LOCUS       NM_030785               2442 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens radial spoke head 6 homolog A (RSPH6A), mRNA.
ACCESSION   NM_030785
VERSION     NM_030785.4
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 2442)
  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   2  (bases 1 to 2442)
  AUTHORS   Aouizerat,B.E., Vittinghoff,E., Musone,S.L., Pawlikowska,L.,
            Kwok,P.Y., Olgin,J.E. and Tseng,Z.H.
  TITLE     GWAS for discovery and replication of genetic loci associated with
            sudden cardiac arrest in patients with coronary artery disease
  JOURNAL   BMC Cardiovasc Disord 11, 29 (2011)
   PUBMED   21658281
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2442)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   4  (bases 1 to 2442)
  AUTHORS   Eriksson,M., Ansved,T., Anvret,M. and Carey,N.
  TITLE     A mammalian radial spokehead-like gene, RSHL1, at the myotonic
            dystrophy-1 locus
  JOURNAL   Biochem Biophys Res Commun 281 (4), 835-841 (2001)
   PUBMED   11237735
REFERENCE   5  (bases 1 to 2442)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB037465.1 and BC057785.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030785.3.
            
            Summary: The protein encoded by this gene is similar to a sea
            urchin radial spoke head protein. Radial spoke protein complexes
            form part of the axoneme of eukaryotic flagella and are located
            between the axoneme's outer ring of doublet microtubules and
            central pair of microtubules. In Chlamydomonas, radial spoke
            proteins are thought to regulate the activity of dynein and the
            symmetry of flagellar bending patterns. This gene maps to a region
            of chromosome 19 that is linked to primary ciliary dyskinesia-2
            (CILD2). [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL136761.1, AK098837.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221538.8/ ENSP00000221538.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-133               DB037465.1         40-172
            134-2442            BC057785.1         1-2309
FEATURES             Location/Qualifiers
     source          1..2442
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..2442
                     /gene="RSPH6A"
                     /gene_synonym="RSHL1; RSP4; RSP6; RSPH4B"
                     /note="radial spoke head 6 homolog A"
                     /db_xref="GeneID:81492"
                     /db_xref="HGNC:HGNC:14241"
                     /db_xref="MIM:607548"
     exon            1..782
                     /gene="RSPH6A"
                     /gene_synonym="RSHL1; RSP4; RSP6; RSPH4B"
                     /inference="alignment:Splign:2.1.0"
     CDS             133..2286
                     /gene="RSPH6A"
                     /gene_synonym="RSHL1; RSP4; RSP6; RSPH4B"
                     /note="ortholog of mouse radial spokehead-like 1; radial
                     spoke head-like protein 1"
                     /codon_start=1
                     /product="radial spoke head protein 6 homolog A"
                     /protein_id="NP_110412.1"
                     /db_xref="CCDS:CCDS12675.1"
                     /db_xref="GeneID:81492"
                     /db_xref="HGNC:HGNC:14241"
                     /db_xref="MIM:607548"
                     /translation="MGDLPPYPERPAQQPPGRRTSQASQRRHSRDQAQALAADPEERQ
                     QIPPDAQRNAPGWSQRGSLSQQENLLMPQVFQAEEARLGGMEYPSVNTGFPSEFQPQP
                     YSDESRMQVAELTTSLMLQRLQQGQSSLFQQLDPTFQEPPVNPLGQFNLYQTDQFSEG
                     AQHGPYIRDDPALQFLPSELGFPHYSAQVPEPEPLELAVQNAKAYLLQTSINCDLSLY
                     EHLVNLLTKILNQRPEDPLSVLESLNRTTQWEWFHPKLDTLRDDPEMQPTYKMAEKQK
                     ALFTRSGGGTEGEQEMEEEVGETPVPNIMETAFYFEQAGVGLSSDESFRIFLAMKQLV
                     EQQPIHTCRFWGKILGIKRSYLVAEVEFREGEEEAEEEEVEEMTEGGEVMEAHGEEEG
                     EEDEEKAVDIVPKSVWKPPPVIPKEESRSGANKYLYFVCNEPGLPWTRLPHVTPAQIV
                     NARKIKKFFTGYLDTPVVSYPPFPGNEANYLRAQIARISAATQVSPLGFYQFSEEEGD
                     EEEEGGAGRDSYEENPDFEGIPVLELVDSMANWVHHTQHILPQGRCTWVNPLQKTEEE
                     EDLGEEEEKADEGPEEVEQEVGPPLLTPLSEDAEIMHLAPWTTRLSCSLCPQYSVAVV
                     RSNLWPGAYAYASGKKFENIYIGWGHKYSPESFNPALPAPIQQEYPSGPEIMEMSDPT
                     VEEEQALKAAQEQALGATEEEEEGEEEEEGEETDD"
