LOCUS       NM_004079               3936 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.
ACCESSION   NM_004079
VERSION     NM_004079.5
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 3936)
  AUTHORS   Frorup,C., Jensen,M.H., Haupt-Jorgensen,M., Buschard,K.,
            Storling,J., Pociot,F. and Floyel,T.
  TITLE     Elevated Cathepsin S Serum Levels in New-Onset Type 1 Diabetes and
            Autoantibody-Positive Siblings
  JOURNAL   Diabetes 73 (8), 1278-1284 (2024)
   PUBMED   38701365
  REMARK    GeneRIF: Elevated Cathepsin S Serum Levels in New-Onset Type 1
            Diabetes and Autoantibody-Positive Siblings.
REFERENCE   2  (bases 1 to 3936)
  AUTHORS   Preya,U.H., Sayed,S., Nguyen,N.L. and Kim,J.T.
  TITLE     Potential role of CTSS in AMDImmune modulatory and anti-angiogenic
            effects of cathepsin S knockdown in ARPE-19 cells
  JOURNAL   Exp Eye Res 245, 109981 (2024)
   PUBMED   38914301
  REMARK    GeneRIF: Potential role of CTSS in AMDImmune modulatory and
            anti-angiogenic effects of cathepsin S knockdown in ARPE-19 cells.
REFERENCE   3  (bases 1 to 3936)
  AUTHORS   Zuo,T., Xie,Q., Liu,J., Yang,J., Shi,J., Kong,D., Wang,Y.,
            Zhang,Z., Gao,H., Zeng,D.B., Wang,X., Tao,P., Wei,W., Wang,J.,
            Li,Y., Long,Q., Li,C., Chang,L., Ning,H., Li,Y., Cui,C., Ge,X.,
            Wu,J., Li,G., Hong,X., Yang,X., Dai,E., He,F., Wu,J., Ruan,Y.,
            Lu,S. and Xu,P.
  TITLE     Macrophage-Derived Cathepsin S Remodels the Extracellular Matrix to
            Promote Liver Fibrogenesis
  JOURNAL   Gastroenterology 165 (3), 746-761 (2023)
   PUBMED   37263311
  REMARK    GeneRIF: Macrophage-Derived Cathepsin S Remodels the Extracellular
            Matrix to Promote Liver Fibrogenesis.
REFERENCE   4  (bases 1 to 3936)
  AUTHORS   Jiang,Y., Huang,Y., Ma,G., Liu,T., Li,Q., Wu,H. and Li,J.
  TITLE     Granulomatous rosacea in Chinese patients:
            Clinical-histopathological analysis and pathogenesis exploration
  JOURNAL   J Dermatol 50 (7), 856-868 (2023)
   PUBMED   37020415
  REMARK    GeneRIF: Granulomatous rosacea in Chinese patients:
            Clinical-histopathological analysis and pathogenesis exploration.
REFERENCE   5  (bases 1 to 3936)
  AUTHORS   Sayed,S., Faruq,O., Preya,U.H. and Kim,J.T.
  TITLE     Cathepsin S Knockdown Suppresses Endothelial Inflammation,
            Angiogenesis, and Complement Protein Activity under Hyperglycemic
            Conditions In Vitro by Inhibiting NF-kappaB Signaling
  JOURNAL   Int J Mol Sci 24 (6), 5428 (2023)
   PUBMED   36982499
  REMARK    GeneRIF: Cathepsin S Knockdown Suppresses Endothelial Inflammation,
            Angiogenesis, and Complement Protein Activity under Hyperglycemic
            Conditions In Vitro by Inhibiting NF-kappaB Signaling.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3936)
  AUTHORS   Munger,J.S., Haass,C., Lemere,C.A., Shi,G.P., Wong,W.S.,
            Teplow,D.B., Selkoe,D.J. and Chapman,H.A.
  TITLE     Lysosomal processing of amyloid precursor protein to A beta
            peptides: a distinct role for cathepsin S
  JOURNAL   Biochem J 311 (Pt 1) (Pt 1), 299-305 (1995)
   PUBMED   7575468
REFERENCE   7  (bases 1 to 3936)
  AUTHORS   Lemere,C.A., Munger,J.S., Shi,G.P., Natkin,L., Haass,C.,
            Chapman,H.A. and Selkoe,D.J.
