LOCUS       NM_152732               2545 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens radial spoke head component 9 (RSPH9), transcript
            variant 1, mRNA.
ACCESSION   NM_152732
VERSION     NM_152732.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2545)
  AUTHORS   Hwang,J.Y., Chai,P., Nawaz,S., Choi,J., Lopez-Giraldez,F.,
            Hussain,S., Bilguvar,K., Mane,S., Lifton,R.P., Ahmad,W., Zhang,K.
            and Chung,J.J.
  TITLE     LRRC23 truncation impairs radial spoke 3 head assembly and sperm
            motility underlying male infertility
  JOURNAL   Elife 12, 90095 (2023)
   PUBMED   38091523
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2545)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2545)
  AUTHORS   Zhu,L., Liu,H., Chen,Y., Yan,X. and Zhu,X.
  TITLE     Rsph9 is critical for ciliary radial spoke assembly and central
            pair microtubule stability
  JOURNAL   Biol Cell 111 (2), 29-38 (2019)
   PUBMED   30383886
REFERENCE   4  (bases 1 to 2545)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 2545)
  AUTHORS   Boldt,K., van Reeuwijk,J., Lu,Q., Koutroumpas,K., Nguyen,T.M.,
            Texier,Y., van Beersum,S.E., Horn,N., Willer,J.R., Mans,D.A.,
            Dougherty,G., Lamers,I.J., Coene,K.L., Arts,H.H., Betts,M.J.,
            Beyer,T., Bolat,E., Gloeckner,C.J., Haidari,K., Hetterschijt,L.,
            Iaconis,D., Jenkins,D., Klose,F., Knapp,B., Latour,B.,
            Letteboer,S.J., Marcelis,C.L., Mitic,D., Morleo,M., Oud,M.M.,
            Riemersma,M., Rix,S., Terhal,P.A., Toedt,G., van Dam,T.J., de
            Vrieze,E., Wissinger,Y., Wu,K.M., Apic,G., Beales,P.L.,
            Blacque,O.E., Gibson,T.J., Huynen,M.A., Katsanis,N., Kremer,H.,
            Omran,H., van Wijk,E., Wolfrum,U., Kepes,F., Davis,E.E., Franco,B.,
            Giles,R.H., Ueffing,M., Russell,R.B. and Roepman,R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2545)
  AUTHORS   Zietkiewicz,E., Bukowy-Bieryllo,Z., Voelkel,K., Klimek,B.,
            Dmenska,H., Pogorzelski,A., Sulikowska-Rowinska,A., Rutkiewicz,E.
            and Witt,M.
  TITLE     Mutations in radial spoke head genes and ultrastructural cilia
            defects in East-European cohort of primary ciliary dyskinesia
            patients
  JOURNAL   PLoS One 7 (3), e33667 (2012)
   PUBMED   22448264
  REMARK    GeneRIF: Mutations in RSPH9 leads to ultrastructural cilia defects
            and ciliary dyskinesia.
REFERENCE   7  (bases 1 to 2545)
  AUTHORS   Reish,O., Slatkin,M., Chapman-Shimshoni,D., Elizur,A., Chioza,B.,
            Castleman,V. and Mitchison,H.M.
  TITLE     Founder mutation(s) in the RSPH9 gene leading to primary ciliary
            dyskinesia in two inbred Bedouin families
  JOURNAL   Ann Hum Genet 74 (2), 117-125 (2010)
   PUBMED   20070851
  REMARK    GeneRIF: Study focused on an extended 5 generation Bedouin family,
            analysed mutation segregation, and calculated the age of the
            mutated allele in 2 families based on haplotypes and
            haplotype+microsatellite in an attempt to define the source of the
            mutation.
REFERENCE   8  (bases 1 to 2545)
  AUTHORS   Castleman,V.H., Romio,L., Chodhari,R., Hirst,R.A., de Castro,S.C.,
            Parker,K.A., Ybot-Gonzalez,P., Emes,R.D., Wilson,S.W., Wallis,C.,
            Johnson,C.A., Herrera,R.J., Rutman,A., Dixon,M., Shoemark,A.,
            Bush,A., Hogg,C., Gardiner,R.M., Reish,O., Greene,N.D.,
            O'Callaghan,C., Purton,S., Chung,E.M. and Mitchison,H.M.
