LOCUS       NM_178821               1683 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens dynein assembly factor with WD repeats 1 (DAW1),
            transcript variant 1, mRNA.
ACCESSION   NM_178821
VERSION     NM_178821.3
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 1683)
  AUTHORS   Leslie,J.S., Hjeij,R., Vivante,A., Bearce,E.A., Dyer,L., Wang,J.,
            Rawlins,L., Kennedy,J., Ubeyratna,N., Fasham,J., Irons,Z.H.,
            Craig,S.B., Koenig,J., George,S., Pode-Shakked,B., Bolkier,Y.,
            Barel,O., Mane,S., Frederiksen,K.K., Wenger,O., Scott,E.,
            Cross,H.E., Lorentzen,E., Norris,D.P., Anikster,Y., Omran,H.,
            Grimes,D.T., Crosby,A.H. and Baple,E.L.
  TITLE     Biallelic DAW1 variants cause a motile ciliopathy characterized by
            laterality defects and subtle ciliary beating abnormalities
  JOURNAL   Genet Med 24 (11), 2249-2261 (2022)
   PUBMED   36074124
  REMARK    GeneRIF: Biallelic DAW1 variants cause a motile ciliopathy
            characterized by laterality defects and subtle ciliary beating
            abnormalities.
REFERENCE   2  (bases 1 to 1683)
  AUTHORS   Wang,J., Taschner,M., Petriman,N.A., Andersen,M.B., Basquin,J.,
            Bhogaraju,S., Vetter,M., Wachter,S., Lorentzen,A. and Lorentzen,E.
  TITLE     Purification and crystal structure of human ODA16: Implications for
            ciliary import of outer dynein arms by the intraflagellar transport
            machinery
  JOURNAL   Protein Sci 29 (6), 1502-1510 (2020)
   PUBMED   32239748
  REMARK    GeneRIF: Purification and crystal structure of human ODA16:
            Implications for ciliary import of outer dynein arms by the
            intraflagellar transport machinery.
REFERENCE   3  (bases 1 to 1683)
  AUTHORS   Hom,E.F., Witman,G.B., Harris,E.H., Dutcher,S.K., Kamiya,R.,
            Mitchell,D.R., Pazour,G.J., Porter,M.E., Sale,W.S., Wirschell,M.,
            Yagi,T. and King,S.M.
  TITLE     A unified taxonomy for ciliary dyneins
  JOURNAL   Cytoskeleton (Hoboken) 68 (10), 555-565 (2011)
   PUBMED   21953912
REFERENCE   4  (bases 1 to 1683)
  AUTHORS   Gao,C., Wang,G., Amack,J.D. and Mitchell,D.R.
  TITLE     Oda16/Wdr69 is essential for axonemal dynein assembly and ciliary
            motility during zebrafish embryogenesis
  JOURNAL   Dev Dyn 239 (8), 2190-2197 (2010)
   PUBMED   20568242
REFERENCE   5  (bases 1 to 1683)
  AUTHORS   Ahmed,N.T., Gao,C., Lucker,B.F., Cole,D.G. and Mitchell,D.R.
  TITLE     ODA16 aids axonemal outer row dynein assembly through an
            interaction with the intraflagellar transport machinery
  JOURNAL   J Cell Biol 183 (2), 313-322 (2008)
   PUBMED   18852297
REFERENCE   6  (bases 1 to 1683)
  AUTHORS   Ahmed,N.T. and Mitchell,D.R.
  TITLE     ODA16p, a Chlamydomonas flagellar protein needed for dynein
            assembly
  JOURNAL   Mol Biol Cell 16 (10), 5004-5012 (2005)
   PUBMED   16093345
  REMARK    GeneRIF: This paper describes a Chlamydmonas reinhardtii protein
            with 70% similarity to human WD repeat domain 69 protein. The
            protein is expressed in flagella and required for assembly of the
            flagellar outer row dynein ATPase, though it is not a dynein
            subunit.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK097409.1 and BM981084.1.