     exon            783..1020
                     /gene="RSPH6A"
                     /gene_synonym="RSHL1; RSP4; RSP6; RSPH4B"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1785
                     /gene="RSPH6A"
                     /gene_synonym="RSHL1; RSP4; RSP6; RSPH4B"
                     /inference="alignment:Splign:2.1.0"
     exon            1786..1930
                     /gene="RSPH6A"
                     /gene_synonym="RSHL1; RSP4; RSP6; RSPH4B"
                     /inference="alignment:Splign:2.1.0"
     exon            1931..2048
                     /gene="RSPH6A"
                     /gene_synonym="RSHL1; RSP4; RSP6; RSPH4B"
                     /inference="alignment:Splign:2.1.0"
     exon            2049..2442
                     /gene="RSPH6A"
                     /gene_synonym="RSHL1; RSP4; RSP6; RSPH4B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2423..2428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RSPH6A"
                     /gene_synonym="RSHL1; RSP4; RSP6; RSPH4B"
                     /note="hexamer: AATAAA"
     polyA_site      2442
                     /gene="RSPH6A"
                     /gene_synonym="RSHL1; RSP4; RSP6; RSPH4B"
                     /note="major polyA site"
ORIGIN      
        1 gctccccgcg ccctccacgg gtaacggccc cctctctcgg tgctcagaaa ccggcggtgt
       61 cgacaggtgg ctctcgcttg gcctccttgt ctgcaagcct ttctcctaga gatctgtgcc
      121 tcctggcgaa ccatgggaga cctgccgccc taccctgagc gccctgccca gcagcctccg
      181 ggccggagga cttctcaggc ctcccagagg cggcacagtc gggaccaagc tcaggccctg
      241 gcagcggacc ccgaggagag gcagcagata cctccagacg cccagcgaaa cgcccctggt
      301 tggtcacaga ggggcagcct gtcccaacag gagaacttgc tgatgcccca ggtcttccag
      361 gctgaggaag cccggctggg tggcatggag tacccatctg tgaacacggg ctttccctca
      421 gagttccagc ctcagcctta ctctgatgaa agcaggatgc aggtcgccga gctcaccacc
      481 agcctaatgc tgcagcggct ccagcagggc caaagcagcc tgttccagca actggacccc
      541 accttccagg agcccccagt caaccccttg ggccagttca acctctacca gacagaccag
      601 ttctctgaag gtgcccagca cgggccttac ataagggatg accctgccct tcagttcttg
      661 ccctctgagc tgggcttccc acactacagt gcccaggtgc ctgagcccga gcctctggag
      721 ctggccgtgc agaacgccaa ggcctacctg ctgcagacca gcatcaattg cgacctcagc
      781 ctgtacgagc acctggtgaa tctgctgacc aagatcctga accagcggcc tgaggacccc
      841 ttgtctgtcc tggagtctct gaaccgcacc acgcagtggg agtggttcca ccccaagctg
      901 gacacgctgc gggacgaccc cgagatgcag cccacctaca agatggcgga gaaacagaag
      961 gcgctgttca cccggagtgg aggcggcact gaaggcgaac aggagatgga ggaggaggtg
     1021 ggggagacac cagtgcccaa catcatggag actgccttct acttcgagca ggccggcgtc
     1081 ggcctgagct cggacgagag cttccgcatt ttcctggcca tgaaacagct ggtggagcag
     1141 cagcccatcc acacctgtcg cttctggggc aagatcctgg gaatcaaacg cagctacctg
     1201 gtggccgagg tggaattccg ggagggcgag gaggaggcag aggaggagga ggtggaggag
     1261 atgacggaag gtggcgaggt catggaggcg cacggcgagg aggagggcga ggaggacgag
     1321 gagaaggccg tggacatcgt ccctaagtcc gtatggaagc cgccgcccgt gatccccaag
     1381 gaggagagcc gctcaggcgc caacaagtac ctgtactttg tgtgcaacga gccgggcctg
     1441 ccatggacgc ggctgcccca cgtcactcca gcccagatcg tgaacgcccg aaagatcaag
     1501 aagttcttca caggctacct ggacacgcca gtcgtcagct acccaccctt cccgggcaac
     1561 gaggccaact acctgcgggc ccagatagcc cgcatctcgg ccgccacgca ggtcagcccg
     1621 ctgggcttct accagtttag tgaggaggag ggcgacgagg aggaggaagg tggtgctggg
     1681 cgcgactcct acgaggagaa cccggacttc gagggcatcc ccgtgctgga gctggtcgac
     1741 tccatggcca actgggtgca tcacacacag cacatcctgc cgcagggccg ctgcacttgg
     1801 gtgaaccctt tgcagaagac agaggaggag gaggacctgg gggaggagga agagaaggca
     1861 gatgaggggc cagaggaggt ggagcaggag gttggccccc cactgctaac gccactttca
     1921 gaagatgcag aaatcatgca cctggcaccc tggaccaccc gcctgtcctg cagcctctgc
     1981 ccgcagtact cagtggccgt tgtgcgctcc aacctctggc ccggggccta tgcctatgcc
     2041 agtggcaaaa agtttgagaa catctacatc ggctggggtc acaagtacag ccccgagagc
     2101 ttcaacccgg ccctgccagc ccccattcaa caagagtacc ccagtggccc agagatcatg
     2161 gagatgagtg accccacagt ggaagaggag caggctctga aagcagccca ggaacaagcc
     2221 ctgggagcca cagaggagga ggaggagggc gaggaggagg aggagggcga ggagacagat
     2281 gactgaggcc caccctctag ccactttccc caagcaggta gatagcaaat ttccccttag
     2341 aggtagttag catggattat attttcacta tgtgcttcct gtccccagag ggcagggata
     2401 gaaaaggaag gcaactgctt caaataaaat tcctccacgg ca
//
