LOCUS       NM_001334               2903 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens cathepsin O (CTSO), mRNA.
ACCESSION   NM_001334
VERSION     NM_001334.3
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 2903)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2903)
  AUTHORS   Cairns,J., Ingle,J.N., Wickerham,L.D., Weinshilboum,R., Liu,M. and
            Wang,L.
  TITLE     SNPs near the cysteine proteinase cathepsin O gene (CTSO) determine
            tamoxifen sensitivity in ERalpha-positive breast cancer through
            regulation of BRCA1
  JOURNAL   PLoS Genet 13 (10), e1007031 (2017)
   PUBMED   28968398
  REMARK    GeneRIF: We report that CTSO reduces the protein levels of BRCA1
            and ZNF423 through cysteine proteinase-mediated degradation. We
            also have identified a series of transcription factors of BRCA1
            that are regulated by CTSO at the protein level.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2903)
  AUTHORS   Hato,Y., Kondo,N., Yoshimoto,N., Endo,Y., Asano,T., Dong,Y.,
            Nishimoto,M., Takahashi,S., Fujii,Y., Nakanishi,R. and Toyama,T.
  TITLE     Prognostic impact of a single-nucleotide polymorphism near the CTSO
            gene in hormone receptor-positive breast cancer patients
  JOURNAL   Int J Clin Oncol 21 (3), 539-547 (2016)
   PUBMED   26482374
  REMARK    GeneRIF: a single-nucleotide polymorphism near the CTSO gene is a
            poor prognostic factor in breast cancer although further research
            might help to reveal the factors linking this genotype and
            prognosis.
REFERENCE   4  (bases 1 to 2903)
  AUTHORS   Reif,M.M., Mach,L. and Oostenbrink,C.
  TITLE     Molecular insight into propeptide-protein interactions in
            cathepsins L and O
  JOURNAL   Biochemistry 51 (43), 8636-8653 (2012)
   PUBMED   23009386
  REMARK    GeneRIF: In this study, various molecular dynamics (MD) simulations
            of pro- and mature human cathepsins L and O were performed.
REFERENCE   5  (bases 1 to 2903)
  AUTHORS   Roeske,D., Ludwig,K.U., Neuhoff,N., Becker,J., Bartling,J.,
            Bruder,J., Brockschmidt,F.F., Warnke,A., Remschmidt,H.,
            Hoffmann,P., Muller-Myhsok,B., Nothen,M.M. and Schulte-Korne,G.
  TITLE     First genome-wide association scan on neurophysiological
            endophenotypes points to trans-regulation effects on SLC2A3 in
            dyslexic children
  JOURNAL   Mol Psychiatry 16 (1), 97-107 (2011)
   PUBMED   19786962
REFERENCE   6  (bases 1 to 2903)
  AUTHORS   Santamaria,I., Pendas,A.M., Velasco,G. and Lopez-Otin,C.
  TITLE     Genomic structure and chromosomal localization of the human
            cathepsin O gene (CTSO)
  JOURNAL   Genomics 53 (2), 231-234 (1998)
   PUBMED   9790772
REFERENCE   7  (bases 1 to 2903)
  AUTHORS   Shi,G.P., Chapman,H.A., Bhairi,S.M., DeLeeuw,C., Reddy,V.Y. and
            Weiss,S.J.
  TITLE     Molecular cloning of human cathepsin O, a novel endoproteinase and
            homologue of rabbit OC2
  JOURNAL   FEBS Lett 357 (2), 129-134 (1995)
   PUBMED   7805878
REFERENCE   8  (bases 1 to 2903)
  AUTHORS   Velasco,G., Ferrando,A.A., Puente,X.S., Sanchez,L.M. and
            Lopez-Otin,C.
  TITLE     Human cathepsin O. Molecular cloning from a breast carcinoma,
            production of the active enzyme in Escherichia coli, and expression
            analysis in human tissues
  JOURNAL   J Biol Chem 269 (43), 27136-27142 (1994)
   PUBMED   7929457
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X77383.1, BC049206.1,
            BG617165.1 and BQ006443.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001334.2.
