RSPH9_HUMAN
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 03-AUG-2022, entry version 145.
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: Component of the axonemal radial spoke head which plays an
CC important role in ciliary motility (PubMed:19200523). Essential for
CC both the radial spoke head assembly and the central pair microtubule
CC stability in ependymal motile cilia (By similarity). 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 (By similarity).
CC {ECO:0000250|UniProtKB:Q5TYW6, ECO:0000250|UniProtKB:Q9D9V4,
CC ECO:0000269|PubMed:19200523}.
CC -!- SUBUNIT: Interacts with RSPH6A. {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:0000305}. Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:Q9D9V4}. Cell projection, kinocilium
CC {ECO:0000250|UniProtKB:Q5TYW6}. Note=Radial spoke. {ECO:0000305}.
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 AlphaFoldDB; Q9H1X1; -.
DR SMR; Q9H1X1; -.
DR BioGRID; 128723; 17.
DR IntAct; Q9H1X1; 12.
DR STRING; 9606.ENSP00000361238; -.
DR iPTMnet; Q9H1X1; -.
DR PhosphoSitePlus; Q9H1X1; -.
DR BioMuta; RSPH9; -.
DR DMDM; 73917724; -.
DR MassIVE; Q9H1X1; -.
DR PeptideAtlas; Q9H1X1; -.
DR PRIDE; Q9H1X1; -.
DR ProteomicsDB; 80450; -. [Q9H1X1-1]
DR ProteomicsDB; 80451; -. [Q9H1X1-2]
DR Antibodypedia; 30558; 80 antibodies from 17 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 CTD; 221421; -.
DR DisGeNET; 221421; -.
DR GeneCards; RSPH9; -.
DR GeneReviews; RSPH9; -.
DR HGNC; HGNC:21057; RSPH9.
DR HPA; ENSG00000172426; Tissue enhanced (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; HGYIYIG; -.
DR OrthoDB; 978175at2759; -.
DR PhylomeDB; Q9H1X1; -.
DR TreeFam; TF323644; -.
DR PathwayCommons; Q9H1X1; -.
DR SignaLink; Q9H1X1; -.
DR BioGRID-ORCS; 221421; 84 hits in 1067 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 106 other tissues.
DR Genevisible; Q9H1X1; HS.
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: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.
PE 1: Evidence at protein level;
KW 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
