LOCUS       NM_001320865            1355 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens ciliogenesis associated TTC17 interacting protein
            (CATIP), transcript variant 1, mRNA.
ACCESSION   NM_001320865 XM_011511147
VERSION     NM_001320865.2
KEYWORDS    RefSeq.
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 1355)
  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 1355)
  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 1355)
  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 May 31, 2019 this sequence version replaced NM_001320865.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2144120,
                              SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                AC021016.5         102732-102784
            54-179              AC021016.5         102937-103062
            180-380             AC021016.5         103409-103609
            381-436             AC021016.5         103912-103967
            437-523             AC021016.5         106448-106534
            524-691             AC021016.5         108610-108777
            692-816             AC021016.5         110503-110627
            817-893             AC021016.5         112899-112975
            894-982             AC021016.5         113305-113393
            983-1355            AC021016.5         113597-113969
FEATURES             Location/Qualifiers
     source          1..1355
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..1355
                     /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..1225
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="ciliogenesis-associated TTC17-interacting
                     protein isoform 1"
                     /protein_id="NP_001307794.1"
                     /db_xref="GeneID:375307"
                     /db_xref="HGNC:HGNC:25062"
                     /db_xref="MIM:619387"
                     /translation="MSSKVYSTGSAILASHPSVGSRAKDHQPSGPECLPLPEANAEAI
                     DFLSSLHKEELQMLFFSETLAMVSDTGEPQGELTIEVQRGKYQEKLGMLTYCLFVHAS
                     SRGFLDKMLCGNSLLGYLSEKLELMEQHSQDFIKFLILPMERKMSLLKQDDQLAVTRS
                     IKEGEEVKTGVTSFPWSSIKGFISEAANLVLLRVMAWRRMVPSNARFLTLDTEGKLCY
                     LTYQNLGFQTIQVDHQQAEVFIVEQTVHAEEGIPMSCQYYLLSDGHLAKRIQVGSPGC
                     CIITKMPILREEDEIEPRPVFEKKPLVWEEDMELYSKFLDRKEELRLGHASYLRQHPE
                     AHALISDFLLFLLLRQPEDVVTFAAEFFGPFDPWRPSSPALGSSHRPNPFRSLEPEGD
                     ARSGAA"
     exon            54..179
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            180..380
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            381..436
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            437..523
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            524..691
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            692..816
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            817..893
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            894..982
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1355
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1327..1332
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /note="hexamer: AATAAA"
     polyA_site      1355
                     /gene="CATIP"
                     /gene_synonym="C2orf62"
                     /note="major polyA site"
ORIGIN      
        1 acagaccggg tagaggcagg cccacagcat gtcctccaag gtttactcca cagggtctgc
       61 catcttagcc tctcatccct ctgtaggctc cagagctaag gaccaccagc cctcgggtcc
      121 ggagtgtctg ccactcccag aggccaatgc tgaagccatc gacttcctca gctccctcca
      181 caaggaggag ctacagatgc tgttcttctc tgagacgctg gccatggtct cagacaccgg
      241 ggagcctcag ggagagctga ccattgaggt gcagagaggg aaataccagg aaaaactcgg
      301 catgctgaca tactgcctct tcgtgcatgc ctctagccga ggcttcttgg acaaaatgct
      361 ctgcggaaat tccctcctgg gctatctctc agagaagctg gagctcatgg aacagcacag
      421 ccaagacttc atcaagttcc tcatcctccc catggaacgg aagatgagtt tgctgaagca
      481 ggatgatcag ctggctgtga ccagaagtat caaggagggt gaggaagtga agactggagt
      541 gacttctttc ccctggagct caatcaaggg cttcatctca gaggctgcca acctggtgct
      601 gctcagggtg atggcctggc ggcggatggt gcccagcaat gcccgcttcc tgaccttgga
      661 caccgagggc aaactctgct atttgaccta tcaaaacctg ggcttccaga ccatccaggt
      721 agaccatcag caggctgaag tcttcatcgt ggagcagact gtccacgcgg aggagggcat
      781 ccccatgtcc tgccagtact acctgctctc cgatgggcac ctggccaaga gaatacaggt
      841 gggctcccca gggtgctgca tcatcaccaa gatgcccatc ttgagggaag aggatgagat
      901 tgagccacgc ccagtgtttg agaagaagcc cctggtatgg gaggaggata tggagctcta
      961 ttcgaagttc ctggaccgga aggaggagct ccggctcggc cacgccagct atctgcggca
     1021 gcaccccgaa gcccacgcgc tcatctccga cttcctgctc ttcctgctgc tgcgccagcc
     1081 ggaggacgtg gtcaccttcg ccgccgagtt cttcggcccc ttcgacccgt ggcgtccgtc
     1141 gtcaccggcc ttgggctcct cccaccggcc caaccctttc cgctccctgg agccggaggg
     1201 agacgcccgc tcgggggcgg cctaagcggg gcccaggccc ggacagggca ggaaaccagg
     1261 ggtcgggctg ggacgcgggc gggacgcgcc ggggcgggtg cgctttccgg gctgcggttt
     1321 tgggggaata aatggggccc tcccgcttct ctgca
//
