LOCUS       NM_000396               1629 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens cathepsin K (CTSK), mRNA.
ACCESSION   NM_000396
VERSION     NM_000396.4
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 1629)
  AUTHORS   Jin,X., Yue,X., Huang,Z., Meng,X., Xu,S., Wu,Y., Wan,Y., Inoue,A.,
            Narisawa,M., Hu,L., Shi,G.P., Umegaki,H., Murohara,T., Lei,Y.,
            Kuzuya,M. and Cheng,X.W.
  TITLE     Cathepsin K deficiency prevented stress-related thrombosis in a
            mouse FeCl3 model
  JOURNAL   Cell Mol Life Sci 81 (1), 205 (2024)
   PUBMED   38703204
  REMARK    GeneRIF: Cathepsin K deficiency prevented stress-related thrombosis
            in a mouse FeCl3 model.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1629)
  AUTHORS   Calio,A., Marletta,S., Settanni,G., Rizzo,M., Gobbo,S., Pedron,S.,
            Stefanizzi,L., Munari,E., Brunelli,M., Marcolini,L., Pesci,A.,
            Fratoni,S., Pierconti,F., Raspollini,M.R., Marchetti,A.,
            Doglioni,C., Amin,M.B., Porta,C. and Martignoni,G.
  TITLE     mTOR eosinophilic renal cell carcinoma: a distinctive tumor
            characterized by mTOR mutation, loss of chromosome 1, cathepsin-K
            expression, and response to target therapy
  JOURNAL   Virchows Arch 483 (6), 821-833 (2023)
   PUBMED   37938323
  REMARK    GeneRIF: mTOR eosinophilic renal cell carcinoma: a distinctive
            tumor characterized by mTOR mutation, loss of chromosome 1,
            cathepsin-K expression, and response to target therapy.
REFERENCE   3  (bases 1 to 1629)
  AUTHORS   Fabrik,I., Bilkei-Gorzo,O., Oberg,M., Fabrikova,D., Fuchs,J.,
            Sihlbom,C., Goransson,M. and Hartlova,A.
  TITLE     Lung macrophages utilize unique cathepsin K-dependent phagosomal
            machinery to degrade intracellular collagen
  JOURNAL   Life Sci Alliance 6 (4), e202201535 (2023)
   PUBMED   36697252
  REMARK    GeneRIF: Lung macrophages utilize unique cathepsin K-dependent
            phagosomal machinery to degrade intracellular collagen.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1629)
  AUTHORS   Wu,N., Wang,Y., Wang,K., Zhong,B., Liao,Y., Liang,J. and Jiang,N.
  TITLE     Cathepsin K regulates the tumor growth and metastasis by
            IL-17/CTSK/EMT axis and mediates M2 macrophage polarization in
            castration-resistant prostate cancer
  JOURNAL   Cell Death Dis 13 (9), 813 (2022)
   PUBMED   36138018
  REMARK    GeneRIF: Cathepsin K regulates the tumor growth and metastasis by
            IL-17/CTSK/EMT axis and mediates M2 macrophage polarization in
            castration-resistant prostate cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1629)
  AUTHORS   Markova,T.V., Kenis,V., Melchenko,E., Guseva,D., Osipova,D.,
            Galeeva,N., Nagornova,T. and Dadali,E.L.
  TITLE     Clinical and genetic characterization of three Russian patients
            with pycnodysostosis due to pathogenic variants in the CTSK gene
  JOURNAL   Mol Genet Genomic Med 10 (5), e1904 (2022)
   PUBMED   35315254
  REMARK    GeneRIF: Clinical and genetic characterization of three Russian
            patients with pycnodysostosis due to pathogenic variants in the
            CTSK gene.
REFERENCE   6  (bases 1 to 1629)
  AUTHORS   Del Nery,E., Chagas,J.R., Juliano,M.A., Prado,E.S. and Juliano,L.
  TITLE     Evaluation of the extent of the binding site in human tissue
            kallikrein by synthetic substrates with sequences of human
            kininogen fragments
  JOURNAL   Biochem J 312 (Pt 1) (Pt 1), 233-238 (1995)
   PUBMED   7492318
REFERENCE   7  (bases 1 to 1629)
  AUTHORS   Bromme,D. and Okamoto,K.
  TITLE     Human cathepsin O2, a novel cysteine protease highly expressed in
            osteoclastomas and ovary molecular cloning, sequencing and tissue
            distribution
  JOURNAL   Biol Chem Hoppe Seyler 376 (6), 379-384 (1995)
   PUBMED   7576232
REFERENCE   8  (bases 1 to 1629)
  AUTHORS   Inaoka,T., Bilbe,G., Ishibashi,O., Tezuka,K., Kumegawa,M. and
            Kokubo,T.
  TITLE     Molecular cloning of human cDNA for cathepsin K: novel cysteine
            proteinase predominantly expressed in bone
  JOURNAL   Biochem Biophys Res Commun 206 (1), 89-96 (1995)
   PUBMED   7818555
REFERENCE   9  (bases 1 to 1629)
  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   10 (bases 1 to 1629)
  AUTHORS   LeBlanc,S. and Savarirayan,R.
  TITLE     Pycnodysostosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   33151655
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355860.12 and AL356292.21.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000396.3.
