LOCUS       NM_001010892            2840 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens radial spoke head component 4A (RSPH4A), transcript
            variant 1, mRNA.
ACCESSION   NM_001010892 XM_496824
VERSION     NM_001010892.3
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 2840)
  AUTHORS   De Jesus-Rojas,W., Melendez-Montanez,J., Muniz-Hernandez,J.,
            Marra-Nazario,A., Alvarado-Huerta,F., Santos-Lopez,A.,
            Ramos-Benitez,M.J. and Mosquera,R.A.
  TITLE     The RSPH4A Gene in Primary Ciliary Dyskinesia
  JOURNAL   Int J Mol Sci 24 (3), 1936 (2023)
   PUBMED   36768259
  REMARK    GeneRIF: The RSPH4A Gene in Primary Ciliary Dyskinesia.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2840)
  AUTHORS   Zhao,Y., Pinskey,J., Lin,J., Yin,W., Sears,P.R., Daniels,L.A.,
            Zariwala,M.A., Knowles,M.R., Ostrowski,L.E. and Nicastro,D.
  TITLE     Structural insights into the cause of human RSPH4A primary ciliary
            dyskinesia
  JOURNAL   Mol Biol Cell 32 (12), 1202-1209 (2021)
   PUBMED   33852348
  REMARK    GeneRIF: Structural insights into the cause of human RSPH4A primary
            ciliary dyskinesia.
REFERENCE   3  (bases 1 to 2840)
  AUTHORS   Takeuchi,K., Kitano,M., Kiyotoshi,H., Ikegami,K., Ogawa,S.,
            Ikejiri,M., Nagao,M., Fujisawa,T. and Nakatani,K.
  TITLE     A targeted next-generation sequencing panel reveals novel mutations
            in Japanese patients with primary ciliary dyskinesia
  JOURNAL   Auris Nasus Larynx 45 (3), 585-591 (2018)
   PUBMED   28939216
  REMARK    GeneRIF: A novel mutation causing primary ciliary dyskinesia was
            found in Japanese patients.
REFERENCE   4  (bases 1 to 2840)
  AUTHORS   Frommer,A., Hjeij,R., Loges,N.T., Edelbusch,C., Jahnke,C.,
            Raidt,J., Werner,C., Wallmeier,J., Grosse-Onnebrink,J., Olbrich,H.,
            Cindric,S., Jaspers,M., Boon,M., Memari,Y., Durbin,R.,
            Kolb-Kokocinski,A., Sauer,S., Marthin,J.K., Nielsen,K.G.,
            Amirav,I., Elias,N., Kerem,E., Shoseyov,D., Haeffner,K. and
            Omran,H.
  TITLE     Immunofluorescence Analysis and Diagnosis of Primary Ciliary
            Dyskinesia with Radial Spoke Defects
  JOURNAL   Am J Respir Cell Mol Biol 53 (4), 563-573 (2015)
   PUBMED   25789548
  REMARK    GeneRIF: Absence of RSPH4A due to mutations in RSPH4A results in
            deficient axonemal assembly of the RS head components RSPH1 and
            RSPH9.
REFERENCE   5  (bases 1 to 2840)
  AUTHORS   Daniels,M.L., Leigh,M.W., Davis,S.D., Armstrong,M.C., Carson,J.L.,
            Hazucha,M., Dell,S.D., Eriksson,M., Collins,F.S., Knowles,M.R. and
            Zariwala,M.A.
  TITLE     Founder mutation in RSPH4A identified in patients of Hispanic
            descent with primary ciliary dyskinesia
  JOURNAL   Hum Mutat 34 (10), 1352-1356 (2013)
   PUBMED   23798057
  REMARK    GeneRIF: the c.921+3_6delAAGT splice site mutation in RSPH4A is a
            founder mutation that is a common cause of PCD without situs
            abnormalities in patients of Hispanic Puerto Rican descent.
REFERENCE   6  (bases 1 to 2840)
  AUTHORS   Antony,D., Becker-Heck,A., Zariwala,M.A., Schmidts,M.,
            Onoufriadis,A., Forouhan,M., Wilson,R., Taylor-Cox,T., Dewar,A.,
            Jackson,C., Goggin,P., Loges,N.T., Olbrich,H., Jaspers,M.,
            Jorissen,M., Leigh,M.W., Wolf,W.E., Daniels,M.L., Noone,P.G.,
            Ferkol,T.W., Sagel,S.D., Rosenfeld,M., Rutman,A., Dixit,A.,
            O'Callaghan,C., Lucas,J.S., Hogg,C., Scambler,P.J., Emes,R.D.,
            Chung,E.M., Shoemark,A., Knowles,M.R., Omran,H. and Mitchison,H.M.
