LOCUS       NM_080860               1300 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens radial spoke head component 1 (RSPH1), transcript
            variant 1, mRNA.
ACCESSION   NM_080860
VERSION     NM_080860.4
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 1300)
  AUTHORS   Tate,G.
  TITLE     Whole-exome sequencing reveals a combination of extremely rare
            single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a
            Japanese fetus with situs viscerum inversus
  JOURNAL   Med Mol Morphol 54 (3), 275-280 (2021)
   PUBMED   34008076
  REMARK    GeneRIF: Whole-exome sequencing reveals a combination of extremely
            rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a
            Japanese fetus with situs viscerum inversus.
REFERENCE   2  (bases 1 to 1300)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1300)
  AUTHORS   Blanchon,S., Legendre,M., Bottier,M., Tamalet,A., Montantin,G.,
            Collot,N., Faucon,C., Dastot,F., Copin,B., Clement,A., Filoche,M.,
            Coste,A., Amselem,S., Escudier,E., Papon,J.F. and Louis,B.
  TITLE     Deep phenotyping, including quantitative ciliary beating
            parameters, and extensive genotyping in primary ciliary dyskinesia
  JOURNAL   J Med Genet 57 (4), 237-244 (2020)
   PUBMED   31772028
  REMARK    GeneRIF: Deep phenotyping, including quantitative ciliary beating
            parameters, and extensive genotyping in primary ciliary dyskinesia.
REFERENCE   4  (bases 1 to 1300)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1300)
  AUTHORS   Lin,J., Yin,W., Smith,M.C., Song,K., Leigh,M.W., Zariwala,M.A.,
            Knowles,M.R., Ostrowski,L.E. and Nicastro,D.
  TITLE     Cryo-electron tomography reveals ciliary defects underlying human
            RSPH1 primary ciliary dyskinesia
  JOURNAL   Nat Commun 5, 5727 (2014)
   PUBMED   25473808
  REMARK    GeneRIF: RSPH1 mutations in primary ciliary dyskinesia cause
            structural defects in the cilia.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1300)
  AUTHORS   Shetty,J., Klotz,K.L., Wolkowicz,M.J., Flickinger,C.J. and
            Herr,J.C.
  TITLE     Radial spoke protein 44 (human meichroacidin) is an axonemal
            alloantigen of sperm and cilia
  JOURNAL   Gene 396 (1), 93-107 (2007)
   PUBMED   17451891
  REMARK    GeneRIF: Radial spoke protein 44 denotes the restricted
            localization of the protein to the radial spokes of the axonemes of
            both sperm and cilia.
REFERENCE   7  (bases 1 to 1300)
  AUTHORS   Hu,Y.H., Warnatz,H.J., Vanhecke,D., Wagner,F., Fiebitz,A.,
            Thamm,S., Kahlem,P., Lehrach,H., Yaspo,M.L. and Janitz,M.
  TITLE     Cell array-based intracellular localization screening reveals novel
            functional features of human chromosome 21 proteins
  JOURNAL   BMC Genomics 7, 155 (2006)
   PUBMED   16780588
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1300)
  AUTHORS   Tsuchida,J., Nishina,Y., Wakabayashi,N., Nozaki,M., Sakai,Y. and
            Nishimune,Y.
  TITLE     Molecular cloning and characterization of meichroacidin (male
            meiotic metaphase chromosome-associated acidic protein)
  JOURNAL   Dev Biol 197 (1), 67-76 (1998)
   PUBMED   9578619
REFERENCE   9  (bases 1 to 1300)
  AUTHORS   Taketo,M.M., Araki,Y., Matsunaga,A., Yokoi,A., Tsuchida,J.,
            Nishina,Y., Nozaki,M., Tanaka,H., Koga,M., Uchida,K., Matsumiya,K.,
            Okuyama,A., Rochelle,J.M., Nishimune,Y., Matsui,M. and Seldin,M.F.
  TITLE     Mapping of eight testis-specific genes to mouse chromosomes
  JOURNAL   Genomics 46 (1), 138-142 (1997)
   PUBMED   9403069
REFERENCE   10 (bases 1 to 1300)
  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 AB006536.1 and BU684013.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_080860.3.
