LOCUS       NM_032930               2193 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 300 (CFAP300),
            transcript variant 1, mRNA.
ACCESSION   NM_032930
VERSION     NM_032930.3
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 2193)
  AUTHORS   Zietkiewicz,E., Bukowy-Bieryllo,Z., Rabiasz,A., Daca-Roszak,P.,
            Wojda,A., Voelkel,K., Rutkiewicz,E., Pogorzelski,A., Rasteiro,M.
            and Witt,M.
  TITLE     CFAP300: Mutations in Slavic Patients with Primary Ciliary
            Dyskinesia and a Role in Ciliary Dynein Arms Trafficking
  JOURNAL   Am J Respir Cell Mol Biol 61 (4), 440-449 (2019)
   PUBMED   30916986
REFERENCE   2  (bases 1 to 2193)
  AUTHORS   Hoben,I.M., Hjeij,R., Olbrich,H., Dougherty,G.W., Nothe-Menchen,T.,
            Aprea,I., Frank,D., Pennekamp,P., Dworniczak,B., Wallmeier,J.,
            Raidt,J., Nielsen,K.G., Philipsen,M.C., Santamaria,F., Venditto,L.,
            Amirav,I., Mussaffi,H., Prenzel,F., Wu,K., Bakey,Z., Schmidts,M.,
            Loges,N.T. and Omran,H.
  TITLE     Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with
            Randomization of Left/Right Body Asymmetry Due to Defects of Outer
            and Inner Dynein Arms
  JOURNAL   Am J Hum Genet 102 (5), 973-984 (2018)
   PUBMED   29727693
  REMARK    GeneRIF: C11orf70 is a preassembly factor involved in the
            pathogenesis of Primary ciliary dyskinesia.
REFERENCE   3  (bases 1 to 2193)
  AUTHORS   Fassad,M.R., Shoemark,A., le Borgne,P., Koll,F., Patel,M.,
            Dixon,M., Hayward,J., Richardson,C., Frost,E., Jenkins,L.,
            Cullup,T., Chung,E.M.K., Lemullois,M., Aubusson-Fleury,A., Hogg,C.,
            Mitchell,D.R., Tassin,A.M. and Mitchison,H.M.
  TITLE     C11orf70 Mutations Disrupting the Intraflagellar
            Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause
            Primary Ciliary Dyskinesia
  JOURNAL   Am J Hum Genet 102 (5), 956-972 (2018)
   PUBMED   29727692
  REMARK    GeneRIF: C11orf70 is essential for assembly of dynein arms and
            C11orf70 mutations cause defective cilia motility and Primary
            ciliary dyskinesia.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001527.5, AK094851.1 and BG700929.1.
            
            On Nov 22, 2018 this sequence version replaced NM_032930.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform(1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.244274.1, AK094851.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000434758.7/ ENSP00000414390.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                AP001527.5         25766-25786
            22-218              AK094851.1         1-197
            219-219             BG700929.1         219-219
            220-2193            AK094851.1         199-2172
FEATURES             Location/Qualifiers
     source          1..2193
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.1"
     gene            1..2193
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /note="cilia and flagella associated protein 300"
                     /db_xref="GeneID:85016"
                     /db_xref="HGNC:HGNC:28188"
                     /db_xref="MIM:618058"
     exon            1..144
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..838
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncharacterized protein C11orf70; dynein axonemal assembly
                     factor 17"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 300
                     isoform 1"
                     /protein_id="NP_116319.2"
                     /db_xref="CCDS:CCDS8313.2"
                     /db_xref="GeneID:85016"
                     /db_xref="HGNC:HGNC:28188"
                     /db_xref="MIM:618058"
                     /translation="MATGELGDLGGYYFRFLPQKTFQSLSSKEITSRLRQWSMLGRIK
                     AQAFGFDQTFQSYRKDDFVMAFFKDPNVIPNLKLLSDSSGQWIILGTEVKKIEAINVP
                     CTQLSMSFFHRLYDEDIVRDSGHIVKCLDSFCDPFLISDELRRVLLVEDSEKYEIFSQ
                     PDREEFLFCLFKHLCLGGALCQYEDVISPYLETTKLIYKDLVSVRKNPQTKKIQITSS
                     VFKVSAYDSAGMCYPSAKNHEQTFSYFIVDPIRRHLHVLYHCYGVGDMS"
     exon            145..226
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /inference="alignment:Splign:2.1.0"
