LOCUS       NM_001008723            3256 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 58 (CFAP58),
            transcript variant 1, mRNA.
ACCESSION   NM_001008723 XM_089747
VERSION     NM_001008723.2
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 3256)
  AUTHORS   Sha,Y., Sha,Y., Liu,W., Zhu,X., Weng,M., Zhang,X., Wang,Y. and
            Zhou,H.
  TITLE     Biallelic mutations of CFAP58 are associated with multiple
            morphological abnormalities of the sperm flagella
  JOURNAL   Clin Genet 99 (3), 443-448 (2021)
   PUBMED   33314088
  REMARK    GeneRIF: Biallelic mutations of CFAP58 are associated with multiple
            morphological abnormalities of the sperm flagella.
REFERENCE   2  (bases 1 to 3256)
  AUTHORS   He,X., Liu,C., Yang,X., Lv,M., Ni,X., Li,Q., Cheng,H., Liu,W.,
            Tian,S., Wu,H., Gao,Y., Yang,C., Tan,Q., Cong,J., Tang,D.,
            Zhang,J., Song,B., Zhong,Y., Li,H., Zhi,W., Mao,X., Fu,F., Ge,L.,
            Shen,Q., Zhang,M., Saiyin,H., Jin,L., Xu,Y., Zhou,P., Wei,Z.,
            Zhang,F. and Cao,Y.
  TITLE     Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar
            Axoneme and Mitochondrial Sheath Defects and
            Asthenoteratozoospermia in Humans and Mice
  JOURNAL   Am J Hum Genet 107 (3), 514-526 (2020)
   PUBMED   32791035
  REMARK    GeneRIF: Bi-allelic Loss-of-function Variants in CFAP58 Cause
            Flagellar Axoneme and Mitochondrial Sheath Defects and
            Asthenoteratozoospermia in Humans and Mice.
REFERENCE   3  (bases 1 to 3256)
  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   4  (bases 1 to 3256)
  AUTHORS   Liu,Y., Kheradmand,F., Davis,C.F., Scheurer,M.E., Wheeler,D.,
            Tsavachidis,S., Armstrong,G., Simpson,C., Mandal,D., Kupert,E.,
            Anderson,M., You,M., Xiong,D., Pikielny,C., Schwartz,A.G.,
            Bailey-Wilson,J., Gaba,C., De Andrade,M., Yang,P., Pinney,S.M.,
            Amos,C.I. and Spitz,M.R.
  CONSRTM   Genetic Epidemiology of Lung Cancer Consortium
  TITLE     Focused Analysis of Exome Sequencing Data for Rare Germline
            Mutations in Familial and Sporadic Lung Cancer
  JOURNAL   J Thorac Oncol 11 (1), 52-61 (2016)
   PUBMED   26762739
  REMARK    GeneRIF: A heterozygous p.Arg696Cys variant in the coiled-coil
            domain containing 147 gene at 10q25.1 was associated with Lung
            Cancer.
REFERENCE   5  (bases 1 to 3256)
  AUTHORS   Pieragostino,D., Agnifili,L., Fasanella,V., D'Aguanno,S.,
            Mastropasqua,R., Di Ilio,C., Sacchetta,P., Urbani,A. and Del
            Boccio,P.
  TITLE     Shotgun proteomics reveals specific modulated protein patterns in
            tears of patients with primary open angle glaucoma naive to therapy
  JOURNAL   Mol Biosyst 9 (6), 1108-1116 (2013)
   PUBMED   23580065
REFERENCE   6  (bases 1 to 3256)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC036225.1 and AL355378.8.
