LOCUS       NM_005869               2065 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens CWC27 spliceosome associated cyclophilin (CWC27),
            transcript variant 1, mRNA.
ACCESSION   NM_005869
VERSION     NM_005869.4
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 2065)
  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 2065)
  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 2065)
  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 2065)
  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 2065)
  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 2065)
  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 2065)
  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 2065)
  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 2065)
  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 2065)
  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, BC012117.1, AK225105.1 and BG193598.1.
            
            On Nov 23, 2018 this sequence version replaced NM_005869.3.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.259211.1,
                                           SRR1660807.139360.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381070.8/ ENSP00000370460.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1074              BX647971.1         14-1087
            1075-1369           BC012117.1         1040-1334
            1370-1896           AK225105.1         1349-1875
            1897-2065           BG193598.1         414-582
FEATURES             Location/Qualifiers
     source          1..2065
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.3"
     gene            1..2065
                     /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..1636
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /EC_number="5.2.1.8"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_005860.2"
                     /db_xref="CCDS:CCDS3982.2"
                     /db_xref="GeneID:10283"
                     /db_xref="HGNC:HGNC:10664"
                     /db_xref="MIM:617170"
                     /translation="MSNIYIQEPPTNGKVLLKTTAGDIDIELWSKEAPKACRNFIQLC
                     LEAYYDNTIFHRVVPGFIVQGGDPTGTGSGGESIYGAPFKDEFHSRLRFNRRGLVAMA
                     NAGSHDNGSQFFFTLGRADELNNKHTIFGKVTGDTVYNMLRLSEVDIDDDERPHNPHK
                     IKSCEVLFNPFDDIIPREIKRLKKEKPEEEVKKLKPKGTKNFSLLSFGEEAEEEEEEV
                     NRVSQSMKGKSKSSHDLLKDDPHLSSVPVVESEKGDAPDLVDDGEDESAEHDEYIDGD
                     EKNLMRERIAKKLKKDTSANVKSAGEGEVEKKSVSRSEELRKEARQLKRELLAAKQKK
                     VENAAKQAEKRSEEEEAPPDGAVAEYRREKQKYEALRKQQSKKGTSREDQTLALLNQF
                     KSKLTQAIAETPENDIPETEVEDDEGWMSHVLQFEDKSRKVKDASMQDSDTFEIYDPR
                     NPVNKRRREESKKLMREKKERR"
     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..1259
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1369
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            1370..1473
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..2065
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1871..1876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /note="hexamer: AATAAA"
     polyA_site      1904
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /note="major polyA site"
     regulatory      2041..2046
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
                     /note="hexamer: AATAAA"
     polyA_site      2065
                     /gene="CWC27"
                     /gene_synonym="NY-CO-10; RPSKA; SDCCAG-10; SDCCAG10"
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 cgcagtgaag agctcagaaa agaagcaaga caattaaaac gggaactctt
     1201 agcagcaaaa caaaaaaaag tagaaaatgc agcaaaacaa gcagaaaaaa gaagtgaaga
     1261 ggaagaagcc cctccagatg gtgctgttgc cgaatacaga agagaaaagc aaaagtatga
     1321 agctttgagg aagcaacagt caaagaaggg aacttcccgg gaagatcaga cccttgcact
     1381 gctgaaccag tttaaatcta aactcactca agcaattgct gaaacgcctg aaaatgacat
     1441 tcctgaaaca gaagtagaag atgatgaagg atggatgtca catgtacttc agtttgagga
     1501 taaaagcaga aaagtgaaag atgcaagcat gcaagactca gatacatttg aaatctatga
     1561 tcctcggaat ccagtgaata aaagaaggag ggaagaaagc aaaaagctga tgagagagaa
     1621 aaaagaaaga agataaaatg agaataatga taaccagaac ttgctggaaa tgtgcctaca
     1681 atggccttgt aacagccatt gttcccaaca gcatcactta ggggtgtgaa aagaagtatt
     1741 tttgaacctg ttgtctggtt ttgaaaaaca attatcttgt tttgcaaatt gtggaatgat
     1801 gtaagcaaat gcttttggtt actggtacat gtgttttttc ctagctgacc ttttatattg
     1861 ctaaatctga aataaaataa ctttccttcc acattacatg ttaaccattg cagactgcaa
     1921 gcctgtttgt gtccttttac cctaaaatat atgaaggctt ccttttcaag atttttttat
     1981 aagaagttcc tacagaaaga atatttgtgg gaaacctccc tttcactaac ttcagaatat
     2041 aataaaatat tataaataaa atata
//
