LOCUS       NM_001367801            3705 bp    mRNA    linear   PRI 13-APR-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 70 (CFAP70),
            transcript variant 4, mRNA.
ACCESSION   NM_001367801
VERSION     NM_001367801.1
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 3705)
  AUTHORS   Dacheux,D., Martinez,G., Broster Reix,C.E., Beurois,J., Lores,P.,
            Tounkara,M., Dupuy,J.W., Robinson,D.R., Loeuillet,C., Lambert,E.,
            Wehbe,Z., Escoffier,J., Amiri-Yekta,A., Daneshipour,A.,
            Hosseini,S.H., Zouari,R., Mustapha,S.F.B., Halouani,L., Jiang,X.,
            Shen,Y., Liu,C., Thierry-Mieg,N., Septier,A., Bidart,M., Satre,V.,
            Cazin,C., Kherraf,Z.E., Arnoult,C., Ray,P.F., Toure,A.,
            Bonhivers,M. and Coutton,C.
  TITLE     Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and
            is required for male fertility and flagellum function
  JOURNAL   Elife 12, 87698 (2023)
   PUBMED   37934199
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3705)
  AUTHORS   Hou,Y., Zhao,L., Kubo,T., Cheng,X., McNeill,N., Oda,T. and
            Witman,G.B.
  TITLE     Chlamydomonas FAP70 is a component of the previously
            uncharacterized ciliary central apparatus projection C2a
  JOURNAL   J Cell Sci 134 (12) (2021)
   PUBMED   33988244
REFERENCE   3  (bases 1 to 3705)
  AUTHORS   Beurois,J., Martinez,G., Cazin,C., Kherraf,Z.E., Amiri-Yekta,A.,
            Thierry-Mieg,N., Bidart,M., Petre,G., Satre,V., Brouillet,S.,
            Toure,A., Arnoult,C., Ray,P.F. and Coutton,C.
  TITLE     CFAP70 mutations lead to male infertility due to severe
            astheno-teratozoospermia. A case report
  JOURNAL   Hum Reprod 34 (10), 2071-2079 (2019)
   PUBMED   31621862
  REMARK    GeneRIF: CFAP70 mutations lead to male infertility due to severe
            astheno-teratozoospermia. A case report.
REFERENCE   4  (bases 1 to 3705)
  AUTHORS   Shamoto,N., Narita,K., Kubo,T., Oda,T. and Takeda,S.
  TITLE     CFAP70 Is a Novel Axoneme-Binding Protein That Localizes at the
            Base of the Outer Dynein Arm and Regulates Ciliary Motility
  JOURNAL   Cells 7 (9), 124 (2018)
   PUBMED   30158508
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3705)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL512656.16 and AC016394.13.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC032856.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355577.9/ ENSP00000347781.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                AL512656.16        130807-130893       c
            88-189              AL512656.16        126763-126864       c
            190-376             AL512656.16        125585-125771       c
            377-475             AL512656.16        120452-120550       c
            476-555             AL512656.16        120185-120264       c
            556-735             AL512656.16        117094-117273       c
            736-918             AL512656.16        113428-113610       c
            919-1013            AL512656.16        107459-107553       c
            1014-1113           AL512656.16        103206-103305       c
            1114-1248           AL512656.16        94992-95126         c
            1249-1419           AL512656.16        84502-84672         c
            1420-1500           AL512656.16        83863-83943         c
            1501-1592           AL512656.16        82187-82278         c
            1593-1653           AL512656.16        71634-71694         c