            
            On Nov 22, 2018 this sequence version replaced NM_001008723.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX641120.1, BC036225.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369704.8/ ENSP00000358718.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3244              BC036225.1         72-3315
            3245-3256           AL355378.8         3227-3238
FEATURES             Location/Qualifiers
     source          1..3256
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.1"
     gene            1..3256
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /note="cilia and flagella associated protein 58"
                     /db_xref="GeneID:159686"
                     /db_xref="HGNC:HGNC:26676"
                     /db_xref="MIM:619129"
     exon            1..74
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..2684
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 147; coiled-coil
                     domain containing 147"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 58
                     isoform 1"
                     /protein_id="NP_001008723.1"
                     /db_xref="CCDS:CCDS31282.1"
                     /db_xref="GeneID:159686"
                     /db_xref="HGNC:HGNC:26676"
                     /db_xref="MIM:619129"
                     /translation="MAEEKGGKQVLEESAFEEMERDFQGVLHELSGDKSLEKFRIEYE
                     RLHAVMKKSYDNEKRLMAKCRELNAEIVVNSAKVATALKLSQDDQTTIASLKKEIEKA
                     WKMVDSAYDKEQKAKETILALKEEIVNLTKLVEQGSGLSMDQHSNIRDLLRFKEEVTK
                     ERDQLLSEVVKLRESLAQTTEQQQETERSKEEAEHAISQFQQEIQQRQNEASREFRKK
                     EKLEKELKQIQADMDSRQTEIKALQQYVQKSKEELQKLEQQLKEQKILNERAAKELEQ
                     FQMRNAKLQQENEQHSLVCEQLSQENQQKALELKAKEEEVHQMRLDIGKLNKIREQIH
                     KKLHHTEDQKAEVEQHKETLKNQIVGLEREVEASKKQAELDRKAMDELLRERDILNKN
                     MLKAVNATQKQTDLVKLHEQAKRNLEGEIQNYKDEAQKQRKIIFHLEKERDRYINQAS
                     DLTQKVLMNMEDIKVRETQIFDYRKKIAESEIKLKQQQNLYEAVRSDRNLYSKNLVEA
                     QDEITDMKRKLKIMIHQVDELKEDISAKESALVKLHLEQQRIEKEKETLKAELQKLRQ
                     QALETKHFIEKQEAEERKLLRIIAEADGERLRQKKELDQVISERDILGSQLVRRNDEL
                     ALLYEKIKIQQSVLNKGESQYNQRLEDMRILRLEIKKLRREKGILARSMANVEELRQE
                     FFHMQRELLKERTRCRALEEELENPLNVHRWRKLEASDPNAYELIQKIHTLQKRLISK
                     TEEVVEKELLLQEKEKLYMELKHVLARQPGPEAAEQLKLYRRTLHDKKQQLKVLSSEL
                     NMYEVQSKEYKYEVEKLTNELQNLKKKYLAQKRKEQLQKNKDTAPMDNTFLMVKPNGP
                     GFTGGGFPLRSTKMTF"
     exon            75..356
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            357..505
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            506..662
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            663..857
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            858..995
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1155
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..1238
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1430
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1592
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..1739
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            1740..1880
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            1881..2104
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            2105..2216
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            2217..2321
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            2322..2441
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            2442..2575
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     exon            2576..3256
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3030
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /note="major polyA site"
     regulatory      3233..3238
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /note="hexamer: AATAAA"
     polyA_site      3256
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
ORIGIN      
        1 agactccggc ccagctcctg cgatctccac agcagcctct gaggccgccc ccagagagca