            
            Summary: The protein encoded by the gene is a cysteine proteinase
            and a member of the papain superfamily. This proteolytic enzyme is
            involved in cellular protein degradation and turnover. The
            recombinant form of this enzyme was shown to degrade synthetic
            peptides typically used as substrates for cysteine proteinases and
            its proteolytic activity was abolished by an inhibitor of cyteine
            proteinase. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.171374.1,
                                           SRR1660805.122874.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000433477.4/ ENSP00000414904.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1609              X77383.1           31-1639
            1610-1820           BC049206.1         1593-1803
            1821-2362           BG617165.1         45-586
            2363-2886           BC049206.1         2345-2868
            2887-2903           BQ006443.1         11-27               c
FEATURES             Location/Qualifiers
     source          1..2903
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     gene            1..2903
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /note="cathepsin O"
                     /db_xref="GeneID:1519"
                     /db_xref="HGNC:HGNC:2542"
                     /db_xref="MIM:600550"
     exon            1..154
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..985
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /EC_number="3.4.22.42"
                     /codon_start=1
                     /product="cathepsin O preproprotein"
                     /protein_id="NP_001325.1"
                     /db_xref="CCDS:CCDS3794.1"
                     /db_xref="GeneID:1519"
                     /db_xref="HGNC:HGNC:2542"
                     /db_xref="MIM:600550"
                     /translation="MDVRALPWLPWLLWLLCRGGGDADSRAPFTPTWPRSREREAAAF
                     RESLNRHRYLNSLFPSENSTAFYGINQFSYLFPEEFKAIYLRSKPSKFPRYSAEVHMS
                     IPNVSLPLRFDWRDKQVVTQVRNQQMCGGCWAFSVVGAVESAYAIKGKPLEDLSVQQV
                     IDCSYNNYGCNGGSTLNALNWLNKMQVKLVKDSEYPFKAQNGLCHYFSGSHSGFSIKG
                     YSAYDFSDQEDEMAKALLTFGPLVVIVDAVSWQDYLGGIIQHHCSSGEANHAVLITGF
                     DKTGSTPYWIVRNSWGSSWGVDGYAHVKMGSNVCGIADSVSSIFV"
     exon            155..263
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /inference="alignment:Splign:2.1.0"
     exon            264..403
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /inference="alignment:Splign:2.1.0"
     exon            404..571
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /inference="alignment:Splign:2.1.0"
     exon            572..693
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /inference="alignment:Splign:2.1.0"
     exon            694..857
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /inference="alignment:Splign:2.1.0"
     exon            858..950
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /inference="alignment:Splign:2.1.0"
     exon            951..2903
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2866..2871
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /note="hexamer: AATAAA"
     polyA_site      2903
                     /gene="CTSO"
                     /gene_synonym="CTSO1"
                     /note="major polyA site"
ORIGIN      
        1 agaggagccg ggcgccgcaa tggacgtgcg ggcgctgccg tggctgccgt ggctgctgtg
       61 gctgctgtgc cggggcggcg gcgatgcgga ctcccgcgcc cccttcaccc cgacctggcc
