LOCUS       NM_144668               3729 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 251 (CFAP251),
            transcript variant 1, mRNA.
ACCESSION   NM_144668
VERSION     NM_144668.6
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 3729)
  AUTHORS   Zhang,L., Chen,Y., Bao,C., Zhang,X. and Li,H.
  TITLE     Eukaryotic initiation Factor 4AIII facilitates hepatocellular
            carcinoma cell proliferation, migration, and epithelial-mesenchymal
            transition process via antagonistically binding to WD repeat domain
            66 with miRNA-2113
  JOURNAL   J Cell Physiol 235 (11), 8199-8209 (2020)
   PUBMED   31975383
  REMARK    GeneRIF: Eukaryotic initiation Factor 4AIII facilitates
            hepatocellular carcinoma cell proliferation, migration, and
            epithelial-mesenchymal transition process via antagonistically
            binding to WD repeat domain 66 with miRNA-2113.
REFERENCE   2  (bases 1 to 3729)
  AUTHORS   Martinez,G., Beurois,J., Dacheux,D., Cazin,C., Bidart,M.,
            Kherraf,Z.E., Robinson,D.R., Satre,V., Le Gac,G., Ka,C.,
            Gourlaouen,I., Fichou,Y., Petre,G., Dulioust,E., Zouari,R.,
            Thierry-Mieg,N., Toure,A., Arnoult,C., Bonhivers,M., Ray,P. and
            Coutton,C.
  TITLE     Biallelic variants in MAATS1 encoding CFAP91, a
            calmodulin-associated and spoke-associated complex protein, cause
            severe astheno-teratozoospermia and male infertility
  JOURNAL   J Med Genet 57 (10), 708-716 (2020)
   PUBMED   32161152
  REMARK    GeneRIF: Biallelic variants in MAATS1 encoding CFAP91, a
            calmodulin-associated and spoke-associated complex protein, cause
            severe astheno-teratozoospermia and male infertility.
REFERENCE   3  (bases 1 to 3729)
  AUTHORS   Zhang,Y., Xiao,X., Zhou,W., Hu,J. and Zhou,D.
  TITLE     LIN28A-stabilized FBXL19-AS1 promotes breast cancer migration,
            invasion and EMT by regulating WDR66
  JOURNAL   In Vitro Cell Dev Biol Anim 55 (6), 426-435 (2019)
   PUBMED   31140103
  REMARK    GeneRIF: WDR66 expression is regulated by Lin28a and FBXL19-AS1 in
            breast cancer.
REFERENCE   4  (bases 1 to 3729)
  AUTHORS   Cao,Y., Liu,H., Xia,S.L., Zhang,X., Bai,H., Yang,Q., Li,J., Gao,L.,
            Jin,F., Wei,M.J., Lu,S.L. and Xiao,J.
  TITLE     PTEN downregulates WD repeat-containing protein 66 in salivary
            adenoid cystic carcinoma
  JOURNAL   Oncol Rep 41 (3), 1827-1836 (2019)
   PUBMED   30569117
  REMARK    GeneRIF: WDR66 expression was identified to be inversely associated
            with PTEN expression and negatively correlated with the overall
            survival of patients with salivary adenoid cystic carcinoma (SACC).
            Collectively, the results of the study revealed a novel function of
            WDR66 in mediating the progression of PTENdeficient SACCs.
REFERENCE   5  (bases 1 to 3729)
  AUTHORS   Li,W., He,X., Yang,S., Liu,C., Wu,H., Liu,W., Lv,M., Tang,D.,
            Tan,J., Tang,S., Chen,Y., Wang,J., Zhang,Z., Wang,H., Jin,L.,
            Zhang,F. and Cao,Y.
  TITLE     Biallelic mutations of CFAP251 cause sperm flagellar defects and
            human male infertility
  JOURNAL   J Hum Genet 64 (1), 49-54 (2019)
   PUBMED   30310178
  REMARK    GeneRIF: Biallelic mutations of CFAP251 is associated with sperm
            flagellar defects and male infertility.
REFERENCE   6  (bases 1 to 3729)
  AUTHORS   Meisinger,C., Prokisch,H., Gieger,C., Soranzo,N., Mehta,D.,
            Rosskopf,D., Lichtner,P., Klopp,N., Stephens,J., Watkins,N.A.,
            Deloukas,P., Greinacher,A., Koenig,W., Nauck,M., Rimmbach,C.,
            Volzke,H., Peters,A., Illig,T., Ouwehand,W.H., Meitinger,T.,
            Wichmann,H.E. and Doring,A.
