LOCUS       NM_001297645            2122 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens CWC27 spliceosome associated cyclophilin (CWC27),
            transcript variant 3, mRNA.
ACCESSION   NM_001297645 XM_005248399
VERSION     NM_001297645.2
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 2122)
  AUTHORS   Yassin,S.H., Henderson,R., Lenberg,J., Murillo,V., Murdock,D.R.,
            Friedman,J., Jones,M.C., Wigby,K. and Borooah,S.
  TITLE     Further delineation of the CWC27-associated spliceosomeopathy: Case
            report and review of the literature
  JOURNAL   Am J Med Genet A 191 (5), 1378-1383 (2023)
   PUBMED   36718996
  REMARK    GeneRIF: Further delineation of the CWC27-associated
            spliceosomeopathy: Case report and review of the literature.
            Review article
REFERENCE   2  (bases 1 to 2122)
  AUTHORS   Busetto,V., Barbosa,I., Basquin,J., Marquenet,E., Hocq,R.,
            Hennion,M., Paternina,J.A., Namane,A., Conti,E., Bensaude,O. and Le
            Hir,H.
  TITLE     Structural and functional insights into CWC27/CWC22 heterodimer
            linking the exon junction complex to spliceosomes
  JOURNAL   Nucleic Acids Res 48 (10), 5670-5683 (2020)
   PUBMED   32329775
  REMARK    GeneRIF: Structural and functional insights into CWC27/CWC22
            heterodimer linking the exon junction complex to spliceosomes.
REFERENCE   3  (bases 1 to 2122)
  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   4  (bases 1 to 2122)
  AUTHORS   Zhang,X., Yan,C., Zhan,X., Li,L., Lei,J. and Shi,Y.
  TITLE     Structure of the human activated spliceosome in three
            conformational states
  JOURNAL   Cell Res 28 (3), 307-322 (2018)
   PUBMED   29360106
REFERENCE   5  (bases 1 to 2122)
  AUTHORS   Xu,M., Xie,Y.A., Abouzeid,H., Gordon,C.T., Fiorentino,A., Sun,Z.,
            Lehman,A., Osman,I.S., Dharmat,R., Riveiro-Alvarez,R.,
            Bapst-Wicht,L., Babino,D., Arno,G., Busetto,V., Zhao,L., Li,H.,
            Lopez-Martinez,M.A., Azevedo,L.F., Hubert,L., Pontikos,N.,
            Eblimit,A., Lorda-Sanchez,I., Kheir,V., Plagnol,V., Oufadem,M.,
            Soens,Z.T., Yang,L., Bole-Feysot,C., Pfundt,R., Allaman-Pillet,N.,
            Nitschke,P., Cheetham,M.E., Lyonnet,S., Agrawal,S.A., Li,H.,
            Pinton,G., Michaelides,M., Besmond,C., Li,Y., Yuan,Z., von
            Lintig,J., Webster,A.R., Le Hir,H., Stoilov,P., Amiel,J.,
            Hardcastle,A.J., Ayuso,C., Sui,R., Chen,R., Allikmets,R. and
            Schorderet,D.F.
  CONSRTM   UK Inherited Retinal Dystrophy Consortium
  TITLE     Mutations in the Spliceosome Component CWC27 Cause Retinal
            Degeneration with or without Additional Developmental Anomalies
  JOURNAL   Am J Hum Genet 100 (4), 592-604 (2017)
   PUBMED   28285769
  REMARK    GeneRIF: By whole-exome sequencing, recessive protein-truncating
            mutations in CWC27 were found in seven unrelated families that show
            a range of clinical phenotypes, including retinal degeneration,
            brachydactyly, craniofacial abnormalities, short stature, and
            neurologic defects.
REFERENCE   6  (bases 1 to 2122)
  AUTHORS   Wang,M., Li,Z., Chu,H., Lv,Q., Ye,D., Ding,Q., Xu,C., Guo,J.,
            Du,M., Chen,J., Song,Z., Yin,C., Qin,C., Gu,C., Zhu,Y., Xia,G.,
            Liu,F., Zhang,Z., Yuan,L., Fu,G., Hu,Z., Tong,N., Shen,J., Liu,K.,
            Sun,J., Sun,Y., Li,J., Li,X., Shen,H., Xu,J., Shi,Y. and Zhang,Z.
  TITLE     Genome-Wide Association Study of Bladder Cancer in a Chinese Cohort
            Reveals a New Susceptibility Locus at 5q12.3
  JOURNAL   Cancer Res 76 (11), 3277-3284 (2016)
   PUBMED   27206850
  REMARK    GeneRIF: CWC27 overexpression is associated with Bladder Cancer.
