LOCUS       NM_021254               3516 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 298 (CFAP298),
            transcript variant 1, mRNA.
ACCESSION   NM_021254
VERSION     NM_021254.4
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 3516)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 3516)
  AUTHORS   Sternberg,J.R., Prendergast,A.E., Brosse,L., Cantaut-Belarif,Y.,
            Thouvenin,O., Orts-Del'Immagine,A., Castillo,L., Djenoune,L.,
            Kurisu,S., McDearmid,J.R., Bardet,P.L., Boccara,C., Okamoto,H.,
            Delmas,P. and Wyart,C.
  TITLE     Pkd2l1 is required for mechanoception in cerebrospinal
            fluid-contacting neurons and maintenance of spine curvature
  JOURNAL   Nat Commun 9 (1), 3804 (2018)
   PUBMED   30228263
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3516)
  AUTHORS   Cho,K.J., Noh,S.H., Han,S.M., Choi,W.I., Kim,H.Y., Yu,S., Lee,J.S.,
            Rim,J.H., Lee,M.G., Hildebrandt,F. and Gee,H.Y.
  TITLE     ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic
            pre-assembly of dynein arms
  JOURNAL   PLoS Genet 14 (3), e1007316 (2018)
   PUBMED   29601588
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3516)
  AUTHORS   Yamada,Y., Sakuma,J., Takeuchi,I., Yasukochi,Y., Kato,K., Oguri,M.,
            Fujimaki,T., Horibe,H., Muramatsu,M., Sawabe,M., Fujiwara,Y.,
            Taniguchi,Y., Obuchi,S., Kawai,H., Shinkai,S., Mori,S., Arai,T. and
            Tanaka,M.
  TITLE     Identification of C21orf59 and ATG2A as novel determinants of renal
            function-related traits in Japanese by exome-wide association
            studies
  JOURNAL   Oncotarget 8 (28), 45259-45273 (2017)
   PUBMED   28410202
REFERENCE   5  (bases 1 to 3516)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 3516)
  AUTHORS   Jaffe,K.M., Grimes,D.T., Schottenfeld-Roames,J., Werner,M.E.,
            Ku,T.S., Kim,S.K., Pelliccia,J.L., Morante,N.F., Mitchell,B.J. and
            Burdine,R.D.
  TITLE     c21orf59/kurly Controls Both Cilia Motility and Polarization
  JOURNAL   Cell Rep 14 (8), 1841-1849 (2016)
   PUBMED   26904945
REFERENCE   7  (bases 1 to 3516)
  AUTHORS   Austin-Tse,C., Halbritter,J., Zariwala,M.A., Gilberti,R.M.,
            Gee,H.Y., Hellman,N., Pathak,N., Liu,Y., Panizzi,J.R.,
            Patel-King,R.S., Tritschler,D., Bower,R., O'Toole,E., Porath,J.D.,
            Hurd,T.W., Chaki,M., Diaz,K.A., Kohl,S., Lovric,S., Hwang,D.Y.,
            Braun,D.A., Schueler,M., Airik,R., Otto,E.A., Leigh,M.W.,
            Noone,P.G., Carson,J.L., Davis,S.D., Pittman,J.E., Ferkol,T.W.,
            Atkinson,J.J., Olivier,K.N., Sagel,S.D., Dell,S.D., Rosenfeld,M.,
            Milla,C.E., Loges,N.T., Omran,H., Porter,M.E., King,S.M.,
            Knowles,M.R., Drummond,I.A. and Hildebrandt,F.
  TITLE     Zebrafish Ciliopathy Screen Plus Human Mutational Analysis
            Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary
            Dyskinesia
  JOURNAL   Am J Hum Genet 93 (4), 672-686 (2013)
   PUBMED   24094744
REFERENCE   8  (bases 1 to 3516)
  AUTHORS   Hu,Y.H., Warnatz,H.J., Vanhecke,D., Wagner,F., Fiebitz,A.,
            Thamm,S., Kahlem,P., Lehrach,H., Yaspo,M.L. and Janitz,M.
  TITLE     Cell array-based intracellular localization screening reveals novel
            functional features of human chromosome 21 proteins
  JOURNAL   BMC Genomics 7, 155 (2006)
   PUBMED   16780588
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3516)
  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 AK098577.1 and AP000275.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_021254.3.