  TITLE     The lysosomal cysteine protease, cathepsin S, is increased in
            Alzheimer's disease and Down syndrome brain. An immunocytochemical
            study
  JOURNAL   Am J Pathol 146 (4), 848-860 (1995)
   PUBMED   7717452
REFERENCE   8  (bases 1 to 3936)
  AUTHORS   Wiederanders,B., Bromme,D., Kirschke,H., von Figura,K., Schmidt,B.
            and Peters,C.
  TITLE     Phylogenetic conservation of cysteine proteinases. Cloning and
            expression of a cDNA coding for human cathepsin S
  JOURNAL   J Biol Chem 267 (19), 13708-13713 (1992)
   PUBMED   1377692
REFERENCE   9  (bases 1 to 3936)
  AUTHORS   Shi,G.P., Munger,J.S., Meara,J.P., Rich,D.H. and Chapman,H.A.
  TITLE     Molecular cloning and expression of human alveolar macrophage
            cathepsin S, an elastinolytic cysteine protease
  JOURNAL   J Biol Chem 267 (11), 7258-7262 (1992)
   PUBMED   1373132
REFERENCE   10 (bases 1 to 3936)
  AUTHORS   Ritonja,A., Colic,A., Dolenc,I., Ogrinc,T., Podobnik,M. and Turk,V.
  TITLE     The complete amino acid sequence of bovine cathepsin S and a
            partial sequence of bovine cathepsin L
  JOURNAL   FEBS Lett 283 (2), 329-331 (1991)
   PUBMED   2044774
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356292.21, M90696.1 and
            BC002642.2.
            
            On Nov 22, 2018 this sequence version replaced NM_004079.4.
            
            Summary: The preproprotein encoded by this gene, a member of the
            peptidase C1 family, is a lysosomal cysteine proteinase that
            participates in the degradation of antigenic proteins to peptides
            for presentation on MHC class II molecules. The mature protein
            cleaves the invariant chain of MHC class II molecules in
            endolysosomal compartments and enables the formation of antigen-MHC
            class II complexes and the proper display of extracellular
            antigenic peptides by MHC-II. The mature protein also functions as
            an elastase over a broad pH range. When secreted from cells, this
            protein can remodel components of the extracellular matrix such as
            elastin, collagen, and fibronectin. This gene is implicated in the
            pathology of many inflammatory and autoimmune diseases and, given
            its elastase activity, plays a significant role in some pulmonary
            diseases. Alternatively spliced transcript variants encoding
            distinct isoforms have been found for this gene. [provided by
            RefSeq, May 2020].
            
            Transcript Variant: This variant (1) encodes a longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK226095.1, DRR138524.102841.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in immune response or antiviral
                                      activity
            MANE Ensembl match     :: ENST00000368985.8/ ENSP00000357981.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                AL356292.21        118433-118490       c
            59-713              M90696.1           113-767
            714-1672            BC002642.2         694-1652
            1673-3936           AL356292.21        82900-85163         c
FEATURES             Location/Qualifiers
     source          1..3936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..3936
                     /gene="CTSS"
                     /note="cathepsin S"
                     /db_xref="GeneID:1520"
                     /db_xref="HGNC:HGNC:2545"
                     /db_xref="MIM:116845"
     exon            1..81
                     /gene="CTSS"
                     /inference="alignment:Splign:2.1.0"
