; GO:0097729; C:9+2 motile cilium; IDA:GO_Central.
DR   GO; GO:0005930; C:axoneme; IDA:GO_Central.
DR   GO; GO:0060091; C:kinocilium; IEA:UniProtKB-SubCell.
DR   GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
DR   GO; GO:0001535; C:radial spoke head; ISS:UniProtKB.
DR   GO; GO:0120336; C:radial spoke head 1; IEA:Ensembl.
DR   GO; GO:0120338; C:radial spoke head 3; IEA:Ensembl.
DR   GO; GO:0036126; C:sperm flagellum; ISS:UniProtKB.
DR   GO; GO:1904158; P:axonemal central apparatus assembly; ISS:UniProtKB.
DR   GO; GO:0035082; P:axoneme assembly; IMP:BHF-UCL.
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   PANTHER; PTHR22069; MITOCHONDRIAL RIBOSOMAL PROTEIN S18; 1.
DR   PANTHER; PTHR22069:SF0; RADIAL SPOKE HEAD PROTEIN 9 HOMOLOG; 1.
DR   Genevisible; Q9H1X1; HS.
PE   1: Evidence at protein level;
KW   3D-structure; Alternative splicing; Cell projection; Ciliopathy; Cilium;
KW   Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Disease variant;
KW   Flagellum; Kartagener syndrome; Primary ciliary dyskinesia;
KW   Reference proteome.
FT   CHAIN           1..276
FT                   /note="Radial spoke head protein 9 homolog"
FT                   /id="PRO_0000089561"
FT   VAR_SEQ         132..146
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_042934"
FT   VAR_SEQ         226..276
FT                   /note="WSIQMERGNALVVLRSLLWPGLTFYHAPRTKNYGYVYVGTGEKNMDLPFML
FT                   -> EAVVQGDFTWLLSRCGFGWPCSWDSCSVSMRVLEHPDGEGQCPGGAAQPALAGPHL
FT                   LPCSPHQELWLRLRGHWREEHGLALHAIEWEPAWMFLNRV (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_042935"
FT   VARIANT         261
FT                   /note="V -> I (in dbSNP:rs16896629)"
FT                   /evidence="ECO:0000269|PubMed:14702039"
FT                   /id="VAR_050815"
FT   VARIANT         268
FT                   /note="Missing (in CILD12)"
FT                   /evidence="ECO:0000269|PubMed:19200523"
FT                   /id="VAR_055236"
SQ   SEQUENCE   276 AA;  31292 MW;  3C158E7994CF84C5 CRC64;
     MDADSLLLSL ELASGSGQGL SPDRRASLLT SLMLVKRDYR YDRVLFWGRI LGLVADYYIA
     QGLSEDQLAP RKTLYSLNCT EWSLLPPATE EMVAQSSVVK GRFMGDPSYE YEHTELQKVN
     EGEKVFEEEI VVQIKEETRL VSVIDQIDKA VAIIPRGALF KTPFGPTHVN RTFEGLSLSE
     AKKLSSYFHF REPVELKNKT LLEKADLDPS LDFMDSLEHD IPKGSWSIQM ERGNALVVLR
     SLLWPGLTFY HAPRTKNYGY VYVGTGEKNM DLPFML
//