            
            Summary: The protein encoded by this gene is a lysosomal cysteine
            proteinase involved in bone remodeling and resorption. This
            protein, which is a member of the peptidase C1 protein family, is
            predominantly expressed in osteoclasts. However, the encoded
            protein is also expressed in a significant fraction of human breast
            cancers, where it could contribute to tumor invasiveness. Mutations
            in this gene are the cause of pycnodysostosis, an autosomal
            recessive disease characterized by osteosclerosis and short
            stature. [provided by RefSeq, Apr 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.207696.1,
                                           SRR5189655.162406.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000271651.8/ ENSP00000271651.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                AL355860.12        8858-8904           c
            48-168              AL355860.12        7330-7450           c
            169-291             AL355860.12        6746-6868           c
            292-447             AL355860.12        6505-6660           c
            448-666             AL355860.12        4665-4883           c
            667-832             AL356292.21        152256-152421       c
            833-938             AL356292.21        151880-151985       c
            939-1629            AL356292.21        148920-149610       c
FEATURES             Location/Qualifiers
     source          1..1629
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..1629
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /note="cathepsin K"
                     /db_xref="GeneID:1513"
                     /db_xref="HGNC:HGNC:2536"
                     /db_xref="MIM:601105"
     exon            1..47
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /inference="alignment:Splign:2.1.0"
     exon            48..168
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..1038
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /EC_number="3.4.22.38"
                     /note="cathepsin X; cathepsin O1; cathepsin O2"
                     /codon_start=1
                     /product="cathepsin K preproprotein"
                     /protein_id="NP_000387.1"
                     /db_xref="CCDS:CCDS969.1"
                     /db_xref="GeneID:1513"
                     /db_xref="HGNC:HGNC:2536"
                     /db_xref="MIM:601105"
                     /translation="MWGLKVLLLPVVSFALYPEEILDTHWELWKKTHRKQYNNKVDEI
                     SRRLIWEKNLKYISIHNLEASLGVHTYELAMNHLGDMTSEEVVQKMTGLKVPLSHSRS
                     NDTLYIPEWEGRAPDSVDYRKKGYVTPVKNQGQCGSCWAFSSVGALEGQLKKKTGKLL
                     NLSPQNLVDCVSENDGCGGGYMTNAFQYVQKNRGIDSEDAYPYVGQEESCMYNPTGKA
                     AKCRGYREIPEGNEKALKRAVARVGPVSVAIDASLTSFQFYSKGVYYDESCNSDNLNH
                     AVLAVGYGIQKGNKHWIIKNSWGENWGNKGYILMARNKNNACGIANLASFPKM"
     exon            169..291
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /inference="alignment:Splign:2.1.0"
     exon            292..447
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /inference="alignment:Splign:2.1.0"
     exon            448..666
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /inference="alignment:Splign:2.1.0"
     exon            667..832
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /inference="alignment:Splign:2.1.0"
     exon            833..938
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1629
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1574..1579
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /note="hexamer: AATAAA"
     regulatory      1604..1609
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /note="hexamer: AATAAA"
     polyA_site      1605
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /note="major polyA site"
     polyA_site      1629
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
ORIGIN      
        1 acactttgct gccgaaacga agccagacaa cagatttcca tcagcaggat gtgggggctc
       61 aaggttctgc tgctacctgt ggtgagcttt gctctgtacc ctgaggagat actggacacc
      121 cactgggagc tatggaagaa gacccacagg aagcaatata acaacaaggt ggatgaaatc
      181 tctcggcgtt taatttggga aaaaaacctg aagtatattt ccatccataa ccttgaggct
      241 tctcttggtg tccatacata tgaactggct atgaaccacc tgggggacat gaccagtgaa
      301 gaggtggttc agaagatgac tggactcaaa gtacccctgt ctcattcccg cagtaatgac
      361 accctttata tcccagaatg ggaaggtaga gccccagact ctgtcgacta tcgaaagaaa
      421 ggatatgtta ctcctgtcaa aaatcagggt cagtgtggtt cctgttgggc ttttagctct
      481 gtgggtgccc tggagggcca actcaagaag aaaactggca aactcttaaa tctgagtccc
      541 cagaacctag tggattgtgt gtctgagaat gatggctgtg gagggggcta catgaccaat
      601 gccttccaat atgtgcagaa gaaccggggt attgactctg aagatgccta cccatatgtg
      661 ggacaggaag agagttgtat gtacaaccca acaggcaagg cagctaaatg cagagggtac
      721 agagagatcc ccgaggggaa tgagaaagcc ctgaagaggg cagtggcccg agtgggacct
      781 gtctctgtgg ccattgatgc aagcctgacc tccttccagt tttacagcaa aggtgtgtat
      841 tatgatgaaa gctgcaatag cgataatctg aaccatgcag ttttggcagt gggatatgga
      901 atccagaagg gaaacaagca ctggataatt aaaaacagct ggggagaaaa ctggggaaac
      961 aaaggatata tcctcatggc tcgaaataag aacaacgcct gtggcattgc caacctggcc
     1021 agcttcccca agatgtgact ccagccagcc aaatccatcc tgctcttcca tttcttccac
     1081 gatggtgcag tgtaacgatg cactttggaa gggagttggt gtgctatttt tgaagcagat
     1141 gtggtgatac tgagattgtc tgttcagttt ccccatttgt ttgtgcttca aatgatcctt
     1201 cctactttgc ttctctccac ccatgacctt tttcactgtg gccatcagga ctttccctga
     1261 cagctgtgta ctcttaggct aagagatgtg actacagcct gcccctgact gtgttgtccc
     1321 agggctgatg ctgtacaggt acaggctgga gattttcaca taggttagat tctcattcac
     1381 gggactagtt agctttaagc accctagagg actagggtaa tctgacttct cacttcctaa
     1441 gttcccttct atatcctcaa ggtagaaatg tctatgtttt ctactccaat tcataaatct
     1501 attcataagt ctttggtaca agtttacatg ataaaaagaa atgtgatttg tcttcccttc
     1561 tttgcacttt tgaaataaag tatttatctc ctgtctacag tttaataaat agcatctagt
     1621 acacattca
//
