LOCUS       NM_177965               3340 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 418 (CFAP418),
            transcript variant 1, mRNA.
ACCESSION   NM_177965
VERSION     NM_177965.4
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 3340)
  AUTHORS   Clark,A.M., Yu,D., Neiswanger,G., Zhu,D., Zou,J., Maschek,J.A.,
            Burgoyne,T. and Yang,J.
  TITLE     Disruption of CFAP418 interaction with lipids causes widespread
            abnormal membrane-associated cellular processes in retinal
            degenerations
  JOURNAL   JCI Insight 9 (1), e162621 (2024)
   PUBMED   37971880
  REMARK    GeneRIF: Disruption of CFAP418 interaction with lipids causes
            widespread abnormal membrane-associated cellular processes in
            retinal degenerations.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3340)
  AUTHORS   Liu,Y., Chen,J., Sager,R., Sasaki,E. and Hu,H.
  TITLE     Interactions between C8orf37 and FAM161A, Two Ciliary Proteins
            Essential for Photoreceptor Survival
  JOURNAL   Int J Mol Sci 23 (19), 12033 (2022)
   PUBMED   36233334
  REMARK    GeneRIF: Interactions between C8orf37 and FAM161A, Two Ciliary
            Proteins Essential for Photoreceptor Survival.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3340)
  AUTHORS   Fang,Z., Zhao,Z., Eapen,V. and Clarke,R.A.
  TITLE     siRNA Mediate RNA Interference Concordant with Early On-Target
            Transient Transcriptional Interference
  JOURNAL   Genes (Basel) 12 (8), 1290 (2021)
   PUBMED   34440463
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3340)
  AUTHORS   Sharif,A.S., Yu,D., Loertscher,S., Austin,R., Nguyen,K.,
            Mathur,P.D., Clark,A.M., Zou,J., Lobanova,E.S., Arshavsky,V.Y. and
            Yang,J.
  TITLE     C8ORF37 Is Required for Photoreceptor Outer Segment Disc
            Morphogenesis by Maintaining Outer Segment Membrane Protein
            Homeostasis
  JOURNAL   J Neurosci 38 (13), 3160-3176 (2018)
   PUBMED   29440555
REFERENCE   5  (bases 1 to 3340)
  AUTHORS   Katagiri,S., Hayashi,T., Yoshitake,K., Akahori,M., Ikeo,K.,
            Gekka,T., Tsuneoka,H. and Iwata,T.
  TITLE     Novel C8orf37 Mutations in Patients with Early-onset Retinal
            Dystrophy, Macular Atrophy, Cataracts, and High Myopia
  JOURNAL   Ophthalmic Genet 37 (1), 68-75 (2016)
   PUBMED   25113443
  REMARK    GeneRIF: Our study identified two novel truncating mutations of the
            C8orf37 gene in siblings with early-onset retinal dystrophy,
            macular atrophy, cataracts, and high myopia.
REFERENCE   6  (bases 1 to 3340)
  AUTHORS   van Huet,R.A., Estrada-Cuzcano,A., Banin,E., Rotenstreich,Y.,
            Hipp,S., Kohl,S., Hoyng,C.B., den Hollander,A.I., Collin,R.W. and
            Klevering,B.J.
  TITLE     Clinical characteristics of rod and cone photoreceptor dystrophies
            in patients with mutations in the C8orf37 gene
  JOURNAL   Invest Ophthalmol Vis Sci 54 (7), 4683-4690 (2013)
   PUBMED   23788369
  REMARK    GeneRIF: Mutations in C8orf37 give rise to an early or
            adolescent-onset autosomal recessive cone rod dystrophy or
            retinitis pigmentosa phenotype with early macular atrophy.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3340)
  AUTHORS   Estrada-Cuzcano,A., Neveling,K., Kohl,S., Banin,E.,
            Rotenstreich,Y., Sharon,D., Falik-Zaccai,T.C., Hipp,S., Roepman,R.,
            Wissinger,B., Letteboer,S.J., Mans,D.A., Blokland,E.A., Kwint,M.P.,
            Gijsen,S.J., van Huet,R.A., Collin,R.W., Scheffer,H., Veltman,J.A.,
            Zrenner,E., den Hollander,A.I., Klevering,B.J. and Cremers,F.P.
  CONSRTM   European Retinal Disease Consortium
  TITLE     Mutations in C8orf37, encoding a ciliary protein, are associated
            with autosomal-recessive retinal dystrophies with early macular
            involvement
  JOURNAL   Am J Hum Genet 90 (1), 102-109 (2012)
   PUBMED   22177090
  REMARK    GeneRIF: In a ciliary-expressed gene (C8orf37), mutations were
            identified that are associated with autosomal recessive cone-rod
            dystrophy and retinitis pigmentosa with early macular involvement.
