LOCUS       NM_001039706            3902 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 69 (CFAP69),
            transcript variant 1, mRNA.
ACCESSION   NM_001039706
VERSION     NM_001039706.3
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 3902)
  AUTHORS   Tang,X., Ma,J., Wang,X., Long,S., Wan,L., Yu,H., Yang,J., Huang,G.
            and Lin,T.
  TITLE     A novel variant in CFAP69 causes asthenoteratozoospermia with
            treatable ART outcomes and a literature review
  JOURNAL   J Assist Reprod Genet 40 (9), 2175-2184 (2023)
   PUBMED   37392306
  REMARK    GeneRIF: A novel variant in CFAP69 causes asthenoteratozoospermia
            with treatable ART outcomes and a literature review.
            Review article
REFERENCE   2  (bases 1 to 3902)
  AUTHORS   He,X., Li,W., Wu,H., Lv,M., Liu,W., Liu,C., Zhu,F., Li,C., Fang,Y.,
            Yang,C., Cheng,H., Zhang,J., Tan,J., Chen,T., Tang,D., Song,B.,
            Wang,X., Zha,X., Wang,H., Wei,Z., Yang,S., Saiyin,H., Zhou,P.,
            Jin,L., Wang,J., Zhang,Z., Zhang,F. and Cao,Y.
  TITLE     Novel homozygous CFAP69 mutations in humans and mice cause severe
            asthenoteratospermia with multiple morphological abnormalities of
            the sperm flagella
  JOURNAL   J Med Genet 56 (2), 96-103 (2019)
   PUBMED   30415212
  REMARK    GeneRIF: Homozygous loss-of-function mutations of CFAP69 are
            associated with abnormalities of the sperm flagella and severe
            asthenoteratospermia.
REFERENCE   3  (bases 1 to 3902)
  AUTHORS   Dong,F.N., Amiri-Yekta,A., Martinez,G., Saut,A., Tek,J.,
            Stouvenel,L., Lores,P., Karaouzene,T., Thierry-Mieg,N., Satre,V.,
            Brouillet,S., Daneshipour,A., Hosseini,S.H., Bonhivers,M.,
            Gourabi,H., Dulioust,E., Arnoult,C., Toure,A., Ray,P.F., Zhao,H.
            and Coutton,C.
  TITLE     Absence of CFAP69 Causes Male Infertility due to Multiple
            Morphological Abnormalities of the Flagella in Human and Mouse
  JOURNAL   Am J Hum Genet 102 (4), 636-648 (2018)
   PUBMED   29606301
  REMARK    GeneRIF: CFAP69 is necessary for flagellum assembly/stability and
            that in both humans and mice
REFERENCE   4  (bases 1 to 3902)
  AUTHORS   Pike,B.L., Greiner,T.C., Wang,X., Weisenburger,D.D., Hsu,Y.H.,
            Renaud,G., Wolfsberg,T.G., Kim,M., Weisenberger,D.J.,
            Siegmund,K.D., Ye,W., Groshen,S., Mehrian-Shai,R., Delabie,J.,
            Chan,W.C., Laird,P.W. and Hacia,J.G.
  TITLE     DNA methylation profiles in diffuse large B-cell lymphoma and their
            relationship to gene expression status
  JOURNAL   Leukemia 22 (5), 1035-1043 (2008)
   PUBMED   18288132
  REMARK    GeneRIF: A CpG island proximal to FLJ21062 is frequently methylated
            in diffuse large B-cell lymphoma (DLBCL).