            
            Summary: This gene encodes a male meiotic metaphase
            chromosome-associated acidic protein. This gene is expressed in
            tissues with motile cilia or flagella, including the trachea,
            lungs, airway brushings, and testes. Mutations in this gene result
            in primary ciliary dyskinesia-24. Alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Sep 2014].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes the longer 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 :: SRR5189667.242360.1,
                                           SRR3476690.1003589.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291536.8/ ENSP00000291536.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1297              AB006536.1         131-1427
            1298-1300           BU684013.1         16-18               c
FEATURES             Location/Qualifiers
     source          1..1300
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..1300
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /note="radial spoke head component 1"
                     /db_xref="GeneID:89765"
                     /db_xref="HGNC:HGNC:12371"
                     /db_xref="MIM:609314"
     exon            1..92
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..968
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     testes specific gene A2 homolog; male meiotic metaphase
                     chromosome-associated acidic protein; meichroacidin;
                     cancer/testis antigen 79; testis specific A2 homolog;
                     radial spoke head 1 homolog"
                     /codon_start=1
                     /product="radial spoke head 1 homolog isoform 1"
                     /protein_id="NP_543136.1"
                     /db_xref="CCDS:CCDS13688.1"
                     /db_xref="GeneID:89765"
                     /db_xref="HGNC:HGNC:12371"
                     /db_xref="MIM:609314"
                     /translation="MSDLGSEELEEEGENDIGEYEGGRNEAGERHGRGRARLPNGDTY
                     EGSYEFGKRHGQGIYKFKNGARYIGEYVRNKKHGQGTFIYPDGSRYEGEWANDLRHGH
                     GVYYYINNDTYTGEWFAHQRHGQGTYLYAETGSKYVGTWVNGQQEGTAELIHLNHRYQ
                     GKFLNKNPVGPGKYVFDVGCEQHGEYRLTDMERGEEEEEEELVTVVPKWKATQITELA
                     LWTPTLPKKPTSTDGPGQDAPGAESAGEPGEEAQALLEGFEGEMDMRPGDEDADVLRE
                     ESREYDQEEFRYDMDEGNINSEEEETRQSDLQD"
     exon            93..206
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /inference="alignment:Splign:2.1.0"
     exon            207..312
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /inference="alignment:Splign:2.1.0"
     exon            313..403
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /inference="alignment:Splign:2.1.0"
     exon            404..539
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /inference="alignment:Splign:2.1.0"
     exon            540..611
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /inference="alignment:Splign:2.1.0"
     exon            612..765
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /inference="alignment:Splign:2.1.0"
     exon            766..915
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1300
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1268..1273
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /note="hexamer: AATAAA"
     polyA_site      1300
                     /gene="RSPH1"
                     /gene_synonym="CT79; RSP44; RSPH10A; TSA2; TSGA2"
                     /note="major polyA site"
ORIGIN      
        1 agaggcgctg cggctgtgat ccaggctggg gcgagaccat gtcggacctg ggctcggagg
       61 agttggagga ggagggagag aatgatattg gggaatatga ggggggtcgg aatgaggcag
      121 gcgaaaggca cggacgtggg agggcacggc tacccaacgg ggacacctac gaagggagct
      181 acgaattcgg taaaagacat ggccagggga tctacaaatt taaaaatggt gctcgatata
      241 tcggagaata tgttagaaat aaaaagcacg gtcaaggcac ttttatatat ccagatggat
      301 ccagatatga aggagagtgg gcaaatgacc tgcggcacgg ccatggcgta tactactaca
      361 tcaataatga cacctacact ggagagtggt ttgctcatca aaggcatggg caaggcacct
      421 atttatacgc ggagacgggc agtaagtatg ttggcacctg ggtgaacgga cagcaggagg
      481 gcacggccga gctcattcac ctgaaccaca ggtaccaggg caagttcttg aacaaaaatc
      541 ctgttggccc tggaaagtat gtatttgatg ttgggtgtga acaacatggt gaatatcgtt
      601 taacagatat ggaaagagga gaagaggaag aggaggaaga attagtaact gttgttccaa
      661 aatggaaagc tacccaaatc actgaattgg ccctgtggac accaactctc cccaaaaagc
      721 cgacctctac ggatggacct ggccaagacg ctccaggagc tgagagtgca ggagaacccg
      781 gggaggaggc ccaggctctg ctggagggct tcgagggtga gatggacatg aggcctggag
      841 atgaagatgc agacgtcctc cgggaagaga gccgggagta tgaccaggag gagttccgct
      901 atgacatgga tgagggaaac attaattctg aagaagaaga aactagacag tcagacctcc
      961 aggactaaga tgaagtgagc cgagaggaga tcgtatcata agaatgcttc tgtcgttagc
     1021 cgggtgcagt gctgtgtgta tctagttcca gctacttgag aggctgaggc aggaggattg
     1081 cttgagtcca gaaagtggca gttgcagtga gtggagatcg cgccactgct ctccagcctg
     1141 ggtggcagag cgagaccctg tctcaaaaaa taaacaaaaa caaaatgctt ctgtcagtta
     1201 acaatcttta ttagagggtt tttagtcttt ctttctcagc tgtatgttaa gttgattgac
     1261 aaatgcaaat aaacgtcttt attatccttt ctttctgaaa
//