  TITLE     Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause
            primary ciliary dyskinesia with central-microtubular-pair
            abnormalities
  JOURNAL   Am J Hum Genet 84 (2), 197-209 (2009)
   PUBMED   19200523
REFERENCE   9  (bases 1 to 2545)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   10 (bases 1 to 2545)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA486918.1, BC029519.1 and
            AL136131.15.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_152732.4.
            
            Summary: This gene encodes a protein thought to be a component of
            the radial spoke head in motile cilia and flagella. Mutations in
            this gene are associated with primary ciliary dyskinesia 12.
            Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the shorter protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK291399.1, SRR5189667.286777.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372163.5/ ENSP00000361236.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                DA486918.1         7-43
            38-952              BC029519.1         1-915
            953-2545            AL136131.15        36726-38318
FEATURES             Location/Qualifiers
     source          1..2545
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..2545
                     /gene="RSPH9"
                     /gene_synonym="C6orf206; CILD12; MRPS18AL1"
                     /note="radial spoke head component 9"
                     /db_xref="GeneID:221421"
                     /db_xref="HGNC:HGNC:21057"
                     /db_xref="MIM:612648"
     exon            1..290
                     /gene="RSPH9"
                     /gene_synonym="C6orf206; CILD12; MRPS18AL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..894
                     /gene="RSPH9"
                     /gene_synonym="C6orf206; CILD12; MRPS18AL1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     radial spoke head protein 9 homolog; radial spoke head 9
                     homolog"
                     /codon_start=1
                     /product="radial spoke head protein 9 homolog isoform 1"
                     /protein_id="NP_689945.2"
                     /db_xref="CCDS:CCDS4905.1"
                     /db_xref="GeneID:221421"
                     /db_xref="HGNC:HGNC:21057"
                     /db_xref="MIM:612648"
                     /translation="MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRV
                     LFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCTEWSLLPPATEEMVAQSSVVKGR
                     FMGDPSYEYEHTELQKVNEGEKVFEEEIVVQIKEETRLVSVIDQIDKAVAIIPRGALF
                     KTPFGPTHVNRTFEGLSLSEAKKLSSYFHFREPVELKNKTLLEKADLDPSLDFMDSLE
                     HDIPKGSWSIQMERGNALVVLRSLLWPGLTFYHAPRTKNYGYVYVGTGEKNMDLPFML
                     "
     exon            291..456
                     /gene="RSPH9"
                     /gene_synonym="C6orf206; CILD12; MRPS18AL1"
                     /inference="alignment:Splign:2.1.0"
     exon            457..586
                     /gene="RSPH9"
                     /gene_synonym="C6orf206; CILD12; MRPS18AL1"
                     /inference="alignment:Splign:2.1.0"
     exon            587..733
                     /gene="RSPH9"
                     /gene_synonym="C6orf206; CILD12; MRPS18AL1"
                     /inference="alignment:Splign:2.1.0"
     exon            734..2545
                     /gene="RSPH9"
                     /gene_synonym="C6orf206; CILD12; MRPS18AL1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      953
                     /gene="RSPH9"
