LOCUS       NM_145020               1824 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 53 (CFAP53),
            mRNA.
ACCESSION   NM_145020
VERSION     NM_145020.5
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 1824)
  AUTHORS   Andersen,J.S., Vijayakumaran,A., Godbehere,C., Lorentzen,E.,
            Mennella,V. and Schou,K.B.
  TITLE     Uncovering structural themes across cilia microtubule inner
            proteins with implications for human cilia function
  JOURNAL   Nat Commun 15 (1), 2687 (2024)
   PUBMED   38538594
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1824)
  AUTHORS   Gui,M., Croft,J.T., Zabeo,D., Acharya,V., Kollman,J.M.,
            Burgoyne,T., Hoog,J.L. and Brown,A.
  TITLE     SPACA9 is a lumenal protein of human ciliary singlet and doublet
            microtubules
  JOURNAL   Proc Natl Acad Sci U S A 119 (41), e2207605119 (2022)
   PUBMED   36191189
REFERENCE   3  (bases 1 to 1824)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1824)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1824)
  AUTHORS   Gur,M., Cohen,E.B., Genin,O., Fainsod,A., Perles,Z. and Cinnamon,Y.
  TITLE     Roles of the cilium-associated gene CCDC11 in left-right patterning
            and in laterality disorders in humans
  JOURNAL   Int J Dev Biol 61 (3-4-5), 267-276 (2017)
   PUBMED   28621423
  REMARK    GeneRIF: CCDC11 is a cilium-associated gene with a role in
            left-right patterning in Xenopus and in laterality disorders in
            humans
REFERENCE   6  (bases 1 to 1824)
  AUTHORS   Noel,E.S., Momenah,T.S., Al-Dagriri,K., Al-Suwaid,A.,
            Al-Shahrani,S., Jiang,H., Willekers,S., Oostveen,Y.Y., Chocron,S.,
            Postma,A.V., Bhuiyan,Z.A. and Bakkers,J.
  TITLE     A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations
            Reveals Its Specific Role in Laterality Organ Function
  JOURNAL   Hum Mutat 37 (2), 194-200 (2016)
   PUBMED   26531781
  REMARK    GeneRIF: Cfap53 is a conserved regulator of organ laterality in
            both humans and zebrafish.
REFERENCE   7  (bases 1 to 1824)
  AUTHORS   Silva,E., Betleja,E., John,E., Spear,P., Moresco,J.J., Zhang,S.,
            Yates,J.R. 3rd, Mitchell,B.J. and Mahjoub,M.R.
  TITLE     Ccdc11 is a novel centriolar satellite protein essential for
            ciliogenesis and establishment of left-right asymmetry
  JOURNAL   Mol Biol Cell 27 (1), 48-63 (2016)
   PUBMED   26538025
REFERENCE   8  (bases 1 to 1824)
  AUTHORS   Narasimhan,V., Hjeij,R., Vij,S., Loges,N.T., Wallmeier,J.,
            Koerner-Rettberg,C., Werner,C., Thamilselvam,S.K., Boey,A.,
            Choksi,S.P., Pennekamp,P., Roy,S. and Omran,H.
  TITLE     Mutations in CCDC11, which encodes a coiled-coil containing ciliary
            protein, causes situs inversus due to dysmotility of monocilia in
            the left-right organizer
  JOURNAL   Hum Mutat 36 (3), 307-318 (2015)
   PUBMED   25504577
  REMARK    GeneRIF: CCDC11 has a conserved essential function in cilia of the
            vertebrate left-right organizer during embryogenesis.
REFERENCE   9  (bases 1 to 1824)
  AUTHORS   Perles,Z., Cinnamon,Y., Ta-Shma,A., Shaag,A., Einbinder,T.,
            Rein,A.J. and Elpeleg,O.
  TITLE     A human laterality disorder associated with recessive CCDC11
            mutation
  JOURNAL   J Med Genet 49 (6), 386-390 (2012)
   PUBMED   22577226
  REMARK    GeneRIF: The authors suggest that CCDC11 is associated with
            autosomal recessive laterality defects of diverse phenotype
            resulting in SIT in one individual family member who is otherwise
            healthy, and in complex laterality anomalies (HS) in another
            member.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK302114.1 and BC030606.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_145020.4.