            
            Summary: This gene encodes a protein that plays a critical role in
            dynein arm assembly and motile cilia function. Mutations in this
            gene result in primary ciliary dyskinesia. Naturally occuring
            readthrough transcription occurs from this locus to the downstream
            t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK223318.1, SRR3476690.258781.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290155.8/ ENSP00000290155.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                AK098577.1         232-280
            50-50               AP000275.1         34135-34135         c
            51-1196             AK098577.1         282-1427
            1197-3516           AP000275.1         21161-23480         c
FEATURES             Location/Qualifiers
     source          1..3516
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..3516
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /note="cilia and flagella associated protein 298"
                     /db_xref="GeneID:56683"
                     /db_xref="HGNC:HGNC:1301"
                     /db_xref="MIM:615494"
     exon            1..273
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /inference="alignment:Splign:2.1.0"
     CDS             135..1007
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /note="isoform 1 is encoded by transcript variant 1;
                     prostate cancer upregulated protein 1; UPF0769 protein
                     C21orf59; kurly homolog; protein kurly homolog; dynein
                     axonemal assembly factor 16"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 298
                     isoform 1"
                     /protein_id="NP_067077.1"
                     /db_xref="CCDS:CCDS13617.1"
                     /db_xref="GeneID:56683"
                     /db_xref="HGNC:HGNC:1301"
                     /db_xref="MIM:615494"
                     /translation="MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRL
                     CSEMEELAEHGIFLPPNMQGLTDDQIEELKLKDEWGEKCVPSGGAVFKKDDIGRRNGQ
                     APNEKMKQVLKKTIEEAKAIISKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPP
                     YDPIRMEFENKEDLSGTQAGLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIA
                     KIQQRGQGAPAREPIISSEEQKQLMLYYHRRQEELKRLEENDDDAYLNSPWADNTALK
                     RHFHGVKDIKWRPR"
     exon            274..441
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /inference="alignment:Splign:2.1.0"
     exon            442..509
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /inference="alignment:Splign:2.1.0"
     exon            510..668
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /inference="alignment:Splign:2.1.0"
     exon            669..800
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /inference="alignment:Splign:2.1.0"
     exon            801..896
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /inference="alignment:Splign:2.1.0"
     exon            897..3516
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1180..1185
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /note="hexamer: AATAAA"
     polyA_site      1195
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /note="major polyA site"
     polyA_site      1203
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /note="major polyA site"
     regulatory      2710..2715
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /note="hexamer: AATAAG"
     polyA_site      2737
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
     regulatory      2795..2800
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /note="hexamer: AAGAAA"
     polyA_site      2811
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
     regulatory      3493..3498
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
                     /note="hexamer: AATAAA"
     polyA_site      3516
                     /gene="CFAP298"
                     /gene_synonym="C21orf48; C21orf59; CILD26; DNAAF16; FBB18;
                     Kur"
ORIGIN      
        1 agcgtgggat tccggactgt gagcggctgt tagtgcgtcg cagctgctgg cgatccggcg
       61 accctcggcc ggcaggaccc gcgggccacg cagccggggc cttctcaacg cctcagtacc