                     /gene_synonym="C6orf206; CILD12; MRPS18AL1"
                     /note="major polyA site"
     regulatory      2524..2529
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RSPH9"
                     /gene_synonym="C6orf206; CILD12; MRPS18AL1"
                     /note="hexamer: AATAAA"
     polyA_site      2545
                     /gene="RSPH9"
                     /gene_synonym="C6orf206; CILD12; MRPS18AL1"
ORIGIN      
        1 aggtctccat ggaggcggct tctcctagca actcgacggg cgttgagcgg agccgctgac
       61 ctgatggacg ccgacagcct cctgctgtct ctggagctgg cgtccggcag tgggcagggc
      121 ctcagcccgg accgtcgggc ctcgctgctc acgtctctta tgctggttaa gcgcgactac
      181 cgctatgatc gggttctctt ctggggccgc atccttggcc tcgtcgccga ttactacatc
      241 gcgcagggcc tgagtgagga ccagctcgca ccgcgcaaga cgctctatag cctgaactgc
      301 acagagtgga gcctcttgcc ccctgccaca gaggagatgg tggcgcagtc gtctgtggtg
      361 aagggccgct tcatggggga cccatcatac gaatatgaac acactgagct gcagaaggtg
      421 aatgaaggtg aaaaagtctt tgaagaagaa atagtggtcc agatcaagga agagacccgc
      481 ttggtgtctg tcattgacca gattgacaag gctgtggcca tcatcccccg aggcgccctc
      541 ttcaagaccc cttttggacc cacccatgtc aatcggacct ttgaaggact gtccttgtct
      601 gaggccaaga agctcagctc ctacttccat ttcagggagc ctgttgagct aaagaataag
      661 accttgcttg agaaggctga cctggacccc tccctggatt tcatggactc cttggagcat
      721 gacattccca aagggtcctg gagcatccag atggagaggg gcaatgccct ggtggtgctg
      781 cgcagcctgc tctggccggg cctcaccttc taccatgctc cccgcaccaa gaactatggc
      841 tacgtctacg tgggcactgg cgagaagaac atggacttgc ccttcatgct atagaatggg
      901 agccagcctg gatgttttta aacagagtct aaacatgatt ttcttaagct tcagtgaact
      961 tggcctgcct gttctgtcct atcttcttaa ctccacctcc gtctggttcc agattctgaa
     1021 aggcccactg agccagggag ctcatttcta aaccaagtgg cagaggggtt ggaatgtgct
     1081 aatgaaagag attctagaca acgatgggtg gaaatggctg tgggagaagg tgacaaccag
     1141 ggcccctttg aggaacgcag tttcttggat tcacacgaga gcggcaagtg tgtcaggcag
     1201 cccaccttgg ctccctgcag ctctcccaca gtaaggagct cacagctgtc atgaagagga
     1261 tgggacctgt ttggcccatg aattcaattg actcattggc cccatcacaa gagatcagtg
     1321 actcaatgct cagcacccag ctggcaatgt gcccaggacc ccctgcactt cccaagcagt
     1381 gagcgcacac ccaatgggta agcccatgaa cccagtttat gacactgcgt tgggcaaaac
     1441 tcctgtcccc agcactgagc atggcctaag ccccatagca gctggcaagg gacccaactg
     1501 ccctgcctgc ctctagctcc cagcattgct actgtgcagg ccaagggtac tgaagttagt
     1561 cccactgtcc cctgtccatg catgttggag ggaccaggcc atcgtggtgg ggtgggacag
     1621 gagtatagtt gtggccaagg gcttgtgagt gggcctccta ctccccagca caggtgcagg
     1681 aggaactctg gaagcactgc tctctgtcag tgatacagct tccaaggtgt tcttgagtag
     1741 cagacattgt ccctcagaag gggtgacccc acgggcatgc gcaccctgtt ccagcggggg
     1801 ccttttttgt agatgggctt gacggagcca ggagcccagc gcgtcaggta cctgtggagg
     1861 gagaacaaag aggtgcctgt gagggctggg ggcccaagct ggacgtggga gagtggagca
     1921 ctacctcctc aggccaggcc acggttgggc aagcaaatcc tttcaccagt ttccctttcc
     1981 tgaagtgcag ggattttcct gggagtaact gctgagcgtc ctgtaaacag atgggctggg
     2041 ctcttgctgc cgcaagcctg tgtggccagg ttcaggcagc ccagggccac aagctccctt
     2101 gatctttgta aatgtcaatg ttggtgtgtg tttgctgagg aaaaggtggc gaagaggctg
     2161 cctgaagagc agatcattcc tctctggcct cagccatggg gcgagaagag ctgatgtaag
     2221 gctctggagg aacccattgc tcttccccat ttggctcact cagctacccc aaccttcagg
     2281 gaactcccca gggtactata actggtataa gacccctgcc cctcacccaa cctgtgatgg
     2341 gaatcaaggg gtaagggccc gtgggcgcag ccctagccta ggaaggttcc tgtaaatagg
     2401 aggggggtgg ggaaagatgg ctgccgccca tggacctttg gcctcctttg gggatggcca
     2461 gggccctgat agttcccaga aaagtggctc atgccggcta ggattgggtt ttactctgtc
     2521 cagaataaaa cttggatcct gtcca
//