     exon            82..208
                     /gene="CTSS"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..1078
                     /gene="CTSS"
                     /EC_number="3.4.22.27"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1"
                     /codon_start=1
                     /product="cathepsin S isoform 1 preproprotein"
                     /protein_id="NP_004070.3"
                     /db_xref="CCDS:CCDS968.1"
                     /db_xref="GeneID:1520"
                     /db_xref="HGNC:HGNC:2545"
                     /db_xref="MIM:116845"
                     /translation="MKRLVCVLLVCSSAVAQLHKDPTLDHHWHLWKKTYGKQYKEKNE
                     EAVRRLIWEKNLKFVMLHNLEHSMGMHSYDLGMNHLGDMTSEEVMSLMSSLRVPSQWQ
                     RNITYKSNPNRILPDSVDWREKGCVTEVKYQGSCGACWAFSAVGALEAQLKLKTGKLV
                     SLSAQNLVDCSTEKYGNKGCNGGFMTTAFQYIIDNKGIDSDASYPYKAMDQKCQYDSK
                     YRAATCSKYTELPYGREDVLKEAVANKGPVSVGVDARHPSFFLYRSGVYYEPSCTQNV
                     NHGVLVVGYGDLNGKEYWLVKNSWGHNFGEEGYIRMARNKGNHCGIASFPSYPEI"
     exon            209..331
                     /gene="CTSS"
                     /inference="alignment:Splign:2.1.0"
     exon            332..481
                     /gene="CTSS"
                     /inference="alignment:Splign:2.1.0"
     exon            482..709
                     /gene="CTSS"
                     /inference="alignment:Splign:2.1.0"
     exon            710..875
                     /gene="CTSS"
                     /inference="alignment:Splign:2.1.0"
     exon            876..978
                     /gene="CTSS"
                     /inference="alignment:Splign:2.1.0"
     exon            979..3936
                     /gene="CTSS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1719..1724
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSS"
                     /note="hexamer: AATAAA"
     polyA_site      1742
                     /gene="CTSS"
                     /note="major polyA site"
     regulatory      3080..3085
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSS"
                     /note="hexamer: AATAAA"
     polyA_site      3106
                     /gene="CTSS"
     regulatory      3829..3834
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSS"
                     /note="hexamer: TATAAA"
     polyA_site      3850
                     /gene="CTSS"
ORIGIN      
        1 ctccttgttg ctttgaaatc ttagaagaga gcccactaat tcaaggactc ttactgtggg
       61 agcaactgct ggttctatca caatgaaacg gctggtttgt gtgctcttgg tgtgctcctc
      121 tgcagtggca cagttgcata aagatcctac cctggatcac cactggcatc tctggaagaa
      181 aacctatggc aaacaataca aggaaaagaa tgaagaagca gtacgacgtc tcatctggga
      241 aaagaatcta aagtttgtga tgcttcacaa cctggagcat tcaatgggaa tgcactcata
      301 cgatctgggc atgaaccacc tgggagacat gaccagtgaa gaagtgatgt ctttgatgag
      361 ttccctgaga gttcccagcc agtggcagag aaatatcaca tataagtcaa accctaatcg
      421 gatattgcct gattctgtgg actggagaga gaaagggtgt gttactgaag tgaaatatca
      481 aggttcttgt ggtgcttgct gggctttcag tgctgtgggg gccctggaag cacagctgaa
      541 gctgaaaaca ggaaagctgg tgtctctcag tgcccagaac ctggtggatt gctcaactga
      601 aaaatatgga aacaaaggct gcaatggtgg cttcatgaca acggctttcc agtacatcat
      661 tgataacaag ggcatcgact cagacgcttc ctatccctac aaagccatgg atcagaaatg
      721 tcaatatgac tcaaaatatc gtgctgccac atgttcaaag tacactgaac ttccttatgg
      781 cagagaagat gtcctgaaag aagctgtggc caataaaggc ccagtgtctg ttggtgtaga
      841 tgcgcgtcat ccttctttct tcctctacag aagtggtgtc tactatgaac catcctgtac
      901 tcagaatgtg aatcatggtg tacttgtggt tggctatggt gatcttaatg ggaaagaata
      961 ctggcttgtg aaaaacagct ggggccacaa ctttggtgaa gaaggatata ttcggatggc