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC402406.1, BC141834.1, BC140742.1 and BF112239.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001039706.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC141834.1, SRR1803614.85057.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389297.8/ ENSP00000373948.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                DC402406.1         2-55
            55-1366             BC141834.1         1-1312
            1367-3170           BC140742.1         1253-3056
            3171-3896           BC141834.1         3117-3842
            3897-3902           BF112239.1         8-13                c
FEATURES             Location/Qualifiers
     source          1..3902
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.13"
     gene            1..3902
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="cilia and flagella associated protein 69"
                     /db_xref="GeneID:79846"
                     /db_xref="HGNC:HGNC:26107"
                     /db_xref="MIM:617949"
     exon            1..371
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     CDS             252..3077
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 69
                     isoform 1"
                     /protein_id="NP_001034795.2"
                     /db_xref="CCDS:CCDS43613.2"
                     /db_xref="GeneID:79846"
                     /db_xref="HGNC:HGNC:26107"
                     /db_xref="MIM:617949"
                     /translation="MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFK
                     PMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIK
                     NQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQIC
                     KCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVL
                     KVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEV
                     IQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTK
                     DLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKV
                     ILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAF
                     LEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTI
                     QQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHV
                     MKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKK
                     FCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKI
                     IDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAE
                     DFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVAS
                     LQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQ
                     EKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALK
                     KLPIRGGALQRVKAVKIVDAPKKSIPT"
     exon            372..431
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            432..497
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            498..607
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            608..684
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            685..783
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            784..933
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1111
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1235
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            1236..1284
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1406
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            1407..1623
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            1624..1788
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            1789..1907
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            1908..2026
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            2027..2108
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            2109..2301
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            2302..2439
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            2440..2516
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            2517..2714
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            2715..2801
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            2802..2906
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     exon            2907..3902
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3878..3883
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="hexamer: TATAAA"
     regulatory      3882..3887
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="hexamer: AATATA"
     polyA_site      3896
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
     polyA_site      3902
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="major polyA site"
ORIGIN      
        1 agcaacgcgc tggcttgtgt taacaaccgg cccgggatca gaggtctggg tcaactgggg