      121 tcggcgggac cgccatggtt ctgctgcacg tgaagcgggg cgacgagagc cagttcctgc
      181 tgcaggcgcc tgggagtacc gagctggagg agctcacggt gcaggtggcc cgggtctata
      241 atgggcggct caaggtgcag cgcctctgct cagaaatgga agaattagcc gaacatggca
      301 tatttctccc tcctaatatg caaggactga ccgatgatca gattgaagaa ttgaaattga
      361 aggatgaatg gggtgaaaaa tgcgtaccca gcggaggtgc agtgtttaaa aaggatgata
      421 ttggacgaag gaatgggcaa gctccaaatg agaagatgaa gcaagtgtta aagaagacta
      481 tagaagaagc caaagcaata atatctaaga aacaagtgga agccggtgtc tgtgttacca
      541 tggagatggt gaaagatgcc ttggaccagc ttcgaggcgc ggtgatgatt gtttacccca
      601 tggggttgcc accgtatgat cccatccgca tggagtttga aaataaggaa gacttgtcgg
      661 gaacacaggc agggctcaac gtcattaaag aggcagaggc gcagctgtgg tgggcagcca
      721 aggagctgag aagaacgaag aagctttcag actacgtggg gaagaatgaa aaaaccaaaa
      781 ttatcgccaa gattcagcaa aggggacagg gagctccagc ccgagagcct attattagca
      841 gtgaggagca gaagcagctg atgctgtact atcacagaag acaagaggag ctcaagagat
      901 tggaagaaaa tgatgatgat gcctatttaa actcaccatg ggcggataac actgctttga
      961 aaagacattt tcatggagtg aaagacataa agtggagacc aagatgaagt tcaccagctg
     1021 atgacacttc caaagagatt agctcacctt tctcctaggc aattataatt taaaaaaaaa
     1081 aaaaaggcca cttactgccc tctgtaaaag atgttaacat ttctagtttt cttttagtgt
     1141 gaatttttaa aatagcagtt attcaaggtt ttagaactta ataaatacct agtcagaaga
     1201 aaatgtgtaa atcgtttttg tttcaggact atttagtatg tcatggtttt ctttgataaa
     1261 atactaaact tttggccggg cgcggtggct cacgcctgta atcccagcac tttgggaggc
     1321 cgaggcaggc agatcacgag gtcaggagat caagaccatc caggctaaca cggtgaaacc
     1381 ccgtctctac taaaaataca aaaaattagc cgggcatggt ggcaggcgcc tgtagtccca
     1441 gctactcggg aggctgaggc aggagaatgg cgtgaacccg ggaggtggag cttacagtga
     1501 gccaagatca ctgccactgc actctatcct gggcaacaga gcgaaactct tgtctcaaaa
     1561 aaaaaaaaaa aaaaaaaaaa agctacactt ttttttcttc ctgattgttt tatattctca
     1621 tgataactgg tttattggag gaaagctgat gactggcagt gaccactagt gaccactaga
     1681 tgccgccagg cactcagcat gctttttctc ctggccctct agatctattg gaagctgaac
     1741 tcccagcctt gctggagaga cttctctaac cctgctgcgg ggtctaactg tagccttctt
     1801 taaccctgct gcggggtcta actgtagcct tctttaaccc tgctgcgggg tctaactgta
     1861 gccaggcgtt gcctggcctt gaaggtgaag tttgcctcct ggttggtgcc tctctggcct
     1921 tgtattctgg gagcgaaagc tacaaccatg atgaaggttg agtagcaaac tcatctgact
     1981 ttgaaactta aattcttctg gagtttctca gcttctcaag tctccttcat gagaatagat
     2041 cctgaaaaca aatccagatc ccggtagagg gtgatgattt ctccctatgg atgcggggtc
     2101 tgattctagg ccagcttcgt acgcagctca gtgaccaacc acgggatgga tgggatcact
     2161 atcatcctaa ctgagtatct aggacaccat tgagtttaaa gactccaact catcatcact
     2221 gtaaaccatc caagtatcct gcaaaccctg gcactttagc atctgaaaga cacctgccag
     2281 actgcctgtg gcagtccctc atgcttgact tttggtgcct agggtcctgt tctcctggtt
     2341 agagggaact tggtgtgctc acactgaggg aaagtgaagg acgcggggca tcttcctgcc
     2401 ctggccttcc tgccttggtg cctgcgctcc ccaccatcct gcaaagagga accctgggag
     2461 tgagtggagg tggcaggggt ttggttcctg cctgctgcca ggcggccttg cccagggggt
     2521 gggtcccaga cctgagagca aagcgctgtt ctctgaagtg ctttgtagct gactgcatct
     2581 tgtgccttac tcttttggtt gattttcaaa ttttgtaaaa gcaaatttgc atctattttc
     2641 tcttttactt ggttatagtt ttaaatgtct ctatgaaagg gttttgacct tggatgatgt
     2701 agtatatgca ataagatgct gtgattttat ttcaggagca tcctgtcttt gtcagtgtat
     2761 agttcgtgtg tgttaaattc atgctcagac ttgtaagaaa cagttaacca agccatgtga
     2821 tcatagtagc tcttttcagg gaactactac ttcaatatca ttagaaagtc ttactgagcc
     2881 tgcagtagga atactctttt ggccgtgata gttatcccat tgcttcatgt aatcagcaga
     2941 acttactaac caaaaagtca ctcacgcatg acactacact ccttaaatac ccatgcgaga
     3001 agaaccatcc tctctccctg cccttgtctg cctcaaaagc ctctctgagc ttggtgtgtt
     3061 tgggtgcagc agatctcagg aagtacgtga gtagcttatt tgcaagccat ctgtgacggc
     3121 ggggggcagg tggtgcccgc tgtggcaccg tgctgtgtgt gttccctttg catccacttg
     3181 ctgactcacc caaggtcaca ggtagctagt ggtggtagga ccacagggtc acgtccagga
     3241 actttcccag gatttcccaa gaaatcaatt tatcaacaaa agtaatcttg ccagtgttag
     3301 accactgatc agcttaagtc tgtggtcttg ttgttatttt cttctttttt taatccagtc
     3361 cctgtttgag tcaatatcaa aaggaaacca agtgtctgct gtatgcacgg tgcccatcta
     3421 ggtctgtggt tttgtccttt gacataactt gtcttcttat gtggttcttt catggagacc
     3481 aggaatgcta gtaataaaat ttgataccac ctaaaa
//