            1654-1848           AL512656.16        70936-71130         c
            1849-1980           AL512656.16        69071-69202         c
            1981-2106           AL512656.16        65292-65417         c
            2107-2240           AL512656.16        63910-64043         c
            2241-2356           AL512656.16        63669-63784         c
            2357-2575           AL512656.16        63255-63473         c
            2576-2734           AL512656.16        50208-50366         c
            2735-2856           AL512656.16        49269-49390         c
            2857-3009           AL512656.16        47475-47627         c
            3010-3171           AL512656.16        46462-46623         c
            3172-3261           AL512656.16        44957-45046         c
            3262-3363           AL512656.16        41643-41744         c
            3364-3411           AC016394.13        138659-138706       c
            3412-3705           AC016394.13        136052-136345       c
FEATURES             Location/Qualifiers
     source          1..3705
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     gene            1..3705
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /note="cilia and flagella associated protein 70"
                     /db_xref="GeneID:118491"
                     /db_xref="HGNC:HGNC:30726"
                     /db_xref="MIM:618661"
     exon            1..87
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            88..189
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..3492
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /note="isoform 4 is encoded by transcript variant 4; TPR
                     repeat protein 18; tetratricopeptide repeat protein 18;
                     tetratricopeptide repeat-containing protein (LOC118491);
                     tetratricopeptide repeat domain 18"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 70
                     isoform 4"
                     /protein_id="NP_001354730.1"
                     /db_xref="CCDS:CCDS91264.1"
                     /db_xref="GeneID:118491"
                     /db_xref="HGNC:HGNC:30726"
                     /db_xref="MIM:618661"
                     /translation="MEQVPSAGRLVQITVTEGYDLKGFKGDTPVTFIRAEFNQVVLGD
                     SAKITVSPEGSAKYNFTSSFEFNPEGGITSDDLAHKPVFLTVTEVLPKEKKQKEEKTL
                     ILGQAVVDLLPLLEGQSSFQTTVPLHPVQGSPLETPRSSAKQCSLEVKVLVAEPLLTT
                     AQISGGNLLKVTLEAAYSVPESFIPTGPGQNYMVGLQVPSLGEKDYPILFKNGTLKLG
                     GEREPVPRPKKWPIANILAPGANNIPDAFIVGGPYEEEEGELNHPEDSEFRNQAECIK
                     KRIIWDLESRCYLDPSAVVSFQKRIADCRLWPVEITRVPLVTIPKGKAGKTEKTDEEA
                     QLSFHGVAYVNMVPLLYPGVKRIRGAFHVYPYLDSVVHEKTKCLLSLFRDIGHHLIHN
                     NKIGGINSLLSKQAVSKNLKEDKPVKEKDIDGRPRPGDVQAPSIKSQSSDTPLEGEPP
                     LSHNPEGQQYVEAGTYIVLEIQLDKALVPKRMPEELARRVKEMIPPRPPLTRRTGGAQ
                     KAVSDYHIQIKNISRAILDEYYRMFGKQVAKLESDMDSETLEEQKCQLSYELNCSGKY
                     FAFKEQLKHAVVKIVRDKYLKTTSFESQEELQTFISELYVFLVDQMHVALNQTMPDDV
                     QGTVATIYTSSEQLQLFAFEAEVNENFEMAAAYYKERLVREPQNLDHWLDYGAFCLLT
                     EDNIKAQECFQKALSLNQSHIHSLLLCGVLAVLLENYEQAEIFFEDATCLEPTNVVAW
                     TLLGLYYEIQNNDIRMEMAFHEASKQLQARMLQAQVTKQKSTGVEDTEERGKRESSLG
                     PWGITNGSATAIKVEAPAGPGAALSILDKFLEESSKLQSDSQEPILTTQTWDPSISQK
                     PSNTFIKEIPTKKEASKCQDSSALLHPGLHYGVSQTTTIFMETIHFLMKVKAVQYVHR
                     VLAHELLCPQGGPSCEYYLVLAQTHILKKNFAKAEEYLQQAAQMDYLNPNVWGLKGHL
