LOCUS       NM_001282957            1725 bp    mRNA    linear   PRI 21-MAR-2025
DEFINITION  Homo sapiens cilia and flagella associated protein 77 (CFAP77),
            transcript variant 2, mRNA.
ACCESSION   NM_001282957 XM_005272198
VERSION     NM_001282957.2
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 1725)
  AUTHORS   Gui,M., Croft,J.T., Zabeo,D., Acharya,V., Kollman,J.M.,
            Burgoyne,T., Hoog,J.L. and Brown,A.
  TITLE     SPACA9 is a lumenal protein of human ciliary singlet and doublet
            microtubules
  JOURNAL   Proc Natl Acad Sci U S A 119 (41), e2207605119 (2022)
   PUBMED   36191189
REFERENCE   2  (bases 1 to 1725)
  AUTHORS   Lindskog,C., Fagerberg,L., Hallstrom,B., Edlund,K., Hellwig,B.,
            Rahnenfuhrer,J., Kampf,C., Uhlen,M., Ponten,F. and Micke,P.
  TITLE     The lung-specific proteome defined by integration of
            transcriptomics and antibody-based profiling
  JOURNAL   FASEB J 28 (12), 5184-5196 (2014)
   PUBMED   25169055
REFERENCE   3  (bases 1 to 1725)
  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   4  (bases 1 to 1725)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 1725)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  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
            HY017665.1, BC118593.1 and AL354735.14.
            
            On Jun 2, 2019 this sequence version replaced NM_001282957.1.
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            5' coding region compared to variant 1. The encoded isoform (2) is
            shorter than isoform 1.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.709894.1,
                                           SRR3476690.558478.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393216.3/ ENSP00000376909.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                HY017665.1         17-33
            18-1338             BC118593.1         1-1321
            1339-1725           AL354735.14        146179-146565
FEATURES             Location/Qualifiers
     source          1..1725
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     gene            1..1725
                     /gene="CFAP77"
                     /gene_synonym="C9orf171"
                     /note="cilia and flagella associated protein 77"
                     /db_xref="GeneID:389799"
                     /db_xref="HGNC:HGNC:33776"
                     /db_xref="MIM:621136"
     exon            1..256
                     /gene="CFAP77"
                     /gene_synonym="C9orf171"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..916
                     /gene="CFAP77"
                     /gene_synonym="C9orf171"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 77
                     isoform 2"
                     /protein_id="NP_001269886.1"
                     /db_xref="CCDS:CCDS65167.1"
                     /db_xref="GeneID:389799"
                     /db_xref="HGNC:HGNC:33776"
                     /db_xref="MIM:621136"
                     /translation="MPEARSSGPDLTRWRKQQQPVRRTVSQVCPPPRRPLTVADIRSG
                     MENERLGVVRDSMFQNPLIVKAELGKPRERSYSLPGINFNYGLYIRGLDGGVPEAIGR
                     WNVFKQQPTCPHELTRNYIAMNRGAVKAGLVTARENLLYRQLNDIRISDQDDRRMKKE
                     PPPLPPNMTFGIRARPSTPFFDLLQHRYLQLWVQEQKATQKAIKLEKKQKVVLGKLYE
                     TRSSQLRKYKPPVKLDTLWHMPHFQKVGRHLDTFPTEADRQRALKAHREECAVRQGTL
                     RMGNYTHP"
     exon            257..356
                     /gene="CFAP77"
                     /gene_synonym="C9orf171"
                     /inference="alignment:Splign:2.1.0"
     exon            357..585
                     /gene="CFAP77"
                     /gene_synonym="C9orf171"
                     /inference="alignment:Splign:2.1.0"
     exon            586..691
                     /gene="CFAP77"
                     /gene_synonym="C9orf171"
                     /inference="alignment:Splign:2.1.0"
     exon            692..793
                     /gene="CFAP77"
                     /gene_synonym="C9orf171"
                     /inference="alignment:Splign:2.1.0"
     exon            794..1725
                     /gene="CFAP77"
                     /gene_synonym="C9orf171"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1701..1706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP77"
                     /gene_synonym="C9orf171"
                     /note="hexamer: ATTAAA"
     polyA_site      1725
                     /gene="CFAP77"
                     /gene_synonym="C9orf171"
                     /note="major polyA site"
ORIGIN      
        1 gcccgacgtg gggaagcgcg cccaaaccag cccgcgggcc ggctccccgg cgacctcaag
       61 gatgccagag gccaggagct ccggcccgga cctcacgcga tggaggaagc agcagcagcc
      121 tgtgcgccgc acggtcagcc aggtctgccc gcccccgcgg cggcccctga ccgtggcgga
      181 catccgttcc ggcatggaga acgagcggct gggggtcgtg cgggactcca tgtttcagaa
      241 ccctctcatc gtcaaggctg aactcggcaa gccccgggaa agaagctaca gtctgcccgg
      301 cattaatttt aattatggac tctacatccg agggcttgac ggaggagtcc ctgaagccat
      361 cggacgctgg aacgtgttca agcagcagcc cacctgcccc cacgagctga cccggaatta
      421 tatcgcaatg aaccgcgggg cggtgaaagc cggcctggtg actgcccggg agaacttgct
      481 ctaccgtcag ctcaatgaca tccgcatcag tgaccaggat gaccggcgca tgaagaaaga
      541 gccgccccct ctccctccaa acatgacatt tgggatccgg gcacggcctt ccacaccctt
      601 ctttgatctg ctgcagcacc ggtacctgca gctgtgggta caggaacaaa aggccaccca
      661 gaaagccatc aaactggaga agaagcagaa ggtggtcctt gggaagctgt atgagacccg
      721 gagcagtcag ctgaggaagt acaagccgcc cgtgaagctg gacaccctct ggcacatgcc
      781 tcacttccag aaggtgggcc gccaccttga tacgttcccc acggaggccg atcgccagag
      841 agcattaaaa gcccaccggg aagagtgtgc cgtgcgccag gggaccctgc ggatgggcaa
      901 ctacacccac ccctagcccc tccctcccct gccacaagaa gccatcttga catagtggaa
      961 aattcccaga aggactccct atcttgcccc aaccctgaca ttcccccatt tttatgcagg
     1021 ttctgcttca aggagctcag attcaagtct taggctaatt gtttttggta aaagtccccc
     1081 cttttaggtt agccaacatt agtctccact tagccccagt gaccctctac ctggagcctc
     1141 ctcctctcct cctccttctc ctcctagggc aggctcaccc tgcctcttct caagccctca
     1201 cctgccaaga caagcccaaa ttacaagaca attttttaga ctccaggcta agggtcgatt
     1261 ccatggctct gcccattaag tgttaagaac gacctgtgta tttgctgcag aaagcatgac
     1321 agtgacgtgc tttgaaagcc ctcattttct attccaaaca tgagttttaa ttgctctttt
     1381 tgggatgcct gatgtctcat cacggcagta ttatctctct gggacctctg acagcaggaa
     1441 gagccaatgg ttcattactc gagcctgccc ccgcctcctc agtgctgggg ccccgtcaat
     1501 caagcaggcc aagttggact cctcccccag gactgacttt ggaaggtcaa cccactctgg
     1561 aaaaagcctt ccaggccagc gggtagactg ctgaacacag gctgctgagc ttctcagccg
     1621 aattcctgga cacttcctca ctcggtcttt ccgtgtgttc tttggattct ctctgaaaat
     1681 tttatgctga tctattttaa attaaaaatg ctatttgtca tcctc
//