REFERENCE   8  (bases 1 to 3340)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   9  (bases 1 to 3340)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (bases 1 to 3340)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA473498.1, DB205618.1,
            AP003466.2 and AA897574.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_177965.3.
            
            Summary: This gene encodes a ubiquitously expressed protein of
            unknown function. It has high levels of mRNA expression in the
            brain, heart, and retina and the protein co-localizes with
            polyglutamylated tubulin at the base of the primary cilium in human
            retinal pigment epithelial cells. Mutations in this gene have been
            associated with autosomal recessive cone-rod dystrophy (arCRD) and
            retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC150301.1, SRR1803614.155999.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000286688.6/ ENSP00000286688.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DA473498.1         34-35
            3-588               DB205618.1         1-586
            589-3174            AP003466.2         107921-110506       c
            3175-3340           AA897574.1         6-171               c
FEATURES             Location/Qualifiers
     source          1..3340
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     gene            1..3340
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
                     /note="cilia and flagella associated protein 418"
                     /db_xref="GeneID:157657"
                     /db_xref="HGNC:HGNC:27232"
                     /db_xref="MIM:614477"
     exon            1..167
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..636
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein C8orf37; Bardet-Biedl syndrome 21"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 418
                     isoform 1"
                     /protein_id="NP_808880.1"
                     /db_xref="CCDS:CCDS6268.1"
                     /db_xref="GeneID:157657"
                     /db_xref="HGNC:HGNC:27232"
                     /db_xref="MIM:614477"
                     /translation="MAEDLDELLDEVESKFCTPDLLRRGMVEQPKGCGGGTHSSDRNQ
                     AKAKETLRSTETFKKEDDLDSLINEILEEPNLDKKPSKLKSKSSGNTSVRASIEGLGK
                     SCSPVYLGGSSIPCGIGTNISWRACDHLRCIACDFLVVSYDDYMWDKSCDYLFFRNNM
                     PEFHKLKAKLIKKKGTRAYACQCSWRTIEEVTDLQTDHQLRWVCGKH"
     exon            168..255
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
                     /inference="alignment:Splign:2.1.0"
     exon            256..320
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
                     /inference="alignment:Splign:2.1.0"
     exon            321..386
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
                     /inference="alignment:Splign:2.1.0"
     exon            387..482
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
                     /inference="alignment:Splign:2.1.0"
     exon            483..3340
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3271..3276
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
                     /note="hexamer: AATAAA"
     polyA_site      3289
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
                     /note="major polyA site"
     regulatory      3312..3317
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
                     /note="hexamer: AGTAAA"
     polyA_site      3340
                     /gene="CFAP418"
                     /gene_synonym="BBS21; C8orf37; CORD16; FAP418; MOT25;
                     RP64; smalltalk"
ORIGIN      
        1 aggcgattca agatggcgga ggacctggac gagctcttgg atgaagtcga gtccaagttt
       61 tgcacacctg accttctaag acggggtatg gtcgagcagc ccaaaggctg cggcggcggc
      121 acccacagta gcgaccggaa ccaagccaag gcgaaagaga cgctcagatc aacagaaaca