                     YFLSGNHSEAKACYERTISFVVDASEMHFIFLRLGLIYLEEKEYEKAKKTYMQACKRS
                     PSCLTWLGLGIACYRLEELTEAEDALSEANALNNYNAEVWAYLALVCLKVGRQLEAEQ
                     AYKYMIKLKLKDEALLAEIHTLQETVGFGNPSF"
     exon            190..376
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            377..475
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            476..555
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            556..735
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            736..918
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1013
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1113
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1248
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1419
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..1500
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..1592
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..1653
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            1654..1848
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            1849..1980
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            1981..2106
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            2107..2240
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            2241..2356
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            2357..2575
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            2576..2734
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            2735..2856
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            2857..3009
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            3010..3171
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            3172..3261
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            3262..3363
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            3364..3411
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     exon            3412..3705
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3676..3681
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /note="hexamer: AATAAA"
     polyA_site      3705
                     /gene="CFAP70"
                     /gene_synonym="SPGF41; TTC18"
                     /note="major polyA site"
ORIGIN      
        1 gcagaagctc agcgtctcgc tccctgctcc cggccccaga gggttatcgc gagtcttgga
       61 ataaacttgc tcgtgcgatg gccaaaaaga ccaaagaaaa cagagggact tttcccagtt
      121 ggtgatatgg agcaagtgcc atcagcaggc agactcgtgc agatcaccgt gacagaggga
      181 tatgatttga aaggttttaa aggagatact ccagttacct ttattcgagc agaattcaat
      241 caagtggttc tgggagactc tgcaaaaatt actgtttctc cagaaggaag tgcaaaatac
      301 aacttcacta gcagttttga gtttaatcct gaaggaggaa tcacttcaga tgacctcgct
      361 cacaaacctg tgttcttaac tgtgactgaa gttttaccaa aggaaaagaa acagaaagaa
      421 gagaagacct taattcttgg tcaggctgtg gtggaccttc ttcccttact ggaaggacag
      481 agttcatttc aaacaacagt tccattgcac cctgtgcaag gctcaccctt agaaactcct
      541 agatcaagtg ctaagcagtg cagtcttgaa gttaaagtat tagtggcaga gcctttactg
      601 accacagccc agatctcagg gggcaatcta ctgaaggtca cgttggaggc tgcttactct
      661 gtgcctgaat ccttcattcc aacaggtcct gggcagaact acatggtcgg tctgcaagtt
      721 ccatcacttg gagagaagga ctatcccatt ttatttaaga atggaactct gaagcttgga
      781 ggggaaaggg aacctgttcc ccggcccaaa aagtggccaa ttgccaacat tctggctcca
      841 ggagctaata acattcctga tgcattcatt gttggtggtc cctatgaaga agaagaagga
