LOCUS       NM_198559               1322 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens ciliogenesis associated TTC17 interacting protein
            (CATIP), transcript variant 2, mRNA.
ACCESSION   NM_198559 XM_351514
VERSION     NM_198559.2
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 1322)
  AUTHORS   Arafat,M., Harlev,A., Har-Vardi,I., Levitas,E., Priel,T.,
            Gershoni,M., Searby,C., Sheffield,V.C., Lunenfeld,E. and Parvari,R.
  TITLE     Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by
            affecting actin dynamics
  JOURNAL   J Med Genet (2020) In press
   PUBMED   32503832
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   2  (bases 1 to 1322)
  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   3  (bases 1 to 1322)
  AUTHORS   Bontems,F., Fish,R.J., Borlat,I., Lembo,F., Chocu,S., Chalmel,F.,
            Borg,J.P., Pineau,C., Neerman-Arbez,M., Bairoch,A. and Lane,L.
  TITLE     C2orf62 and TTC17 are involved in actin organization and
            ciliogenesis in zebrafish and human
  JOURNAL   PLoS One 9 (1), e86476 (2014)
   PUBMED   24475127
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC021016.5.
            
            On Nov 23, 2018 this sequence version replaced NM_198559.1.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction in the 5' end compared to variant 1. The resulting
            isoform (2) has the same N- and C-termini but is shorter compared
            to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC052750.1, BM924708.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000289388.4/ ENSP00000289388.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                AC021016.5         102732-102784
            54-146              AC021016.5         102970-103062
            147-347             AC021016.5         103409-103609
            348-403             AC021016.5         103912-103967
            404-490             AC021016.5         106448-106534
            491-658             AC021016.5         108610-108777
            659-783             AC021016.5         110503-110627
            784-860             AC021016.5         112899-112975
            861-949             AC021016.5         113305-113393
            950-1322            AC021016.5         113597-113969
FEATURES             Location/Qualifiers
     source          1..1322
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..1322
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /note="ciliogenesis associated TTC17 interacting protein"
                     /db_xref="GeneID:375307"
                     /db_xref="HGNC:HGNC:25062"
                     /db_xref="MIM:619387"
     exon            1..53
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1192
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="ciliogenesis-associated TTC17-interacting
                     protein isoform 2"
                     /protein_id="NP_940961.1"
                     /db_xref="CCDS:CCDS2414.1"
                     /db_xref="GeneID:375307"
                     /db_xref="HGNC:HGNC:25062"
                     /db_xref="MIM:619387"
                     /translation="MSSKVYSTGSRAKDHQPSGPECLPLPEANAEAIDFLSSLHKEEL
                     QMLFFSETLAMVSDTGEPQGELTIEVQRGKYQEKLGMLTYCLFVHASSRGFLDKMLCG
                     NSLLGYLSEKLELMEQHSQDFIKFLILPMERKMSLLKQDDQLAVTRSIKEGEEVKTGV
                     TSFPWSSIKGFISEAANLVLLRVMAWRRMVPSNARFLTLDTEGKLCYLTYQNLGFQTI
                     QVDHQQAEVFIVEQTVHAEEGIPMSCQYYLLSDGHLAKRIQVGSPGCCIITKMPILRE
                     EDEIEPRPVFEKKPLVWEEDMELYSKFLDRKEELRLGHASYLRQHPEAHALISDFLLF
                     LLLRQPEDVVTFAAEFFGPFDPWRPSSPALGSSHRPNPFRSLEPEGDARSGAA"
     exon            54..146
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            147..347
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            348..403
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            404..490
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            491..658
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            659..783
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            784..860
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            861..949
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1322
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1294..1299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /note="hexamer: AATAAA"
     polyA_site      1322
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /note="major polyA site"
ORIGIN      
        1 acagaccggg tagaggcagg cccacagcat gtcctccaag gtttactcca caggctccag
       61 agctaaggac caccagccct cgggtccgga gtgtctgcca ctcccagagg ccaatgctga
      121 agccatcgac ttcctcagct ccctccacaa ggaggagcta cagatgctgt tcttctctga
      181 gacgctggcc atggtctcag acaccgggga gcctcaggga gagctgacca ttgaggtgca
      241 gagagggaaa taccaggaaa aactcggcat gctgacatac tgcctcttcg tgcatgcctc
      301 tagccgaggc ttcttggaca aaatgctctg cggaaattcc ctcctgggct atctctcaga
      361 gaagctggag ctcatggaac agcacagcca agacttcatc aagttcctca tcctccccat
      421 ggaacggaag atgagtttgc tgaagcagga tgatcagctg gctgtgacca gaagtatcaa
      481 ggagggtgag gaagtgaaga ctggagtgac ttctttcccc tggagctcaa tcaagggctt
      541 catctcagag gctgccaacc tggtgctgct cagggtgatg gcctggcggc ggatggtgcc
      601 cagcaatgcc cgcttcctga ccttggacac cgagggcaaa ctctgctatt tgacctatca
      661 aaacctgggc ttccagacca tccaggtaga ccatcagcag gctgaagtct tcatcgtgga
      721 gcagactgtc cacgcggagg agggcatccc catgtcctgc cagtactacc tgctctccga
      781 tgggcacctg gccaagagaa tacaggtggg ctccccaggg tgctgcatca tcaccaagat
      841 gcccatcttg agggaagagg atgagattga gccacgccca gtgtttgaga agaagcccct
      901 ggtatgggag gaggatatgg agctctattc gaagttcctg gaccggaagg aggagctccg
      961 gctcggccac gccagctatc tgcggcagca ccccgaagcc cacgcgctca tctccgactt
     1021 cctgctcttc ctgctgctgc gccagccgga ggacgtggtc accttcgccg ccgagttctt
     1081 cggccccttc gacccgtggc gtccgtcgtc accggccttg ggctcctccc accggcccaa
     1141 ccctttccgc tccctggagc cggagggaga cgcccgctcg ggggcggcct aagcggggcc
     1201 caggcccgga cagggcagga aaccaggggt cgggctggga cgcgggcggg acgcgccggg
     1261 gcgggtgcgc tttccgggct gcggttttgg gggaataaat ggggccctcc cgcttctctg
     1321 ca
//
