LOCUS       NM_130810               1993 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens dynein axonemal assembly factor 4 (DNAAF4), transcript
            variant 1, mRNA.
ACCESSION   NM_130810 XM_005254197
VERSION     NM_130810.4
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 1993)
  AUTHORS   Rinne,N., Wikman,P., Sahari,E., Salmi,J., Einarsdottir,E., Kere,J.
            and Alho,K.
  TITLE     Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and
            NRSN1 are associated with brain function in fluently reading
            adolescents and young adults
  JOURNAL   Cereb Cortex 34 (4) (2024)
   PUBMED   38610086
  REMARK    GeneRIF: Developmental dyslexia susceptibility genes DNAAF4, DCDC2,
            and NRSN1 are associated with brain function in fluently reading
            adolescents and young adults.
REFERENCE   2  (bases 1 to 1993)
  AUTHORS   Zhu,X., Chen,C., Song,J., Dong,S., Zeng,X., Niu,Z., Sha,Y. and
            Zhang,X.
  TITLE     A novel homozygous splice variant in DNAAF4 is associated with
            asthenozoospermia
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 55 (10), 1689-1692 (2023)
   PUBMED   37674365
  REMARK    GeneRIF: A novel homozygous splice variant in DNAAF4 is associated
            with asthenozoospermia.
REFERENCE   3  (bases 1 to 1993)
  AUTHORS   Zhou,L., Li,Z., Du,C., Chen,C., Sun,Y., Gu,L., Zhou,F. and Song,Y.
  TITLE     Novel dynein axonemal assembly factor 1 mutations identified using
            whole-exome sequencing in patients with primary ciliary dyskinesia
  JOURNAL   Mol Med Rep 22 (6), 4707-4715 (2020)
   PUBMED   33174003
  REMARK    GeneRIF: Novel dynein axonemal assembly factor 1 mutations
            identified using wholeexome sequencing in patients with primary
            ciliary dyskinesia.
REFERENCE   4  (bases 1 to 1993)
  AUTHORS   Massinen,S., Tammimies,K., Tapia-Paez,I., Matsson,H.,
            Hokkanen,M.E., Soderberg,O., Landegren,U., Castren,E.,
            Gustafsson,J.A., Treuter,E. and Kere,J.
  TITLE     Functional interaction of DYX1C1 with estrogen receptors suggests
            involvement of hormonal pathways in dyslexia
  JOURNAL   Hum Mol Genet 18 (15), 2802-2812 (2009)
   PUBMED   19423554
  REMARK    GeneRIF: DYX1C1 interacts with both ERs in the presence of
            17beta-estradiol in neurons.
REFERENCE   5  (bases 1 to 1993)
  AUTHORS   Wang,Y., Paramasivam,M., Thomas,A., Bai,J., Kaminen-Ahola,N.,
            Kere,J., Voskuil,J., Rosen,G.D., Galaburda,A.M. and Loturco,J.J.
  TITLE     DYX1C1 functions in neuronal migration in developing neocortex
  JOURNAL   Neuroscience 143 (2), 515-522 (2006)
   PUBMED   16989952
  REMARK    GeneRIF: Functional characterization of the homologous rat protein.
REFERENCE   6  (bases 1 to 1993)
  AUTHORS   Cope,N.A., Hill,G., van den Bree,M., Harold,D., Moskvina,V.,
            Green,E.K., Owen,M.J., Williams,J. and O'Donovan,M.C.
  TITLE     No support for association between dyslexia susceptibility 1
            candidate 1 and developmental dyslexia
  JOURNAL   Mol Psychiatry 10 (3), 237-238 (2005)
   PUBMED   15477871
  REMARK    GeneRIF: DYX1C1 is unlikely to be a susceptibility gene for
            developmental dyslexia
REFERENCE   7  (bases 1 to 1993)
  AUTHORS   Ylisaukko-Oja,T., Peyrard-Janvid,M., Lindgren,C.M., Rehnstrom,K.,
            Vanhala,R., Peltonen,L., Jarvela,I. and Kere,J.
  TITLE     Family-based association study of DYX1C1 variants in autism
  JOURNAL   Eur J Hum Genet 13 (1), 127-130 (2005)
   PUBMED   15470369
  REMARK    GeneRIF: Thus it seems unlikely that DYX1C1 gene would be involved
            in the genetic etiology of autism in Finnish patients.