  CONSRTM   Uk10k
  TITLE     Mutations in CCDC39 and CCDC40 are the major cause of primary
            ciliary dyskinesia with axonemal disorganization and absent inner
            dynein arms
  JOURNAL   Hum Mutat 34 (3), 462-472 (2013)
   PUBMED   23255504
REFERENCE   7  (bases 1 to 2840)
  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 RSPH4A leads to ultrastructural cilia defects
            and ciliary dyskinesia.
REFERENCE   8  (bases 1 to 2840)
  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 2840)
  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 AK299754.1, AK095293.1 and
            CB851663.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001010892.2.
            
            Summary: This gene encodes a protein that appears to be a component
            the radial spoke head, as determined by homology to similar
            proteins in the biflagellate alga Chlamydomonas reinhardtii and
            other ciliates. Radial spokes, which are regularly spaced along
            cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and
            a bulbous 'head' that form a signal transduction scaffold between
            the central pair of microtubules and dynein. Mutations in this gene
            cause primary ciliary dyskinesia 1, a disease arising from
            dysmotility of motile cilia and sperm. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299754.1, SRR1803613.165504.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000229554.10/ ENSP00000229554.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1910              AK299754.1         1-1910
            1911-2630           AK095293.1         1770-2489
            2631-2839           AK299754.1         2631-2839
            2840-2840           CB851663.1         19-19               c
FEATURES             Location/Qualifiers
     source          1..2840
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.1"
     gene            1..2840
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="radial spoke head component 4A"
                     /db_xref="GeneID:345895"
                     /db_xref="HGNC:HGNC:21558"
                     /db_xref="MIM:612647"
     exon            1..831
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /inference="alignment:Splign:2.1.0"
     CDS             146..2296
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     radial spokehead-like 3; radial spoke head protein 4
                     homolog A; radial spoke head-like protein 3; radial spoke
                     head 4 homolog A"
                     /codon_start=1
                     /product="radial spoke head protein 4 homolog A isoform 1"
                     /protein_id="NP_001010892.1"
                     /db_xref="CCDS:CCDS34521.1"
                     /db_xref="GeneID:345895"
                     /db_xref="HGNC:HGNC:21558"
                     /db_xref="MIM:612647"
                     /translation="MEDSTSPKQEKENQEELGETRRPWEGKTAASPQYSEPESSEPLE
                     AKQGPETGRQSRSSRPWSPQSRAKTPLGGPAGPETSSPAPVSPREPSSSPSPLAPARQ
                     DLAAPPQSDRTTSVIPEAGTPYPDPLEQSSDKRESTPHHTSQSEGNTFQQSQQPKPHL
                     CGRRDVSYNNAKQKELRFDVFQEEDSNSDYDLQQPAPGGSEVAPSMLEITIQNAKAYL
                     LKTSSNSGFNLYDHLSNMLTKILNERPENAVDIFENISQDVKMAHFSKKFDALQNENE
                     LLPTYEIAEKQKALFLQGHLEGVDQELEDEIAENALPNVMESAFYFEQAGVGLGTDET
                     YRIFLALKQLTDTHPIQRCRFWGKILGLEMNYIVAEVEFREGEDEEEVEEEDVAEERD
                     NGESEAHEDEEDELPKSFYKAPQAIPKEESRTGANKYVYFVCNEPGRPWVKLPPVIPA
                     QIVIARKIKKFFTGRLDAPIISYPPFPGNESNYLRAQIARISAGTHVSPLGFYQFGEE
                     EGEEEEEAEGGRNSFEENPDFEGIQVIDLVESLSNWVHHVQHILSQGRCNWFNSIQKN
                     EEEEEEEDEEKDDSDYIEQEVGLPLLTPISEDLEIQNIPPWTTRLSSNLIPQYAIAVL
                     QSNLWPGAYAFSNGKKFENFYIGWGHKYSPDNYTPPVPPPVYQEYPSGPEITEMDDPS
                     VEEEQAFRAAQEAVLLAAENEESEEDEDEEDDYD"
     exon            832..1066
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1807
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /inference="alignment:Splign:2.1.0"
     exon            1808..1943