     exon            227..302
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /inference="alignment:Splign:2.1.0"
     exon            303..469
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /inference="alignment:Splign:2.1.0"
     exon            470..642
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /inference="alignment:Splign:2.1.0"
     exon            643..709
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /inference="alignment:Splign:2.1.0"
     exon            710..2193
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1038..1043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /note="hexamer: AATAAA"
     polyA_site      1058
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /note="major polyA site"
     regulatory      1199..1204
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /note="hexamer: ACTAAA"
     polyA_site      1226
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
     regulatory      2105..2110
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /note="hexamer: ATTAAA"
     polyA_site      2125
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
     regulatory      2175..2180
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
                     /note="hexamer: CATAAA"
     polyA_site      2193
                     /gene="CFAP300"
                     /gene_synonym="C11orf70; CILD38; DNAAF17; FBB5"
ORIGIN      
        1 aaacggccca ggcatccacc cagccgagag cacgatggct actggggagc tcggggactt
       61 gggtggctac tacttcaggt tcttgcctca gaaaaccttc cagtctctga gctctaagga
      121 gatcaccagc cggctccgcc agtggtccat gctgggcaga atcaaggcgc aggcgttcgg
      181 ctttgaccag acctttcagt cctatcggaa ggatgatttc gttatggctt ttttcaaaga
      241 cccaaatgtt attcccaatt tgaagttact ttcagattct tctggacaat ggatcatatt
      301 aggaactgaa gtgaaaaaaa ttgaagctat aaatgttcct tgcacacagc tttcaatgtc
      361 attttttcat cggttatatg atgaagatat tgtacgagac agtggacata ttgttaaatg
      421 tttagattct ttttgtgatc catttctcat ttctgatgag ttacgaagag ttttgctagt
      481 ggaagactca gaaaaatatg aaatattcag ccaaccagat agagaagagt tcctgttttg
      541 tcttttcaaa catctttgcc ttggtggagc cctttgtcaa tatgaggatg tgattagccc
      601 atatctggaa acaacaaagc ttatctataa ggatctggtg agtgttcgaa agaatcctca
      661 aaccaagaaa atacagatta cctcttctgt ctttaaagtt tcagcttatg attctgctgg
      721 tatgtgctat ccttcagcaa agaatcatga acagacattt tcttacttta ttgtggatcc
      781 tatcaggcgt caccttcatg ttttatacca ctgttatggt gtgggagaca tgtcttaatg
      841 ttctttcaga ttatgtacct ctactatttt gtatttatca tttttctatc ttaatactaa
      901 cttatagata aacatatact ttgcaaatta attcaagaaa aatgtaagga gcctacttag
      961 agcagaagaa agcaaacacc aagatgcctt tttaaaaatt tgtgtggaat actaaccggg
     1021 gatcaaattt catccataat aaaatctata ccaaaaaagt tgtggaattt ttacagaaag
     1081 ttacaaggaa ttagaaatct agttcatatt tgttgcattg tgattcaagt gaatcctcaa
     1141 ttttccatgt attttaattt ataagctaat taattatgga ttgaaaatgt agcagaaaac
     1201 taaacatgtc taccactgat cattaatatg aattgttagt ttatttaact tgtttcattt
     1261 aattacattt cttcattgca caagcgttta catctgtaaa gctaggcaaa gcataacaat
     1321 tcttttgctt catttgttcc acttataagc ctcagtaaag aagtaacgtt ctggggcctg
     1381 gcacggtggc tcacgcctgt aatctcagca ctttgggagg ccaaggcggg cggatcacga
     1441 ggtcaagaga tcgagaccat cctggccaac atggtgaaac cccgtctcta ccaaaagtac
     1501 aaaaattagc tggctgtggt ggtgtgtgcc tgtagtccca gctactcagg aggctgaggc
     1561 aagagaatca cttgaacccg ggaagtgagg ttgcagtgag ccgaggctgt gccactgtac
     1621 tctagctctg gcaacagagc aagactccgt ctcagaaaaa aaaaaggttc tgaaagtggt
     1681 tgtaaactct tgtatcacat aataaattaa aactgcagct gtcccacggc taatacaaga
     1741 gctacatgta aacagagaaa gttgcctgat ggcattagta agtcgttcaa agagtgagaa
     1801 gcaggttatc ttagtactgt tccttatttc attcatagaa tgaatgtata acctagattg
     1861 tttttggttt attttgatgg caaaaatcat tgacatatat cccatgggtc atgggaagcc
     1921 tgtaagaaat gttgaggttt gaggaggagc aagtttgaaa gatgtgtttc tgtgttgtgg
     1981 gataaagacg ataatcttgg acttgaacct ggatttgaat ctggaatgca gctggcaatt
     2041 tgggtataga gctcaggaga aagagtatgt tttacttcta atacctaaca caatgacttg
     2101 gcatattaaa tgtttattga atgaataact actttctaga tatcctcata atacccatag
     2161 atttttttaa attacataaa aacataaaat caa
//