  TITLE     A genome-wide association study identifies three loci associated
            with mean platelet volume
  JOURNAL   Am J Hum Genet 84 (1), 66-71 (2009)
   PUBMED   19110211
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 3729)
  AUTHORS   Dymek,E.E. and Smith,E.F.
  TITLE     A conserved CaM- and radial spoke associated complex mediates
            regulation of flagellar dynein activity
  JOURNAL   J Cell Biol 179 (3), 515-526 (2007)
   PUBMED   17967944
REFERENCE   8  (bases 1 to 3729)
  AUTHORS   Li,D. and Roberts,R.
  TITLE     WD-repeat proteins: structure characteristics, biological function,
            and their involvement in human diseases
  JOURNAL   Cell Mol Life Sci 58 (14), 2085-2097 (2001)
   PUBMED   11814058
  REMARK    Review article
REFERENCE   9  (bases 1 to 3729)
  AUTHORS   Smith,T.F., Gaitatzes,C., Saxena,K. and Neer,E.J.
  TITLE     The WD repeat: a common architecture for diverse functions
  JOURNAL   Trends Biochem Sci 24 (5), 181-185 (1999)
   PUBMED   10322433
  REMARK    Review article
REFERENCE   10 (bases 1 to 3729)
  AUTHORS   Neer,E.J., Schmidt,C.J., Nambudripad,R. and Smith,T.F.
  TITLE     The ancient regulatory-protein family of WD-repeat proteins
  JOURNAL   Nature 371 (6495), 297-300 (1994)
   PUBMED   8090199
  REMARK    Review article
            Erratum:[Nature 1994 Oct 27;371(6500):812]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC028421.2, BC036233.1 and
            CA503090.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_144668.5.
            
            Summary: This protein encoded by this gene belongs to the WD
            repeat-containing family of proteins, which function in the
            formation of protein-protein complexes in a variety of biological
            pathways. This family member appears to function in the
            determination of mean platelet volume (MPV), and polymorphisms in
            this gene have been associated with variance in MPV. Alternative
            splicing of this gene results in multiple transcript variants.
            [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC028421.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000288912.9/ ENSP00000288912.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-320               BC028421.2         19-338
            321-981             BC028421.2         354-1014
            982-2072            BC036233.1         1010-2100
            2073-2731           BC028421.2         2106-2764
            2732-2895           BC036233.1         2760-2923
            2896-3724           BC028421.2         2929-3757
            3725-3729           CA503090.1         22-26               c
FEATURES             Location/Qualifiers
     source          1..3729
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..3729
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /note="cilia and flagella associated protein 251"
                     /db_xref="GeneID:144406"
                     /db_xref="HGNC:HGNC:28506"
                     /db_xref="MIM:618146"
     exon            1..104
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            105..502
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     CDS             125..3574
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /note="isoform 1 is encoded by transcript variant 1; WD
                     repeat-containing protein 66; WD repeat domain 66"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 251
                     isoform 1"
                     /protein_id="NP_653269.3"
                     /db_xref="CCDS:CCDS41853.1"
                     /db_xref="GeneID:144406"
                     /db_xref="HGNC:HGNC:28506"
                     /db_xref="MIM:618146"
                     /translation="MSDAAEAPREATGENGETEMKEEEEPNPNYKEVEDPQQESKDDT
                     IAWRESQEEERKTGEEEGEEEGKEDKKIVMEETEEKAGEVQEKEASGIQEETTVEPQE
                     VTASMIRLETQITDSQSITSGIFPKTQRGSKSKLSLQLEDAETDELLRDLSTQIEFLD