     1021 aagaaataaa ggaaatcatt gtgggattgc tagctttccc tcttacccag aaatctagag
     1081 gatctctcct ttttataaca aatcaagaaa tatgaagcac tttctcttaa cttaattttt
     1141 cctgctgtat ccagaagaaa taattgtgtc atgattaatg tgtatttact gtactaatta
     1201 gaaaatatag tttgaggccg ggcacggtgg ctcacgcctg taatcccagt acttgggagg
     1261 ccaaggcagg catatcaact tgaggccagg agttaaagag cagcctggct aacatggtga
     1321 aaccccatct ctactaaaaa tacaaaaaat tagccgagca cggtggtgca tgcctgtaat
     1381 cccagctact tgggaggctg aggcacgaga ttccttgaac ccaagaggtt gaggctatgt
     1441 tgagctgaga tcacaccact gtactccagc ctggatgaca gagtggagac tctgtttcaa
     1501 aaaaacagaa aagaaaatat agtttgattc ttcatttttt taaatttgca aatctcagga
     1561 taaagtttgc taagtaaatt agtaatgtac tatagatata actgtacaaa aattgttcaa
     1621 cctaaaacaa tctgtaattg cttattgttt tattgtatac tctttgtctt tttaagaccc
     1681 ctaatagcct tttgtaactt gatggcttaa aaatacttaa taaatctgcc atttcaaatt
     1741 tctatcattg ccacatacca ttcttattcc taggcaacta ttaataatct atcctgagaa
     1801 tattaattgt ggtattctgg tgatggggtt tagcaacttt gatggaagaa aatattaggc
     1861 tataaatgtc ctaaggactc agattgtatc tttgtacaga agaggattca aaacgccacg
     1921 tgtagtggct catgcctgta atcccaacac tttgggaggc tgaagtagga ggatcgtctt
     1981 gagcccagga gttcaagacc agcctggaca acatagtgag accttgtctc cacaaaaata
     2041 aaaaagaaac tatccaggag tggtggtgtg tgcctgtggt ccctgctatg cagatgtcta
     2101 agacaggagg atcacaagag cccaggaggt tgagaatgca gtgagcttgt aattgcacca
     2161 ctgcactcca gcctgggtga cagagcaaga ccctgtctta aaaaaagagg attcaacaca
     2221 tatttttata ttatgttaaa gtaaagaaat gcataaaaga caagcacttt ggaagaatta
     2281 ttttaatgat caacaattta atgtattagt ccaaattatt tttacgtagt catcaacaat
     2341 ttgaccaggg cctttatttg gcaaataact gagccaacca gaataaaata accaatactc
     2401 cactgctcat atttttatct aattcagatg gatcttcctt acaactgctc tagattagta
     2461 gatgcatcta agcaggcagc aggaacttta aattttttaa gttcatgtct atgacatgaa
     2521 caatgtgtgg gataatgtca ttaatatatc ctaaattaac ctaaacgtat ttcactaact
     2581 ctggctcctt ctccataaag cacattttaa ggaacaagaa ttgctaaata taaaaacata
     2641 aataatacca taatacatgg ctatcatcaa aagtgtatag aatattatag tttaaaagta
     2701 tttagttgat tacttttcag ttttgttttg ttttttgaga cggagtctca ctctgttgcc
     2761 caggctggag tgcagtggca ccatctcagt tcactgcaac ttctgcctcc cgagttcaag
     2821 cgattctcct gcctcagcct cccgagtagc tggaattata ggcgtgcacc accacgccca
     2881 gctaattttt gtatttttag taaagacagg gttttgccac attagccagg ctggtctcaa
     2941 actcctgacc tcaggtgatc cacccacccc agcctcccaa agtgctaaga ttacaggcgt
     3001 gagccactga gcccagccta cttttcagtt tttaacataa tttttgtttt atccacaact
     3061 tttcaagtat tgaaagtaga ataaaaacat gggttcttag tctttagcta tctgttaaag
     3121 cctatgaatg ccttcttaaa atcatgtttt taaatgcata aaatatatag gattacaaag
     3181 gaatctaatt atatcgaaat acagttatta aaatgttaaa agataagttt gttatatatt
     3241 aatatgcatg cttctttata aatgcattaa ataagagtta atagctatcc taaatttgaa
     3301 atagtgataa gcataatgaa aatagatgca aaaaactaat gtgatatgaa aatatctggg
     3361 tttttctttt gatgatgaag tattgctaat attaccgtgg tttatgaact atgttcagaa
     3421 ttgaagaaaa tcctaacttt cagttagagg ttagtgacgg ggttcaggac accctacaca
     3481 aaatacagca ctttgacata ttgaatattt taagctgaag gcatttgagg aaattgcaga
     3541 agcaggaagg tgactctgac cttctgcctg ctgttctccc cagaagcagc cataaaacct
     3601 gggaaggatt ttctgacctt cccctgaagt agatcataag actgtcatgt aagaggtgct
     3661 ctcctggcac ccagagaaaa ggagcatcct tacctccaaa agcacaggga cacaaagagg
     3721 aatctaaaca aacaggcctc tcagtttccc ccagtttatt acatttagct tgttcacact
     3781 ttgccctatg acatttctac atcactggct gctcttcatc aaacctacta taaaaaacat
     3841 tcaagttcaa ctgtttcttt gggcctttat ttccttatgg agcccctcgt gtcgtgtaaa
     3901 acttatatta aataaatgtg catgcttttc tcttgc
//