REFERENCE   8  (bases 1 to 1993)
  AUTHORS   Wigg,K.G., Couto,J.M., Feng,Y., Anderson,B., Cate-Carter,T.D.,
            Macciardi,F., Tannock,R., Lovett,M.W., Humphries,T.W. and Barr,C.L.
  TITLE     Support for EKN1 as the susceptibility locus for dyslexia on 15q21
  JOURNAL   Mol Psychiatry 9 (12), 1111-1121 (2004)
   PUBMED   15249932
  REMARK    GeneRIF: Findings provide support for EKN1 as a risk locus for
            dyslexia and as contributing to reading component processes and
            reading-related abilities.
REFERENCE   9  (bases 1 to 1993)
  AUTHORS   Taipale,M., Kaminen,N., Nopola-Hemmi,J., Haltia,T., Myllyluoma,B.,
            Lyytinen,H., Muller,K., Kaaranen,M., Lindsberg,P.J.,
            Hannula-Jouppi,K. and Kere,J.
  TITLE     A candidate gene for developmental dyslexia encodes a nuclear
            tetratricopeptide repeat domain protein dynamically regulated in
            brain
  JOURNAL   Proc Natl Acad Sci U S A 100 (20), 11553-11558 (2003)
   PUBMED   12954984
  REMARK    GeneRIF: DYX1C1 should be regarded as a candidate gene for
            developmental dyslexia and localizes to a fraction of cortical
            neurons and white matter glial cells
REFERENCE   10 (bases 1 to 1993)
  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 AF337549.1, AK095201.1 and
            BC017392.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_130810.3.
            
            Summary: This gene encodes a tetratricopeptide repeat
            domain-containing protein. The encoded protein interacts with
            estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An
            homologous protein in rat has been shown to function in neuronal
            migration in the developing neocortex. A chromosomal translocation
            involving this gene is associated with a susceptibility to
            developmental dyslexia. Mutations in this gene are associated with
            deficits in reading and spelling. Alternative splicing results in
            multiple transcript variants. Read-through transcription also
            exists between this gene and the downstream cell cycle progression
            1 (CCPG1) gene. [provided by RefSeq, Mar 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: AF337549.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321149.7/ ENSP00000323275.3
            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
            1-939               AF337549.1         1-939
            940-1005            AK095201.1         614-679
            1006-1631           AF337549.1         1006-1631
            1632-1993           BC017392.1         1211-1572
FEATURES             Location/Qualifiers
     source          1..1993
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     gene            1..1993
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /note="dynein axonemal assembly factor 4"
                     /db_xref="GeneID:161582"
                     /db_xref="HGNC:HGNC:21493"
                     /db_xref="MIM:608706"
     exon            1..113
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /inference="alignment:Splign:2.1.0"
     exon            114..491
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /inference="alignment:Splign:2.1.0"
     CDS             369..1631
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /note="isoform a is encoded by transcript variant 1;
                     dyslexia susceptibility 1 candidate gene 1 protein;
                     dyslexia susceptibility 1 candidate 1; dynein assembly
                     factor 4, axonemal"
                     /codon_start=1
                     /product="dynein axonemal assembly factor 4 isoform a"
                     /protein_id="NP_570722.2"
                     /db_xref="CCDS:CCDS10154.1"
                     /db_xref="GeneID:161582"
                     /db_xref="HGNC:HGNC:21493"
                     /db_xref="MIM:608706"
                     /translation="MPLQVSDYSWQQTKTAVFLSLPLKGVCVRDTDVFCTENYLKVNF
                     PPFLFEAFLYAPIDDESSKAKIGNDTIVFTLYKKEAAMWETLSVTGVDKEMMQRIREK