      901 gaactcaacc atcctgagga cagcgaattt aggaatcaag cagagtgcat aaagaaaagg
      961 attatttggg acttggaaag tcgctgctac cttgatcctt ctgcagtggt cagttttcag
     1021 aagcgaattg ccgattgccg gctttggcct gtagagatca caagagttcc tctggtcact
     1081 atacccaaag ggaaagctgg caaaactgaa aagactgatg aagaagctca gctttcgttt
     1141 catggtgtgg cttatgttaa tatggtccca ttgttgtatc caggtgtgaa gagaattcgg
     1201 ggagcttttc atgtttaccc ttacctagac agtgtagtcc atgaaaagac caaatgttta
     1261 ttgagcttgt tccgggatat tggccatcac ttgattcata ataataaaat aggaggaatt
     1321 aattctctgc tgtccaaaca agctgtttct aagaatctga aagaagataa accagtgaaa
     1381 gaaaaggata tagatggaag gcctaggcct ggggatgtgc aggcacctag tataaaatct
     1441 cagagctcag atactccttt ggaaggtgaa ccccctctaa gtcacaatcc tgaaggacag
     1501 caatatgtag aagcagggac atacattgtg ttggaaattc agctggacaa agccttggtt
     1561 ccaaagcgaa tgccagagga gctagccaga agggtcaagg aaatgattcc tccaaggcct
     1621 cctcttaccc gtcggacagg aggagctcag aaggcagtga gtgactacca catacagatc
     1681 aagaatattt ctagagccat tctagatgaa tactacagaa tgtttggaaa acaggtggcc
     1741 aaactggaga gtgatatgga tagtgaaacc ttggaggagc agaagtgcca gctcagctat
     1801 gaacttaatt gctctggaaa atactttgct ttcaaagaac aactcaagca tgctgtggta
     1861 aagattgtga gagataaata cttgaagaca acatcatttg aaagccagga ggaacttcag
     1921 acatttatca gtgagctcta tgtgttctta gtagatcaga tgcatgtagc cctaaaccag
     1981 accatgccag atgatgtcca aggcactgtt gcaaccattt atacaagcag tgaacagctt
     2041 caactctttg catttgaagc agaagtcaat gagaactttg agatggcagc agcatattat
     2101 aaagagagat tggtccgtga gccccagaat ctggatcact ggttggacta tggtgccttc
     2161 tgcctcctaa ctgaagacaa catcaaagca caagagtgtt ttcagaaagc cctttccctc
     2221 aaccagagtc atatccacag cttgttgctg tgtggtgtcc tggctgtcct gttggagaac
     2281 tatgagcaag cagaaatttt ctttgaggat gctacttgct tggaaccaac taatgttgta
     2341 gcctggactt tacttggttt gtactatgaa attcaaaaca atgatattcg aatggaaatg
     2401 gcatttcatg aggcctccaa acagcttcag gcacggatgc ttcaggcaca agtaacaaag
     2461 caaaagagca ctggtgtaga agacactgag gaaagaggga agagagaatc tagtttaggc
     2521 ccttggggaa tcacaaatgg ttctgcaaca gcaatcaagg tggaagcccc agcaggacca
     2581 ggagctgcat tatctattct agacaaattt cttgaagaat cctccaaact gcagtctgat
     2641 tcacaagaac ccattttgac tacacaaact tgggatccaa gtataagcca aaaaccatct
     2701 aacacattta tcaaggagat accaacaaag aaagaagcat caaaatgtca agattcatca
     2761 gctcttctgc atcccggcct tcattatggt gtttctcaaa ctaccaccat cttcatggag
     2821 accatacatt tcttgatgaa agtcaaggct gtgcagtatg tgcacagagt gcttgcacat
     2881 gagctgttat gccctcaagg aggccccagc tgtgaatatt acttggtgct ggcccaaaca
     2941 cacattctta agaagaactt tgccaaggca gaggaatacc ttcaacaagc agcccagatg
     3001 gactacctga accccaatgt ctggggcctg aagggccatc tctattttct gagtggaaat
     3061 cattctgagg ccaaggcatg ctatgaacga accattagct ttgtagtgga tgcttctgag
     3121 atgcacttca tcttcctgag actggggctc atctatctgg aagagaaaga gtatgaaaag
     3181 gcaaagaaaa cctatatgca agcctgtaag agatcacctt catgccttac ctggctagga
     3241 ctgggaatcg cctgctatcg gctggaggag ctcacagagg ctgaggatgc tctttctgaa
     3301 gccaatgcat tgaacaacta caatgctgaa gtatgggcat atctggctct ggtctgcctg
     3361 aaagttggac ggcaattaga agctgagcag gcctacaagt acatgatcaa gctgaaattg
     3421 aaagatgagg ctctgcttgc agagatccac acactacagg aaacagttgg ctttggaaat
     3481 ccatctttct gatacccctc cagctgaaca attttctgca tgggactctg agttcctttc
     3541 cttcccagag agttttaccg tatgaagcct ggagctggag aacgaaagaa tcttcactat
     3601 aaacagagac ccattcattt atttccattg gctgtgttac tggatgtttt actggttgac
     3661 gagaaactgg gtcacaataa aaaaatggag atatgaaact caaaa
//