                     LDQISPEEQQISSPERQPSGELEEKTDRMPQDELGQERRDLEPENREEGQERRVSDIQ
                     SKAGISRESLVSSTTEDILFQKDKSTPVYPLTMTWSFGWNSSLPVYYIREERQRVLLY
                     VCAHTAIIYNVFRNNQYHLQGHANIISCLCVSEDRRWIATADKGPDCLVIIWDSFTGI
                     PVHTIFDSCPEGNGIMAMAMTHDAKYLATISDAEVQKVCIWKWTLAVETPACTLELPT
                     EYGVQNYVTFNPTNNKELVSNSKTRAIYYAWYEERDTLAHSAPLLTEKTFNKLVGKFS
                     QSIFHLNLTQILSATMEGKLVVWDIHRPPSSASTFLGFPYIKPCKLVHLQKEGITVLT
                     TIDSYIVTGDIKGNIKFYDHTLSIVNWYSHLKLGAIRTLSFSKTPATPPTEKSNYPPD
                     CTLKGDLFVLRNFIIGTSDAAVYHLTTDGTKLEKLFVEPKDAICAISCHPYQPLIAIG
                     SICGMIKVWNYENKQYLFSRVFEKGLGVQSLTYNPEGALLGAGFTEGTVYILDAMSLE
                     NESPEPFKYSRTSVTHISFSHDSQYMATADRSFTVAVYMLVVRNGQRVWEYLARLRSH
                     RKSIRSLLFGVYLDSNEPRLLSLGTDRLLIEYDLLRSYKDHLEVLDIHHTDQGCYPTC
                     MVWYPPLTRELFLLICNSGYKVKLFNATTKMCRKTLLGPAYGSPIEQTQVLPVRSMAE
                     LQKRYLVFINRDKVGLQILPVDGNPHKTSAIVCHPNGVAGMAVSYDGCYAFTAGGHDR
                     SVVQWKITLSVLEAAVSLGGEDLTPFYGLLSGGREGKFYRELEDYFYYSQLRSQGIDT
                     METRKVSEHICLSELPFVMRAIGFYPSEEKIDDIFNEIKFGEYVDTGKLIDKINLPDF
                     LKVYLNHKPPFGNTMSGIHKSFEVLGYTNSKGKKAIRREDFLRLLVTKGEHMTEEEML
                     DCFASLFGLNPEGWKSEPATCSVKGSEICLEEELPDEITAEIFATEILGLTISEDSGQ
                     DGQ"
     exon            503..871
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            872..1012
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1122
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            1123..1234
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1315
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1393
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            1394..1444
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            1445..1659
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            1660..1854
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            1855..2105
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            2106..2257
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            2258..2431
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            2432..2616
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            2617..2731
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            2732..2895
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            2896..2986
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            2987..3130
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            3131..3359
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            3360..3461
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     exon            3462..3729
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3700..3705
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /note="hexamer: ATTAAA"
     polyA_site      3729
                     /gene="CFAP251"
                     /gene_synonym="CaM-IP4; SPGF33; WDR66"
                     /note="major polyA site"
ORIGIN      
        1 agaactaggg agctggtgga gaaggtggcg gccgctggaa ggaggcccgg gaggtggctg
       61 aggggtccag gcggcgggac gactctggcc ttttgaagac cgggaggaaa ctctacagag
      121 aagaatgtca gatgcagcag aagctccccg agaagcaaca ggagaaaatg gagaaacaga
      181 aatgaaagaa gaggaggaac ctaatccaaa ttataaagaa gtagaagatc cacaacagga
      241 atcaaaagat gacacaatag catggagaga gtctcaggag gaggagagga aaacgggcga
      301 ggaggaaggg gaggaggagg ggaaggagga caaaaagatt gtcatggaag aaactgagga
      361 aaaggctgga gaagtccaag agaaggaggc ttcaggaata caggaagaaa ccacagtaga
      421 gccccaagaa gtcacagcgt ccatgatccg tttggagaca cagattactg attcccagtc
      481 aatcacatca ggaattttcc caaaaaccca aagaggtagc aagtcaaagc tttccttaca
      541 attggaggat gcagaaacag atgagctttt aagagacctg agcacacaaa ttgaatttct