      121 gcggagccgc gagcgtgaag ccgccgcctt ccgggaaagt cttaatagac atcgatactt
      181 gaattcttta tttcccagtg aaaactccac cgccttctat ggaataaatc agttttccta
      241 tttgtttcct gaagagttta aagccattta tttaagaagc aaaccttcca agtttcccag
      301 atactcagca gaagtacata tgtccatccc caatgtgtct ttgccgttaa gatttgactg
      361 gagggacaag caggttgtga cacaagtgag aaaccagcag atgtgtggag gatgctgggc
      421 cttcagcgtg gtgggggcag tggaatctgc ttatgcaata aaggggaagc ccctggaaga
      481 cctaagtgtc cagcaggtca ttgactgttc gtataataat tatggctgca atggaggctc
      541 tactctcaat gctttgaact ggttaaacaa gatgcaagta aaactggtga aagattcaga
      601 atatcctttt aaagcacaaa atggtctgtg ccattacttt tctggttcac attctggatt
      661 ttcaatcaaa ggttattctg catatgactt cagtgaccaa gaagatgaaa tggcaaaagc
      721 acttcttacc tttggccctt tggtagtcat agtagatgca gtgagctggc aagattatct
      781 gggaggcatt atacagcatc actgctctag tggagaagca aatcatgcag ttctcataac
      841 tgggtttgat aaaacaggaa gcactccata ttggattgtg cggaattcct ggggaagttc
      901 ttggggagta gatggttatg cccatgtcaa aatgggaagt aatgtttgtg gtattgcaga
      961 ttccgtttct tctatatttg tgtgacatgt tgggcagatc aagagacagc tacaaaaatg
     1021 aaggttttca taatgcaatg taacatagta cttcaaagta ttattcaact tcaagtttca
     1081 gcaactacct acaaaagatt ctaaggccta gtagtattta aactaagttt cagaatgttc
     1141 ccttcttgta gagagatgga caaccaaagt cagtgggaca aactccagca cagaagcctg
     1201 cgaggaagcc tatggaatag tttcctgtcc tgagacgaaa ttcagattag gagatatttt
     1261 aggcccctgc aactggggaa ggctactgtt tgtttttgtt tgcttattat ttatttgttt
     1321 gtttattgtg agatatttca ggtgggatca aagaggtcat aagaatttat tttcttttgt
     1381 ggggtgtaac tactagcttt agattacccc tatacacaag aatggccaac ctaaaattat
     1441 gtgtgtcttg tacagttagt tatattagca gccctctgag atggcgtatc tatcggaagg
     1501 atttcaaaca ccaattgctt tacctgaaca aatggtgctt accctttgaa cagcagagtg
     1561 accacgtaga aggaaggaaa agggcaaaat cgcttcagtt aaactgaaat taaatgaaca
     1621 ataaggcaac tatataagta acttctagta gcattgcctg agagacaaat tattgtttga
     1681 taattttcat tgtgaatagg aatccaatag atcatattgc ttactttgtt ctttttatac
     1741 tatagaataa tattttgttc tctagtatat caaaatacca aaatattatc tcatattttc
     1801 tccctctttc tcttactctt taccaagttt tcctggtggc ttggcttccc tgactaaaga
     1861 attaagtctc atttttactt tccatttcta ttttcttacc acttggttgg ctccctttgt
     1921 ctctgtacct ttaccaacat taggatctca cctctttctt cctcccttaa ttcataagca
     1981 ccactcctat caaagtccca tctcttaacc ctgggtatca aacaaactgt gagttttcca
     2041 gaatctgttt cccagttttc ccctcagctt tcctggtctc ccatccgaac tgcttctttg
     2101 tgcacctctt gttctttctc ttggctccca gtcttgattc ctgtgatcac tcttgcatca
     2161 ctaattgcac aagtgatttc aggtgcaatt ctgattagcc tgcgtccaca cagtgatcga
     2221 tgatcctatg tgcctagaaa ggacactgtg tgctgctcat gacctgcaac aggaaaaaag
     2281 ccatttcttg ttagcagtgt aagaacctta gagcaaagga gttgaccttc tgattgaata
     2341 taagcacaac catattaaat gaatcaatac aagaaaatta tttctgatac tatgtatgta
     2401 catatttctt ctctaaaatg tatcattctt ttctaatgta tatgatctaa caaaaatgaa
     2461 acatgaaatg cagtagcaac cactaaaaaa aaaaattcaa ggacatctaa ctttttctct
     2521 cacttttgcc ctttgtttat ccttccctgt gattagataa acaaaataaa aaacaaaatg
     2581 ctgtatttct cttcttacgc cagtcagaac caatccgaaa agaatgtgtg ttgactcagg
     2641 tttggagtta tttcaggaag acagatattg accttttaat tgataaatat tcttattatc
     2701 ctggaatgcc agaaaagaac tatgtcctgc ttgtctagtt tgtattcgct gactttctat
     2761 gtgatataga tgcatttgta atactctttt tcaagtgcta aaggatttct aaaatttcaa
     2821 actgattaat atgtttctgc tgttctggat tttgatgaca tttacaataa aacaacctac
     2881 atttgacttt ggtttaaaaa gaa
//