                     SILQAQERAKEATEAKAAAKREDQKYALSVMMKIEEEERKKIEDMKENERIKATKALE
                     AWKEYQRKAEEQKKIQREEKLCQKEKQIKEERKKIKYKSLTRNLASRNLAPKGRNSEN
                     IFTEKLKEDSIPAPRSVGSIKINFTPRVFPTALRESQVAEEEEWLHKQAEARRAMNTD
                     IAELCDLKEEEKNPEWLKDKGNKLFATENYLAAINAYNLAIRLNNKMPLLYLNRAACH
                     LKLKNLHKAIEDSSKALELLMPPVTDNANARMKAHVRRGTAFCQLELYVEGLQDYEAA
                     LKIDPSNKIVQIDAEKIRNVIQGTELKS"
     exon            492..639
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /inference="alignment:Splign:2.1.0"
     exon            640..773
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /inference="alignment:Splign:2.1.0"
     exon            774..1005
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1151
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1261
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /inference="alignment:Splign:2.1.0"
     exon            1262..1415
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /inference="alignment:Splign:2.1.0"
     exon            1416..1521
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /inference="alignment:Splign:2.1.0"
     exon            1522..1993
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1974..1979
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /note="hexamer: AATAAA"
     polyA_site      1993
                     /gene="DNAAF4"
                     /gene_synonym="CILD25; DYX1; DYX1C1; DYXC1; EKN1; pf23;
                     RD"
                     /note="major polyA site"
ORIGIN      
        1 tcctctccta ttatgcaaac ccacaccatg gatccagcag actactctgg ccccagcatg
       61 ctgctccttg ggatgatggg agaaggggga aacctgtgtt ttctcttggt tttagggtat
      121 gggtctactt ctttgaacat tcgctcagat cgtaaggtaa ccccaagaat cggcatcact
      181 ctctggtctg ggcgcctgga tagtcacgca tggagtccgc gaggtgctgg cgccggagca
      241 cgctgggaac gccgggctcc cggccggcct gacccggaag ggctggcgca tggtaacccc
      301 agcttcccta gcaaccaagc aggcgcaaga agcaaccagc cgcgctatcc gctcccgttg
      361 ctaccggaat gcctcttcag gttagcgatt acagctggca gcagacgaag actgcggtct
      421 ttctgtctct gcccctcaaa ggcgtgtgcg tcagagacac ggacgtgttc tgcacggaaa
      481 actatctgaa ggtcaacttt cctccatttt tatttgaggc atttctttat gctcccatag
      541 acgatgagag cagcaaagca aagattggga atgacaccat tgtcttcacc ttgtataaaa
      601 aagaagcggc catgtgggag accctttctg tgacgggtgt tgacaaagag atgatgcaaa
      661 gaattagaga aaaatctatt ttacaagcac aagagagagc aaaagaagct acagaagcaa
      721 aagctgcagc aaagcgggaa gatcaaaaat acgcactaag tgtcatgatg aagattgaag
      781 aagaagagag gaaaaaaata gaagatatga aagaaaatga acggataaaa gccactaaag
      841 cattggaagc ctggaaagaa tatcaaagaa aagctgagga gcaaaaaaaa attcagagag
      901 aagagaaatt atgtcaaaaa gaaaagcaaa ttaaagaaga aagaaaaaaa ataaaatata
      961 agagtcttac tagaaatttg gcatctagaa atcttgctcc aaaagggaga aattcagaaa
     1021 atatatttac tgagaagtta aaggaagaca gtattcctgc tcctcgctct gttggcagta
     1081 ttaaaatcaa ctttacccct cgagtattcc caacagctct tcgtgaatca caagtagcag
     1141 aagaggagga gtggctacac aaacaagctg aggcacgaag agcaatgaat actgacatag
     1201 ctgaactttg cgatttaaaa gaagaagaaa agaacccaga atggttgaag gataaaggaa
     1261 acaaattgtt tgcaacggaa aactatttgg cagctatcaa tgcatataat ttagccataa
     1321 gactaaataa taagatgcca ctattgtatt tgaaccgggc tgcttgccac ctaaaactaa
     1381 aaaacttaca caaggctatt gaagattctt ctaaggcact ggaattattg atgccacctg
     1441 ttacagacaa tgctaatgca agaatgaagg cacatgtacg acgtggaaca gcattctgtc
     1501 aactagaatt gtatgtagaa ggcctacagg attatgaagc ggcacttaag attgatccat
     1561 ccaacaaaat tgtacaaatt gatgctgaga agattcggaa tgtaattcaa ggaacagaac
     1621 taaaatctta atgactatta gaagtaacta agtattgtta taagtttttt aaaaacaact
     1681 ggaggcatct ttgtacatat tatggccagt tgtacagaat cgctttctgt ttagtacttt
     1741 agttctgttg agggcaaaat attataaatc tatagaaaat aaactgtttg acttgaatca
     1801 tttctgaata agtaaatcta aataagaatc tattttaatt ccttatttct tcatattaat
     1861 acatatgtat acttttttgt gttactgaat taagcttgcc cttgtaacaa aatatgtttt
     1921 ggtatagtta ccaggacact tactgattaa tttttaacaa ggtagaattt taaaataaaa
     1981 gatttataaa taa
//