      181 tttaaaaaag aagatgatct tgacagtctt attaatgaaa tacttgaaga gcccaacttg
      241 gacaaaaaac cctctaaatt aaaatctaaa tcttcaggta acacatctgt cagagcttcc
      301 attgaaggcc ttggtaaaag ttgcagtccg gtgtaccttg gtggaagctc tattccatgt
      361 gggattggaa caaatatttc atggagagca tgtgaccatc tgcgttgtat agcctgtgat
      421 ttcttggtag tcagctatga tgactatatg tgggacaaat cgtgtgatta tctgtttttc
      481 aggaacaaca tgccagaatt tcacaaatta aaagcaaagt tgataaagaa gaaaggaaca
      541 cgggcatatg cctgccagtg tagctggaga actattgaag aagtgactga ccttcagaca
      601 gatcatcagc ttcgctgggt ttgtggtaaa cattaagaat gcagactgca cattcggaca
      661 gatgcatcca tgagagtggt ctccatgaat catcatcatg tttagacaat agtccctagc
      721 aataccattc cctgtgggaa aaggcagtga attttattga tacaactaca tacatttttg
      781 aagaccaaat ggactaagga agatcatgta ttataacact ttggaattat tcctgataca
      841 tggatgtttc acttagtaac aggcatctac attctttact aatctgtctt ctgtttaata
      901 gaggtttgat tatggagttc catacaaata tctagttttt cattagcaac tgcaatattg
      961 attgctaata cgtttagcaa atcattcccc aacttgtagc agttaaagtg gataaagccg
     1021 gccagggcaa agagatcatt taggggtgtc tacaacactt cttccagtca gatcttttgt
     1081 tgccaaagat cataatttgg acatggcaga aaccaggtga tcagtggctg actgaagggt
     1141 gttcagaagt agttacaggt attttgcaaa aacactgcct catagctgat cttacctcat
     1201 caactcaaag caatgttatg cacaatatta aatacatgtt accagtttta gcttattttt
     1261 ccctcttttg ttcatttaac tatcaaaagt tattttctat tttgattacc caataatata
     1321 taaaaagagt ttgatgcacc caaaatcaca aaaatcctaa tacatacagg ttattgttgg
     1381 attttccaag tactttctat cctttaatgc ctaaaactcc atcaagggaa gtaaacagca
     1441 agtaatataa tttttcaggc agcctgtgga cttctctggt aggatcaggt tgacatatcg
     1501 tttattaggt gagtaagtga aaagacaagt aaagcataac tgaaccaaca ggtaacctgt
     1561 tgggctcctt cctgacatca ctgagatctg aggagcccta caatagcagc acattcagga
     1621 aatcaggtcc ctcaaaattt ctagctccca accccattga gagattttgg gagctttcca
     1681 atctgccaca aactccctgc tacatatgta ctatatagtt caaatgtgtg atacagagca
     1741 ccctgaaagg gaataattga aacaaagtta taatcttctt agtcttatgc taaatttatt
     1801 ccagccaccc tactgaaggg aggaagatct gatcattaga atccttttcc tagccatgac
     1861 acatttacat acttgtaaaa tttattgtag taagtctagc attgcaacag aatagatctt
     1921 ataatggcca atcctcacac ttttgtatta aggatattat gacagactaa gcatggtagc
     1981 tcacgcctgt aatcccagca ctttgggagg ctgaggcagg cagatcagct gaggtcagga
     2041 gttcaagacc agcctggcca acatgataaa acaccatctc tactaaaaat acaaaaatta
     2101 gctgggcgcg gtggtgcatg cctgtaatcc caactactcg ggaggccgag gcaggaaaat
     2161 ttattgaacc tgggaggcag aggttgtagt gagccaaggt cgcgccactg cgctccagcc
     2221 tggacaacac agtgagactc tgtctcaaaa aaaaaaaaaa gacattatga cagattttat
     2281 cttttaataa aaatgtatta tatccctaaa gttatatcta tatgtaattg agtcagaaac
     2341 ctagggggat gtcgattgaa gtcgactgct ggaaaaaaat agcagagcaa caagatccac
     2401 acatttagaa cctcatagaa tttgacacat tattcataat ggtgcaattc tttctttttt
     2461 attccagtaa gcaaatttac taaatcacta atttgaaaaa aaaaattttt tttttgagat
     2521 ggagtgtcac tctgttgccg ggctggagtg cagtggcacg atctctgctc actgcaacct
     2581 ccgcctcgca gcttcaagtg attgtcctgc ctcagcctcc ccagtagctg ggattacagg
     2641 cacacaccac cacgcccagc taatttttgt atttttaata gagacagggt ttcaccatgt
     2701 tggccagaat gatgtcgatc tcctgaactc gtgatccgcc cgcctcagcc tcccaaagta
     2761 gcctacattg cctctacttt gaagggacaa agttgtcctg gttttttttt cccttttatt
     2821 atttcattat aactatccta aaacttacat acattgccta tgtttggcat tccataacat
     2881 aataattata ataatccccc aatgtcagaa atgtatgtgt gagttcccat gtttattggc
     2941 aatttataag ctttttaata ttgtactatt ttaaactaaa atgtagaaag aatattatgt
     3001 ttatatacag tcagataaat tattaactgt tgtaatttaa gctgaaaatg aaactatttt
     3061 agtatcagta tagaagaaaa gtatagtttc taatcatcta taattttaaa atgcaaagcc
     3121 tataaaactt tcaagatgtt ttgcctgttt gtttttaaga tttataataa ttttctatct
     3181 ttagcaagta gctattttta agccaggtaa cttctttatt tgaactgtat tatactctca
     3241 gaccctcatc ctgcctagaa atgaataagt aataaataat tactctgtat tatttacttc
     3301 ttttatttta tagtaaaata ttcatttgga tggacattaa
//