REFERENCE   7  (bases 1 to 2122)
  AUTHORS   Ulrich,A. and Wahl,M.C.
  TITLE     Structure and evolution of the spliceosomal peptidyl-prolyl
            cis-trans isomerase Cwc27
  JOURNAL   Acta Crystallogr D Biol Crystallogr 70 (Pt 12), 3110-3123 (2014)
   PUBMED   25478830
  REMARK    GeneRIF: The crystal structure of a relatively protease-resistant
            N-terminal fragment of human Cwc27 containing the cyclophilin-type
            peptidyl-prolyl cis-trans isomerase domain was determined at 2.0 A
            resolution.
REFERENCE   8  (bases 1 to 2122)
  AUTHORS   Davis,T.L., Walker,J.R., Campagna-Slater,V., Finerty,P.J.,
            Paramanathan,R., Bernstein,G., MacKenzie,F., Tempel,W., Ouyang,H.,
            Lee,W.H., Eisenmesser,E.Z. and Dhe-Paganon,S.
  TITLE     Structural and biochemical characterization of the human
            cyclophilin family of peptidyl-prolyl isomerases
  JOURNAL   PLoS Biol 8 (7), e1000439 (2010)
   PUBMED   20676357
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2122)
  AUTHORS   Fabrizio,P., Dannenberg,J., Dube,P., Kastner,B., Stark,H.,
            Urlaub,H. and Luhrmann,R.
  TITLE     The evolutionarily conserved core design of the catalytic
            activation step of the yeast spliceosome
  JOURNAL   Mol Cell 36 (4), 593-608 (2009)
   PUBMED   19941820
REFERENCE   10 (bases 1 to 2122)
  AUTHORS   Jurica,M.S., Licklider,L.J., Gygi,S.R., Grigorieff,N. and
            Moore,M.J.
  TITLE     Purification and characterization of native spliceosomes suitable
            for three-dimensional structural analysis
  JOURNAL   RNA 8 (4), 426-439 (2002)
   PUBMED   11991638
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX647971.1, AK225161.1, BC012117.1, BI324922.1 and AC109465.3.
            
            On Aug 13, 2020 this sequence version replaced NM_001297645.1.
            
            Transcript Variant: This variant (3) lacks several 3' exons and has
            an alternate 3' terminal exon, compared to variant 1. The resulting
            isoform (3) is shorter and has a distinct C-terminus compared to
            variant 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225161.1, SRR14372080.2603253.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                BX647971.1         14-29
            17-186              AK225161.1         1-170
            187-1155            BC012117.1         152-1120
            1156-1727           AK225161.1         1140-1711
            1728-2067           BI324922.1         51-390              c
            2068-2119           AK225161.1         2052-2103
            2120-2122           AC109465.3         70138-70140
FEATURES             Location/Qualifiers
     source          1..2122
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.3"
     gene            1..2122
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /note="CWC27 spliceosome associated cyclophilin"
                     /db_xref="GeneID:10283"
                     /db_xref="HGNC:HGNC:10664"
                     /db_xref="MIM:617170"
     exon            1..259
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     CDS             218..1363
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /EC_number="5.2.1.8"
                     /note="isoform 3 is encoded by transcript variant 3;
                     serologically defined colon cancer antigen 10;
                     peptidyl-prolyl cis-trans isomerase SDCCAG10;
                     peptidyl-prolyl cis-trans isomerase CWC27 homolog; PPIase
                     SDCCAG10; antigen NY-CO-10; PPIase CWC27; probable
                     inactive peptidyl-prolyl cis-trans isomerase CWC27
                     homolog; spliceosome-associated protein CWC27 homolog;
                     CWC27 spliceosome associated protein homolog"
                     /codon_start=1
                     /product="spliceosome-associated protein CWC27 homolog
                     isoform 3"
                     /protein_id="NP_001284574.1"
                     /db_xref="CCDS:CCDS75252.1"
                     /db_xref="GeneID:10283"
                     /db_xref="HGNC:HGNC:10664"
                     /db_xref="MIM:617170"
