LOCUS       NM_001014979            1363 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 119 (CFAP119),
            transcript variant 1, mRNA.
ACCESSION   NM_001014979 XM_373675
VERSION     NM_001014979.3
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 1363)
  AUTHORS   Iso-Touru,T., Wurmser,C., Venhoranta,H., Hiltpold,M.,
            Savolainen,T., Sironen,A., Fischer,K., Flisikowski,K., Fries,R.,
            Vicente-Carrillo,A., Alvarez-Rodriguez,M., Nagy,S., Mutikainen,M.,
            Peippo,J., Taponen,J., Sahana,G., Guldbrandtsen,B., Simonen,H.,
            Rodriguez-Martinez,H., Andersson,M. and Pausch,H.
  TITLE     A splice donor variant in CCDC189 is associated with asthenospermia
            in Nordic Red dairy cattle
  JOURNAL   BMC Genomics 20 (1), 286 (2019)
   PUBMED   30975085
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC092491.1, BC128129.1 and BC063391.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001014979.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC128129.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000543610.6/ ENSP00000437532.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-314               BC092491.1         160-473
            315-1319            BC128129.1         1-1005
            1320-1363           BC063391.1         1490-1533
FEATURES             Location/Qualifiers
     source          1..1363
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1363
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="cilia and flagella associated protein 119"
                     /db_xref="GeneID:90835"
                     /db_xref="HGNC:HGNC:28078"
                     /db_xref="MIM:618318"
     exon            1..518
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /inference="alignment:Splign:2.1.0"
     CDS             315..1310
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 189; coiled-coil
                     domain containing 189; spergen-4"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 119
                     isoform 1"
                     /protein_id="NP_001014979.2"
                     /db_xref="CCDS:CCDS32434.2"
                     /db_xref="GeneID:90835"
                     /db_xref="HGNC:HGNC:28078"
                     /db_xref="MIM:618318"
                     /translation="MLNRKTSHFLGMRVQSELEHLSELRREAGKDRSSVHGSAARTRA
                     SVRTQWTTAAAAKADEDPGANLFPPPLPRPRICMWKYLDVHSMHQLEKTTNAEMREVL
                     AELLELGCPEQSLRDAITLDLFCHALIFCRQQGFSLEQTSAACALLQDLHKACIATPL
                     GNVEECYRYFTSVLFCHGVRRPPFSIDLFKEEQLLALEDYVVNTYFRHFKLYKYVFTP
                     QVRLDLSLTYMGLQPPKLWPESETEKEESKEMEEQAVTPQKEELETVAPPEPEPSHIH
                     VLRAYIKTQVNKELEQLQGLVEERLKASEERLSSKLTALERPFQLPPGKGKSKTK"
     exon            519..550
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /inference="alignment:Splign:2.1.0"
     exon            551..613
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /inference="alignment:Splign:2.1.0"
     exon            614..783
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /inference="alignment:Splign:2.1.0"
     exon            784..854
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /inference="alignment:Splign:2.1.0"
     exon            855..971
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /inference="alignment:Splign:2.1.0"
     exon            972..1041
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..1131
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..1363
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1328..1333
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="hexamer: AATAAA"
     polyA_site      1363
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="major polyA site"
ORIGIN      
        1 gtattagcaa cctggaagag agggcgccca ggtgggcact cgcaacttct cacgtatctg
       61 cgcgttctct tcgctcccac tggcgtgagc ctgcgctttc cgccttcctt ccctcacaag
      121 cccccttggc aaccgtcgcc gttgagacgg agggagacgc ccccacggat tcgccccgcc
      181 gcgcctctcc gcgcgtagat tggccggagc gaggcgaacg ggcccggcct tggtagccgc
      241 cgaccgagcg ctggctgtcc tggaacctag gcggcgggag cccggggcgc ctcgcggcac
      301 ggaagagcgg cgagatgctc aaccgcaaga ccagccactt tttgggaatg agggtgcagt
      361 cggagcttga acatctctcc gagctgcggc gggaagcggg gaaggatcgc agctcagtgc
      421 atgggtcggc cgcgcggacg cgtgcgagtg tgcggactca gtggacgacg gcggcggcgg
      481 cgaaagcgga tgaagacccc ggagccaact tgtttccgcc gccgctgccc cgaccccgga
      541 tctgcatgtg gaagtacctg gacgtccatt ccatgcacca gctggagaag accaccaatg
      601 ctgagatgag ggaggtgctg gctgagctgc tggagctagg gtgtcctgag cagagcctga
      661 gggacgccat caccctggac ctcttctgcc acgcgctcat tttctgccgc cagcagggct
      721 tctcactgga gcagacgtca gcggcttgtg ccctgctcca ggatcttcac aaggcttgta
      781 ttgcaacccc cttgggcaac gtggaggagt gctaccgcta cttcaccagt gtcctttttt
      841 gccatggagt caggcggcct cctttcagca tcgacctctt caaagaggaa cagctgctgg
      901 ccttggaaga ctacgtggtc aacacttact tccgccactt caagctctat aaatacgtct
      961 tcacacccca ggtgcggctg gatctgtctt tgacttacat ggggctacag ccacccaaac
     1021 tgtggccaga gagtgagacg gagaaagaag aaagcaagga gatggaggag caggcagtta
     1081 ccccgcagaa agaggaacta gagacagtgg ccccaccaga gccagagcca agccacatcc
     1141 acgtcctccg agcctacatc aagacccaag tgaacaaaga gctggagcag ctccaggggc
     1201 tggtggagga gcggctcaag gccagcgagg aaaggctcag cagcaagttg actgcactag
     1261 agcggccctt ccagctacct ccgggtaaag gcaagagcaa gaccaagtga cccccaacat
     1321 tttccccaat aaaggtctgg gccagaatgg caccatccct gca
//