       61 tcaggatggc tgaggaaaag ggtggaaagc aagtcctgga agaatctgca tttgaagaaa
      121 tggaaagaga ttttcaggga gttctccatg aactttctgg agacaaaagt ttggaaaaat
      181 ttcggattga atatgagagg cttcatgctg tcatgaaaaa gtcttatgac aatgaaaagc
      241 gtctgatggc caaatgcaga gagctaaatg cagagattgt agtgaattct gcgaaggtcg
      301 ccactgccct taagctctct caggatgatc agaccaccat tgcatcccta aagaaggaaa
      361 ttgaaaaggc ctggaagatg gtggactcag cctatgacaa agagcagaag gccaaggaga
      421 cgattcttgc tctgaaagag gaaatagtga acctgaccaa actagtggag caggggtctg
      481 gactgtcaat ggaccagcat agcaacatcc gagatttact gaggttcaaa gaagaagtga
      541 caaaggagag agaccagctc ttatcagaag tggtaaaatt acgagaatcc ctagctcaga
      601 ccactgaaca gcagcaggaa acagagcgat caaaagagga ggctgaacat gccatcagtc
      661 agttccaaca agaaatccag caacgtcaga acgaagcttc ccgggagttc cggaagaagg
      721 aaaaactaga gaaagagctc aagcagattc aggcagacat ggacagcagg cagacagaaa
      781 taaaagccct gcagcagtat gtgcagaaga gcaaggagga gcttcagaag ctggagcagc
      841 agctgaagga gcagaagata ttgaatgaga gagctgcaaa ggaactcgag caatttcaga
      901 tgagaaatgc taaacttcag caagagaatg aacagcacag tttggtctgt gagcagctat
      961 cccaggaaaa ccaacagaag gcgttggagc tcaaagccaa agaggaagaa gtccatcaaa
     1021 tgcgccttga catcgggaag ctcaacaaaa tcagagaaca aattcataag aaattgcacc
     1081 acaccgaaga tcaaaaggca gaagtcgaac agcacaaaga aaccctaaaa aatcagattg
     1141 tgggattaga gagagaggta gaggcttcaa agaaacaagc agaacttgac agaaaggcaa
     1201 tggacgagct tctaagagaa agggacatac taaataagaa catgcttaag gcggtcaatg
     1261 cgacccagaa gcagacagac ttggtaaagc tccatgaaca agccaagagg aacctggagg
     1321 gagaaatcca gaactacaag gatgaggctc agaagcagag aaagatcatc tttcatctgg
     1381 aaaaggagcg tgaccggtac atcaaccaag ccagtgacct tacgcaaaag gtccttatga
     1441 acatggaaga cataaaagtt cgtgaaacac agatttttga ctacaggaaa aaaatagctg
     1501 aatcagagat taaattaaaa cagcaacaga acctatatga agctgtgaga tcagacagaa
     1561 atctgtatag caaaaatctg gttgaggctc aggatgaaat aacagatatg aagagaaagt
     1621 taaagattat gatccatcag gtagatgagc tgaaagaaga catctctgcc aaagagtccg
     1681 cacttgtgaa gctgcacctg gaacagcagc gaatagaaaa ggaaaaggaa acattgaagg
     1741 ctgagctgca gaagctgaga caacaagccc tggagacaaa acactttatt gaaaagcaag
     1801 aagctgaaga gagaaaactc ctgcgaataa ttgctgaggc tgacggggag aggttgagac
     1861 agaagaagga attagaccag gtcatcagtg agagagatat cctggggtct cagcttgttc
     1921 ggcgcaatga tgagttagct ttgctctatg agaagatcaa gatccaacag tctgtgctga
     1981 ataaagggga gagccagtac aaccagaggt tggaggacat gagaatcctc agacttgaga
     2041 tcaagaagct tcgccgggaa aaggggattc ttgccaggag tatggctaat gttgaagaac
     2101 tcagacagga gttttttcac atgcaaagag aattgttgaa ggagaggaca cgctgccgag
     2161 ccctggagga ggagctggag aatcccctga atgtgcacag atggaggaag ctcgaggcca
     2221 gcgaccccaa tgcatatgag ctgatacaga aaattcacac cctgcagaag cgtctcatca
     2281 gcaagactga agaggtggtt gaaaaagagc tgctcctcca ggaaaaggag aaactctaca
     2341 tggaactaaa gcacgtcttg gcccgccagc ctggacctga ggctgcggaa cagctgaagc
     2401 tgtaccgacg cacgctgcat gacaagaagc agcagctgaa agttttgtct tcagaattga
     2461 atatgtatga agtacagagc aaagaatata aatatgaggt agagaaactt accaatgagc
     2521 tccagaattt aaagaagaaa tacctcgctc agaaacgtaa agaacaactt caaaaaaaca
     2581 aggacacagc acccatggat aacaccttct taatggtcaa accaaatggt cctggtttta
     2641 ctgggggcgg atttcctctc aggtcaacca aaatgacgtt ctaacctgaa gctgctggct
     2701 gtttccagtt gaacaactca tgaaatctgc tctgggacat tttgggggaa tctcaaagtc
     2761 cttggatcat agaactgagt gctgagaatc caggatggaa agaaatgcag aactatcata
     2821 gtcacataca tataagaggg atggtgtttt gtctggttca cgttgatatt aacagatcat
     2881 aattctctct gttcagttag gctgacctat tgcatgaagc aaatcttttg ttgctacccc
     2941 attgattgaa atgtactaga ccttaatttc tttattacag acattggtgt acttgaaggt
     3001 tttatattta aaagtatttt tgaaatgcaa tgtgtcccct ctcaccttat taacaataat
     3061 ctattttaat tattcctcat taacaagtca ttgcatgaga tgagaaagaa ggacaaactc
     3121 ttaagaattt aaaaagtgtt ttgagaatga tttctatatg gaatttcttt tcaggcccgg
     3181 aatgggaaaa tctattccaa agagacacac taataaatac ttcattataa aaaataaaaa
     3241 agaatctttg tagaga
//