                     /translation="MSNIYIQEPPTNGKVLLKTTAGDIDIELWSKEAPKACRNFIQLC
                     LEAYYDNTIFHRVVPGFIVQGGDPTGTGSGGESIYGAPFKDEFHSRLRFNRRGLVAMA
                     NAGSHDNGSQFFFTLGRADELNNKHTIFGKVTGDTVYNMLRLSEVDIDDDERPHNPHK
                     IKSCEVLFNPFDDIIPREIKRLKKEKPEEEVKKLKPKGTKNFSLLSFGEEAEEEEEEV
                     NRVSQSMKGKSKSSHDLLKDDPHLSSVPVVESEKGDAPDLVDDGEDESAEHDEYIDGD
                     EKNLMRERIAKKLKKDTSANVKSAGEGEVEKKSVSRSPPSLCLYLDYWIQLSRITQAY
                     TSWYYYGFLDSSLSCVSSASLLLTRHNVYFTLQTHSTDHLAACFFMK"
     exon            260..356
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            357..469
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            470..613
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            614..712
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            713..816
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            817..886
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            887..966
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            967..997
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1155
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..2122
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2099..2104
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /note="hexamer: AATAAA"
     polyA_site      2122
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /note="major polyA site"
ORIGIN      
        1 agcggtgctc gggtccggta acaacatggc ggcgtccgtg aggggctcct ttgggcaggg
       61 gtagtgtttg gtgtccctgt cttgcgtgat attgacaaac tgaagctttc ctgcaccact
      121 ggacttaagg aagagtgtac tcgtaggcgg acagctttag tggccggccg gccgctctca
      181 tcccccgtaa ggagcagagt cctttgtact gaccaagatg agcaacatct acatccagga
      241 gcctcccacg aatgggaagg ttttattgaa aactacagct ggagatattg acatagagtt
      301 gtggtccaaa gaagctccta aagcttgcag aaattttatc caactttgtt tggaagctta
      361 ttatgacaat accatttttc atagagttgt gcctggtttc atagtccaag gcggagatcc
      421 tactggcaca gggagtggtg gagagtctat ctatggagcg ccattcaaag atgaatttca
      481 ttcacggttg cgttttaatc ggagaggact ggttgccatg gcaaatgctg gttctcatga
      541 taatggcagc cagtttttct tcacactggg tcgagcagat gaacttaaca ataagcatac
      601 catctttgga aaggttacag gggatacagt atataacatg ttgcgactgt cagaagtaga
      661 cattgatgat gacgaaagac cacataatcc acacaaaata aaaagctgtg aggttttgtt
      721 taatcctttt gatgacatca ttccaaggga aattaaaagg ctgaaaaaag agaaaccaga
      781 ggaggaagta aagaaattga aacccaaagg cacaaaaaat tttagtttac tttcatttgg
      841 agaggaagct gaggaagaag aggaggaagt aaatcgagtt agtcagagca tgaagggcaa
      901 aagcaaaagt agtcatgact tgcttaagga tgatccacat ctcagttctg ttccagttgt
      961 agaaagtgaa aaaggtgatg caccagattt agttgatgat ggagaagatg aaagtgcaga
     1021 gcatgatgaa tatattgatg gtgatgaaaa gaacctgatg agagaaagaa ttgccaaaaa
     1081 attaaaaaag gacacaagtg cgaatgttaa atcagctgga gaaggagaag tggagaagaa
     1141 atcagtcagc cgcagcccac cttctctatg cctgtatctt gactactgga tacagctcag
     1201 cagaatcaca caggcatata caagctggta ttattatgga tttctagatt ccagcctcag
     1261 ctgtgtctcc agtgcttcct tattactcac tcgccacaat gtttacttca cacttcaaac
     1321 tcactcaacg gatcacctgg ctgcttgttt ttttatgaaa tgagagtaaa tttcttcaac
     1381 ccgtatttct ttctcttccc cgcttcgaga gtaaaaacta acaaaaccat tccattttat
     1441 ttcctgtccc tacctccttc ctatttattt ctaaatacat atcatctagc ttctcaccta
     1501 ccactccact gaaactactt ccactaaggc catctagttg ataatcgact ggctactttc
     1561 catttttttt tcttggtctt cctgctctgg agatttttgt ctcttttctc ttgagactaa
     1621 tctctctcaa gaaccttact atttaaagtg tgatctgtga agcagtagca ttagtatcac
     1681 ttgggaactt gttagaaata ccgagtctca ggccctgtcc tacacatttt taattagaat
     1741 ctgcattcta acaagatccc caggtgattt ttgtgtgcat tagtttgaga agcagtcctg
     1801 tagaatatta atttttatcc ctactgctcc tggatgagtt caagtttgta tcatgttagt
     1861 tccaaggtca gcaagttgtc agcaagttgg tactatattc cctgactcct tagtgcaaac
     1921 ctatgtgcac ccttttcaca ctcctgtaat attaggttac atatacattt tttcttcttt
     1981 gtgtatcctt atactgtaac tttcttgaag gtagtgatca tatccattta catttgtatc
     2041 tccatgttca aacagcgtag gtacccaaat atttttgtaa atacatgaac aaaaaatgaa
     2101 taaattcttc tttggcaaat ca
//