      601 tgatttggat caaatcagtc ctgaggaaca acagattagt tcccctgaaa ggcagccctc
      661 aggagagctt gaggagaaaa ccgaccggat gccccaagat gaactgggac aagaaagaag
      721 ggacttggag ccagaaaaca gagaggaggg acaagaaagg agagtatccg acatccagtc
      781 caaagcaggg atctcccggg agtcactggt gtccagcacc acagaggaca ttctgtttca
      841 aaaggataaa agcaccccgg tgtatccctt gaccatgacc tggtcgtttg gatggaacag
      901 ttctcttcct gtttactata ttcgagagga aaggcagaga gttcttctgt atgtttgtgc
      961 tcacactgcg atcatctaca acgtgttcag gaacaatcaa taccaccttc agggccacgc
     1021 caatattatc tcctgcctct gcgtcagtga agacaggcgg tggatcgcca cagcagacaa
     1081 agggccagac tgcctggtga ttatatggga ctccttcaca ggtattcctg tgcacacaat
     1141 atttgacagc tgccctgaag ggaatggcat catggccatg gccatgaccc acgacgccaa
     1201 gtatctggca accatctcag atgctgaagt ccagaaggta tgcatctgga agtggacttt
     1261 ggcagtggaa acgccagcat gcactctcga actccccaca gagtacggtg ttcagaacta
     1321 cgttactttt aacccaacaa ataataaaga attggtgagc aatagtaaaa cacgggcaat
     1381 atattatgca tggtatgaag agagggatac actggctcac agtgccccac ttttaactga
     1441 aaaaaccttc aacaagcttg tgggaaagtt tagccagtcc atctttcact tgaatttaac
     1501 acaaatactc tcagccacaa tggaagggaa gctggttgtc tgggacatac accgcccacc
     1561 ctcatctgcc tccacctttt tgggctttcc ctatatcaag ccttgtaaat tggttcattt
     1621 gcagaaagag ggtatcacgg tacttaccac aattgatagc tacattgtca caggtgacat
     1681 taaggggaac attaagttct atgatcacac cctgtctatt gttaactggt acagtcactt
     1741 gaaactgggc gccataagaa ctctgtcctt ttcaaagacc ccagcaactc ctcctactga
     1801 aaaatcaaac tatcctcctg actgcacttt aaaaggtgac ctttttgtct taaggaattt
     1861 tatcattgga acatctgatg ccgcggtgta ccacttaaca acagatggga ccaaacttga
     1921 gaagttattt gtagagccca aggatgccat ttgtgccatc tcctgccacc catatcaacc
     1981 cctcattgcc atcgggagca tctgtgggat gatcaaagtg tggaattatg aaaacaaaca
     2041 atatcttttc agcagggttt ttgagaaggg gcttggagtc cagagtctga cctacaaccc
     2101 cgaaggagcc cttcttggag ctggctttac agaggggaca gtttacattc ttgatgcaat
     2161 gtctttagaa aatgaaagcc cagagccttt caaatattcc agaaccagtg tgactcatat
     2221 aagcttttcc catgactccc agtatatggc aactgctgat agaagtttta ctgtggctgt
     2281 ttacatgctg gtggtcagaa atggacagag ggtctgggag tacttagcaa gacttcgctc
     2341 tcatcgcaaa agcattcgaa gtctcctgtt tggggtttac ctggacagca atgagcctag
     2401 actgctgagc cttgggacag acaggctctt gatagagtat gatcttctca ggagctacaa
     2461 agaccacctg gaagtcctgg acattcacca caccgaccag ggctgctatc ccacctgcat
     2521 ggtctggtac ccaccactca ccagggaact cttcctgctt atttgcaaca gtggctacaa
     2581 agtgaagctt tttaatgcta ctaccaaaat gtgcagaaag acgcttctgg ggccagctta
     2641 tggttcccct attgagcaga cacaagtcct cccagtgaga agcatggcgg agctacagaa
     2701 acgctacttg gtgtttatta acagagacaa ggtgggactt cagatcttac cagttgacgg
     2761 caatccacat aagacatctg ctattgtttg ccacccgaac ggggtggccg gcatggccgt
     2821 ttcctatgat ggctgctacg ccttcactgc gggagggcac gatcgctcgg tggtgcagtg
     2881 gaaaatcacc ttaagtgtcc tggaggcagc ggtttctctt gggggtgaag acttgacccc
     2941 attctatggt ctgctgtctg gtggccggga aggaaaattc tacagggagc tagaagacta
     3001 cttctactat tctcagctcc gcagtcaagg catcgacaca atggagacca gaaaggtgtc
     3061 agaacacatt tgcctgtcag agcttccttt tgtcatgaga gcaattggct tttacccatc
     3121 tgaagagaag attgatgata tatttaacga aatcaaattt ggtgaatatg tggacactgg
     3181 aaagctaatc gacaagatca acttaccaga tttcctaaaa gtgtacctta accacaagcc
     3241 accttttggt aacaccatga gtggcatcca caagagcttt gaggtgctcg gttataccaa
     3301 ctccaaaggg aaaaaggcca ttcgaagaga ggacttcctg agactgctcg ttactaaagg
     3361 tgagcatatg acggaggagg agatgttgga ttgctttgct tcactgtttg gcctgaatcc
     3421 cgagggatgg aaatccgagc ctgcaacctg ctccgtcaaa ggttcagaaa tttgccttga
     3481 agaagaactt ccagacgaaa tcactgcaga aatattcgcg actgaaattc ttggcttaac
     3541 catttcagaa gattccggcc aggatggtca gtgaagttac caggaatgtt taaagcacaa
     3601 aggactttgg gtgtgtgtgc atgcacatgt gtgtgttttc catgaggcac tgctttttat
     3661 gcatttccct cccccctctc atctttagaa catttagaca ttaaagcaag tttctggtga
     3721 gcaatggaa
//