            
            Summary: This gene belongs to the CFAP53 family. It was found to be
            differentially expressed by the ciliated cells of frog epidermis
            and in skin fibroblasts from human. Mutations in this gene are
            associated with visceral heterotaxy-6, which implicates this gene
            in determination of left-right asymmetric patterning. [provided by
            RefSeq, Aug 2015].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030606.2, AK302114.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398545.5/ ENSP00000381553.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-970               AK302114.1         28-997
            971-1824            BC030606.2         971-1824
FEATURES             Location/Qualifiers
     source          1..1824
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     gene            1..1824
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /note="cilia and flagella associated protein 53"
                     /db_xref="GeneID:220136"
                     /db_xref="HGNC:HGNC:26530"
                     /db_xref="MIM:614759"
     exon            1..160
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..1636
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /note="coiled-coil domain containing 11"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 53"
                     /protein_id="NP_659457.2"
                     /db_xref="CCDS:CCDS11940.2"
                     /db_xref="GeneID:220136"
                     /db_xref="HGNC:HGNC:26530"
                     /db_xref="MIM:614759"
                     /translation="MYSQRFGTVQREVKGPTPKVVIVRSKPPKGQGAEHHLERIRRSH
                     QKHNAILASIKSSERDRLKAEWDQHNDCKILDSLVRARIKDAVQGFIINIEERRNKLR
                     ELLALEENEYFTEMQLKKETIEEKKDRMREKTKLLKEKNEKERQDFVAEKLDQQFRER
                     CEELRVELLSIHQKKVCEERKAQIAFNEELSRQKLVEEQMFSKLWEEDRLAKEKREAQ
                     EARRQKELMENTRLGLNAQITSIKAQRQATQLLKEEEARLVESNNAQIKHENEQDMLK
                     KQKAKQETRTILQKALQERIEHIQQEYRDEQDLNMKLVQRALQDLQEEADKKKQKRED
                     MIREQKIYHKYLAQRREEEKAQEKEFDRILEEDKAKKLAEKDKELRLEKEARRQLVDE
                     VMCTRKLQVQEKLQREAKEQEERAMEQKHINESLKELNCEEKENFARRQRLAQEYRKQ
                     LQMQIAYQQQSQEAEKEEKRREFEAGVAANKMCLDKVQEVLSTHQVLPQNIHPMRKAC
                     PSKLPP"
     exon            161..390
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /inference="alignment:Splign:2.1.0"
     exon            391..564
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /inference="alignment:Splign:2.1.0"
     exon            565..868
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /inference="alignment:Splign:2.1.0"
     exon            869..1087
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1304
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1407
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1824
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1718..1723
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /note="hexamer: GATAAA"
     polyA_site      1741
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
     regulatory      1779..1784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /note="hexamer: AATAAA"
     polyA_site      1824
                     /gene="CFAP53"
                     /gene_synonym="CCDC11; HTX6"
                     /note="major polyA site"
ORIGIN      
        1 agacttctgc gtcgcggaag cgggtcccgc aggtcgccac ggttggggga aacgcggcgg
       61 acgccgcccc cgtcccgaag gggactcgaa aatgtacagc cagcggtttg gcaccgtaca
      121 gcgggaggtt aagggcccca cccccaaagt ggtgatcgtg agatccaagc ctcctaaagg
      181 ccaaggagct gagcaccatc tagaaagaat ccgacgcagc catcagaagc ataatgctat
      241 tttggcttcc attaagtcaa gtgagcggga tcgcttgaaa gctgagtggg accagcacaa
      301 tgactgcaag attttggaca gccttgtgcg agcaagaatc aaggatgctg tgcaagggtt
      361 tatcattaac attgaagaaa gacgaaataa gctacgtgag cttttagcat tagaagaaaa
      421 tgagtatttt acagaaatgc aattgaagaa agaaaccatt gaggagaaaa aagataggat
      481 gagagagaaa actaaattac taaaagagaa gaatgaaaaa gagaggcagg attttgtggc
      541 tgaaaagcta gaccagcaat tcagggaacg ctgtgaggag ctccgtgttg aattgttatc
      601 tatccatcag aagaaggtgt gtgaggagcg gaaagcacag attgcattta atgaggagct
      661 gagcaggcaa aagctggtgg aagagcagat gttctccaaa ctctgggagg aagaccgatt
      721 agccaaggaa aagcgagaag cccaagaggc gaggagacag aaagagctga tggagaacac
      781 acgcctgggg ctgaatgccc agatcaccag catcaaggca caaaggcagg cgacacagct
      841 gctgaaggaa gaggaggcac gccttgtgga aagtaacaac gcacagatta aacatgagaa
      901 tgaacaggat atgctaaaga aacagaaggc aaagcaggaa actaggacca ttttgcaaaa
      961 agccctacaa gagaggatag aacatattca gcaggaatac agagacgaac aggacttgaa
     1021 catgaagctc gtgcaaaggg cccttcaaga cttacaggaa gaggcagata aaaagaaaca
     1081 aaaaagagaa gatatgataa gagaacagaa gatataccat aaatatttgg cacagagacg
     1141 tgaggaagaa aaagctcagg agaaagaatt tgacagaata ttagaggaag acaaggcaaa
     1201 gaagttggct gagaaggaca aggagctgag acttgaaaag gaggcaagga gacagcttgt
     1261 ggatgaggtc atgtgtacaa gaaaacttca agttcaagaa aagttgcaac gagaagctaa
     1321 agaacaggaa gaacgtgcta tggaacagaa acacataaat gaaagtctta aagaacttaa
     1381 ctgtgaagag aaggagaatt ttgcaagacg ccaacgttta gcccaggagt acaggaagca
     1441 acttcagatg caaatcgcct accagcagca gtcccaagaa gcagagaagg aagagaaacg
     1501 ccgagagttt gaagcaggtg tagcagcaaa caagatgtgt ttggacaagg tccaggaggt
     1561 cctgtccacc catcaagtgc tgcctcaaaa cattcatccc atgcgcaagg catgccccag
     1621 taagcttcca ccgtagttcc gtgagcatca atatatcttt tcttggtctt ttaatatttt
     1681 taactacagt atgcttgtat gcttctttta actcctggat aaacttttct tttttccctg
     1741 agtttgtgta attaattgaa cataattttc ttcctttgaa taaacctgtg cctattttgg
     1801 agttcacaga cttacaaatc caaa
//