            
            On Nov 22, 2018 this sequence version replaced NM_178821.2.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.209086.1,
                                           SRR5189667.279661.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309931.3/ ENSP00000311899.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1677              AK097409.1         21-1697
            1678-1683           BM981084.1         16-21               c
FEATURES             Location/Qualifiers
     source          1..1683
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.3"
     gene            1..1683
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /note="dynein assembly factor with WD repeats 1"
                     /db_xref="GeneID:164781"
                     /db_xref="HGNC:HGNC:26383"
                     /db_xref="MIM:620279"
     exon            1..99
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..1307
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /note="isoform 1 is encoded by transcript variant 1; outer
                     row dynein assembly 16 homolog; WD repeat-containing
                     protein 69; outer row dynein assembly protein 16 homolog;
                     WD repeat domain 69; dynein assembly factor with WDR
                     repeat domains 1; testis tissue sperm-binding protein Li
                     93mP; dynein axonemal assembly factor 18; dynein assembly
                     factor with WD repeat domains 1"
                     /codon_start=1
                     /product="dynein assembly factor with WD repeat domains 1
                     isoform 1"
                     /protein_id="NP_849143.1"
                     /db_xref="CCDS:CCDS2470.1"
                     /db_xref="GeneID:164781"
                     /db_xref="HGNC:HGNC:26383"
                     /db_xref="MIM:620279"
                     /translation="MKLKSLLLRYYPPGIMLEYEKHGELKTKSIDLLDLGPSTDVSAL
                     VEEIQKAEPLLTASRTEQVKLLIQRLQEKLGQNSNHTFYLFKVLKAHILPLTNVALNK
                     SGSCFITGSYDRTCKLWDTASGEELNTLEGHRNVVYAIAFNNPYGDKIATGSFDKTCK
                     LWSVETGKCYHTFRGHTAEIVCLSFNPQSTLVATGSMDTTAKLWDIQNGEEVYTLRGH
                     SAEIISLSFNTSGDRIITGSFDHTVVVWDADTGRKVNILIGHCAEISSASFNWDCSLI
                     LTGSMDKTCKLWDATNGKCVATLTGHDDEILDSCFDYTGKLIATASADGTARIFSAAT
                     RKCIAKLEGHEGEISKISFNPQGNHLLTGSSDKTARIWDAQTGQCLQVLEGHTDEIFS
                     CAFNYKGNIVITGSKDNTCRIWR"
     exon            100..172
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     exon            173..317
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     exon            318..376
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     exon            377..499
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     exon            500..599
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     exon            600..707
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     exon            708..814
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     exon            815..917
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1032
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1109
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1272
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1683
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1664..1669
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /note="hexamer: AATAAA"
     polyA_site      1683
                     /gene="DAW1"
                     /gene_synonym="CILD52; DNAAF18; ODA16; WDR69"
                     /note="major polyA site"
ORIGIN      
        1 gctgtttagc cgtttccaag gctacgaagc ccatcggccg gggataagag agcaagaaaa
       61 tgaagctcaa gagcctcctg ctccggtatt acccgccagg aattatgttg gaatatgaaa
      121 aacatggaga attaaagact aagtccatag atttgcttga tcttggtccc agcactgatg
      181 tcagtgcgtt agtagaagaa atccagaagg cagaacctct actcacagct tcacgaacag
      241 agcaagtcaa acttttgata cagaggttgc aagagaaact cggccagaac agcaatcaca
      301 cgttctatct ttttaaggtt ctcaaagcac atatattgcc actgactaat gttgcactta
      361 acaaatcggg ctcatgcttt atcacaggaa gctatgatcg gacgtgcaag ctctgggaca
      421 ctgcgtctgg agaggagctg aacacgctgg agggccacag gaatgtggtt tatgccatag
      481 cattcaacaa tccttacggt gacaaaatcg ccactgggtc ctttgataaa acttgtaaac
      541 tctggagtgt ggaaacagga aaatgttacc ataccttcag gggtcataca gcagaaatag
      601 tgtgtttatc atttaaccct caaagcacat tggtggcgac tggaagtatg gacacaacag
      661 ccaaattgtg ggacattcag aatggcgagg aagtttacac cttaagagga cattctgccg
      721 aaatcatctc cttgtcattt aacacctcag gagacagaat catcacgggg tcttttgatc
      781 ataccgttgt agtgtgggac gctgatactg gaaggaaggt aaatatctta attggtcatt
      841 gtgctgagat tagcagtgcc tcattcaatt gggattgctc tctaatatta actggctcta
      901 tggacaaaac ctgcaagctg tgggatgcta caaatggaaa atgtgtggca accttaacag
      961 gccatgatga tgaaatacta gacagctgct ttgattacac tggaaagctt attgcaactg
     1021 cttcagctga tggaacagca agaattttca gtgctgccac aagaaaatgc attgccaaac
     1081 tggaaggtca tgaaggtgaa atttcaaaga tttctttcaa ccctcaaggg aaccatcttc
     1141 taactggcag ctctgacaaa acggctagaa tctgggatgc tcagactggc cagtgcctcc
     1201 aggttcttga ggggcacact gatgaaatct tttcatgtgc tttcaactat aaaggcaaca
     1261 tagtcattac aggcagcaag gataatacct gtaggatatg gcgttgactg aaggaagctg
     1321 gtcagtgagc aaccttgcta gcaatggtaa tcaagaactg gaacttcaca gacagcagct
     1381 ctcttaatat ttcttatact ttctcttttt ctgcaagtca actatttcta caactgtcct
     1441 tcatttcaca gatatgacca ttaaacatga caaagttatg ccactccaat attattattt
     1501 gatggcgatg gcaggacaca gcataatgtt tggctaatgc caccagttat ttcagttgtg
     1561 tttgtttttt aaaagcatta tgatactgaa aaaggagacc agaacaactt aacaacgtgt
     1621 ctcctggatt ttactttgaa gcctattgtt ataatttctg ttgaataaag tgtttggagg
     1681 aaa
//