       61 ggcggcagcg gcgctaagcg gactgtatgg cggtggccta ggcccctggc ggaattttgg
      121 gacctttcgc gactctagcg actctcaggc tgccttccct tctcggtggc ggggcctctt
      181 tgggcccagc ggctgcgggc gcactgtagg acaggaagat ccccccactc tccaccccgc
      241 cgccaccggc catgtggaca gaggaagccg gggcgaccgc cgaggcccag gaatccggca
      301 tcaggaacaa gtctagcagt tccagtcaaa tcccggtggt tggggtggtg acggaggacg
      361 atgaggcgca ggatgttttc aagcctatgg accttaatcg tgtcatcaaa ctcctcgaag
      421 agactgataa agatggcttg gaagaaaaac aacttaaatt tgtcaagaaa ctggtacagt
      481 gttatcagaa tggacttcca ttaagggatt tagcacagat atttaaaatt ctgaatctgt
      541 gttcaggaaa aataaaaaac cagcctcgtt ttatagaatc tgcatatgat atcataaaac
      601 tgtgtggctt gccatttttg aaaaagaaag tgtcggatga aataacttat gctgaagata
      661 ctgctaattc aattgcactt ctgggtgact taatgaaaat accaagttct gaattgagga
      721 tacaaatttg taagtgtatt gttgattttt atcatgcaga accaccaaag aagcatattc
      781 caggttacca gcaagcgagt tcatcataca agattcaaat ggctgaagtt ggaggattag
      841 caaaaacaat ggtccagtca atgaccttgc ttgaaaatca acttgttgag aaactttggg
      901 tacttaaagt tctgcagcat ctctcaactt ctgaagttaa ttgtactata atgatgaaag
      961 cacaagcagc cagtggaatc tgtactcacc tcaatgaccc agatccctct ggacagcttt
     1021 tatttcgttc atcagaaata ctttggaact tgctggaaaa atcttcaaaa gaagaagtca
     1081 tacaacagct tagtaacttg gaatgtttgc tggctttgaa ggaagtattt aaaaatctgt
     1141 ttatgagagg tttcagtcat tatgaccgtc agcttagaaa tgacatatta gtgatcacta
     1201 caattatagc tcaaaatcct gaagcaccaa tgattgaatg tggctttacc aaggatttga
     1261 tactgtttgc cacctttaat gaagttaaaa gtcaaaatct tttggtaaaa ggacttaagc
     1321 tttctaattc ctatgaagat tttgagttga agaaattact attcaacgta attgtgatct
     1381 tatgtaaaga tttacctact gtacagctat taattgatgg caaagttatt ttggctttgt
     1441 ttacctatgt taagaagcct gagaagcaaa aaataattga ctggtctgca gcacagcatg
     1501 aagaattaca actgcatgca attgccactt tgtcatcagt ggctccttta ttaatagaag
     1561 aatacatgtc atgccaggga aatgctcgag tccttgcatt tctagaatgg tgtgagagtg
     1621 aagatccgtt tttcagtcat ggtaacagtt ttcatggtac aggtggccga ggcaacaagt
     1681 ttgcccagat gcgttacagt ttaagactcc tgagagccgt ggtctacctt gaagatgaga
     1741 ctgtaaacaa agatctttgt gaaaagggaa caattcagca aatgatagga atctttaaaa
     1801 atataataag caagcctaat gaaaaggaag aagccattgt tttggaaatc cagtctgata
     1861 tattacttat cctatctggc ctttgtgaga atcacattca aaggaaggaa attttcggaa
     1921 ctgaaggagt agatatcgtt cttcatgtga tgaaaacaga ccccaggaag ttacagagtg
     1981 gcttaggcta taatgtactt ctttttagta cattggacag catttggtgc tgtattttgg
     2041 gatgttatcc ctcagaggat tattttcttg aaaaggaagg catttttctc cttttggatt
     2101 tgttagcatt gaaccaaaaa aaattctgta atctaatact tggaataatg gttgaatttt
     2161 gtgataatcc caaaactgca gctcatgtca atgcttggca agggaagaag gatcagacag
     2221 ctgctagtct tttaattaaa ttgtggagaa aggaggaaaa agaactagga gtaaaacgtg
     2281 ataaaaatgg gaagatcatt gatacaaaaa aacctctatt tactagcttt caagaagagc
     2341 aaaaaatcat cccactgcct gctaactgcc catctattgc ggttatggat gtttctgaga
     2401 atattagagc aaaaatttat gctatattgg gcaaactaga ttttgaaaat ttacctggcc
     2461 tatctgctga agattttgtc accctttgta tcatacatag atatcttgat tttaaaattg
     2521 gagaaatatg gaatgaaata tatgaagaaa taaaattaga aaaattaaga ccagtcacta
     2581 cagataaaaa agctttggaa gctattacaa cagcatcaga aaatattgga aagatggttg
     2641 cttctctgca aagtgatata attgaaagcc aagcatgcca agacatgcaa aatgaacaaa
     2701 aagtatatgc aaaaatacag gccacgcaca agcaaagaga gctggctaat aaatcatggg
     2761 aagatttctt ggctagaaca tcaaacgcta aaacgttaaa gaaagcaaaa agccttcaag
     2821 aaaaagctat agaagcctcc agataccata aacgaccaca aaatgcaata tttcaccaaa
     2881 cacatattaa aggccttaac acaacggtgc cctctggtgg agtagtaaca gtggaaagca
     2941 ctcctgcccg attagtagga ggacctctgg ttgatacgga tattgctctt aaaaaactgc
     3001 ccattcgagg aggagccttg cagagggtga aagcagttaa aattgtggat gcaccaaaaa
     3061 agagtattcc tacgtaatat actatagaga ctttttgaaa taaagtcagc ttataatttt
     3121 ttagctgaat atatctttat acatatgtaa agccaatatt ttagaataag tattttagta
     3181 taaatatttt agtaaaatac tataaaaata aaaggacata taatttattt ttatggaaaa
     3241 catcaacatg taatatcaga agagttgtca tcagtttctt tggaaaggct accaatttta
     3301 ctaagtgaaa ttgtaaaaca tagtacatca gttaggactc tgttggttgc atgtgaacta
     3361 ttctaactag tttaagtcag aaaaaaaatt tcttacaggc tctataccta tcaaatctag
     3421 gaggaattta gactacaggc attgctgaat ctaaggacta aaactatatg agtaggatct
     3481 tctccttccc tagcagctcc tggcttacat tctcttaggt tcatgcctgt gtctctgtgg
     3541 tttctgcagc tgcctatgca tctcaggacc cctgattgcc cacatgccta cggtagtcct
     3601 gagccattca ccatgacttt ggccatggct gagtactgcc tattcctgga gccagaagca
     3661 gggcaactcc atccaaaaca tatggataga gtggggaatc agggtactat tatcagaagc
     3721 aagtatatat gaatattggg cagcaagata aacaataact ctgcaacaag tatgttggtc
     3781 aaaataaaat tatgttttct ctgctataaa agcaaatgtt agtcatgagc caaatggtaa
     3841 aaaagaaaaa aaaatgcagc tggttttact cttaatatat aaatatacaa agcaaactct
     3901 aa
//