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /inference="alignment:Splign:2.1.0"
     exon            1944..2061
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /inference="alignment:Splign:2.1.0"
     exon            2062..2840
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2633..2638
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="hexamer: AATAAA"
     polyA_site      2646
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="major polyA site"
     polyA_site      2840
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
ORIGIN      
        1 atggagatag gacgcagcaa ctcacagagc aaccaggacc cagaaatcgc ttaagagacc
       61 gcggcaaagt aacttaactg agttgccttc ttccatattt tcacgcccct ttcatccaga
      121 acattttttt tcttgaactg cttccatgga ggactcaacc tccccgaagc aagaaaaaga
      181 aaaccaagaa gaactagggg aaacaaggcg gccatgggaa ggaaagacag cagcttctcc
      241 ccaatattct gagcctgagt cgtctgagcc cttggaggcg aagcaggggc cagaaactgg
      301 acgccagtcc cgaagcagcc gtccttggag cccgcagtct agagccaaga cgcctctggg
      361 tggccccgcg ggaccagaaa catcatcacc tgctcctgtc tctccgcggg agccctcttc
      421 ctctccttct cccctggctc cggccagaca agacctcgcg gcaccacctc agtcggacag
      481 gaccacgagt gtgattcctg aagctgggac accttatcct gatcctttgg aacaatcatc
      541 tgataaaaga gaatcaactc ctcatcacac aagccagtca gaaggaaaca cctttcaaca
      601 gtctcagcaa cccaaacccc acctgtgtgg acgaagggac gtgagctata acaacgctaa
      661 acagaaagag ctgagatttg acgtttttca ggaggaagac tcaaacagtg actatgattt
      721 acagcagccg gcgcctgggg gctctgaagt ggcccccagc atgcttgaga tcaccattca
      781 gaatgctaag gcttacctgc tgaagactag cagcaattcg ggctttaatc tatatgatca
      841 tctttctaat atgttgacca agatattaaa tgagcgtcct gaaaatgctg ttgacatctt
      901 tgaaaatatt agccaagatg tgaagatggc acattttagt aaaaaatttg atgcactaca
      961 aaatgagaat gagttgcttc caacatatga aatagcagaa aagcaaaagg ctctttttct
     1021 ccagggacat ttggaaggag ttgaccaaga attggaagat gaaatagcag aaaacgctct
     1081 tccaaatgta atggagtcag ctttttattt tgaacaagct ggagttggtt tgggcacaga
     1141 tgagacatac cgcatatttc ttgccctcaa gcagcttact gatacccacc caatccaaag
     1201 atgccgcttc tggggaaaga tcttgggtct ggaaatgaat tatattgtag ctgaagtgga
     1261 atttcgtgag ggggaagatg aagaggaagt ggaagaggaa gatgtagctg aagagaggga
     1321 caatggagaa agtgaagctc atgaagatga ggaagatgaa ttaccaaagt ccttttacaa
     1381 ggccccacag gctataccaa aagaagaaag tagaacaggt gccaacaaat atgtctattt
     1441 tgtttgcaat gaaccaggaa gaccatgggt gaagttacca ccagttatac ctgcacaaat
     1501 tgttattgca agaaaaatca agaaattttt cactgggcga ttggatgctc ccatcataag
     1561 ctacccacct ttcccaggaa atgagagtaa ttatttacga gcacaaattg cccgaatttc
     1621 agcaggaacc cacgtcagtc ctctaggatt ttatcagttt ggtgaagagg aaggagagga
     1681 ggaggaagag gcagaaggtg ggcgaaatag ctttgaggaa aaccctgatt ttgaaggcat
     1741 ccaagtgatt gatctagtag aatccctatc caattgggtt catcatgtac agcatattct
     1801 ctctcagggt cgctgtaatt ggttcaactc catacaaaaa aatgaggaag aagaagagga
     1861 agaagatgaa gaaaaagacg attctgacta catagaacag gaagtggggc ttcctctttt
     1921 gacaccaatc tctgaagatt tagagattca gaatataccc ccctggacaa cacggttatc
     1981 ctcaaatctc attccacaat atgctattgc agtccttcaa tccaaccttt ggcctggagc
     2041 atatgccttc tccaatggca aaaagtttga aaatttctac ataggctggg gtcataagta
     2101 tagtccagac aattatacac ccccagttcc accaccagtt tatcaagaat accccagtgg
     2161 accagaaatt acagaaatgg atgatcctag tgtggaggag gagcaggctt tcagggctgc
     2221 acaagaagca gttctactcg cagctgagaa tgaagaatct gaggaagatg aagatgagga
     2281 agatgattat gactaataaa cataaaatta gcctggtttt atgtgacact gatacacaca
     2341 caccccttat atgggactaa ttttacactt ttctgtgtta tgtgtgtata tacatacaca
     2401 tgtaagaaat tattcaactg caaaatctca atcttgaaaa tcaagcttga aatttcatag
     2461 gtagaaatat tagcattttt attgaaagat actcacagga ttttccagag gctaaataac
     2521 atgcaattgc ataattgttc tgagggttat ggataatgga atatgtgttt gtacattcct
     2581 gtttttaaaa gggctcaggt ttcacatggt ccaggtgagg taaaacaatt aaaataaata
     2641 aataaatggt ctcaggttta atttgtaata cgacaaacac tggaagatat aacccacagg
     2701 aaattcttgg aaacatcaat actttttaaa gagtgtcaag gggtatgaag acaaaaaata
     2761 ttgatagtca ctagagtaat gtattcttaa cctttgtaag aactgatctc agcatgtatt
     2821 cttaaacctt tgtaattacc
//
