LOCUS       NM_001814               1870 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.
ACCESSION   NM_001814
VERSION     NM_001814.6
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 1870)
  AUTHORS   Zhou,S.C., Lai,J., Fan,K., Li,J.W., Xu,X.Y., Yao,C.Y., Long,B.J.,
            Zhao,C.L., Che,N., Gao,Y.Y. and Yu,S.Q.
  TITLE     [Single-cell transcriptomic sequencing coupled with Mendelian
            randomization analysis elucidates the pivotal role of CTSC in
            chronic rhinosinusitis]
  JOURNAL   Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 59 (6), 551-559
            (2024)
   PUBMED   38965845
  REMARK    GeneRIF: [Single-cell transcriptomic sequencing coupled with
            Mendelian randomization analysis elucidates the pivotal role of
            CTSC in chronic rhinosinusitis].
REFERENCE   2  (bases 1 to 1870)
  AUTHORS   Abdel-Hamid,M.S., Abouzaid,M.R., Mostafa,M.I. and Ahmed,N.E.
  TITLE     Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel
            CTSC variants and functional characterization of a missense variant
            and its effect on splicing
  JOURNAL   Arch Oral Biol 158, 105869 (2024)
   PUBMED   38104461
  REMARK    GeneRIF: Papillon-Lefevre syndrome in twelve Egyptian patients:
            Five novel CTSC variants and functional characterization of a
            missense variant and its effect on splicing.
REFERENCE   3  (bases 1 to 1870)
  AUTHORS   Sakai,A., Shinkuma,S., Miura,N., Deguchi,T., Oginezawa,M.,
            Nakajima,M., Katsumi,T., Hayashi,R. and Abe,R.
  TITLE     Possible relation of cathepsin C activity and seasonal fluctuation
            of skin lesions in Papillon-Lefevre syndrome
  JOURNAL   Br J Dermatol 190 (2), 272-274 (2024)
   PUBMED   37757845
  REMARK    GeneRIF: Possible relation of cathepsin C activity and seasonal
            fluctuation of skin lesions in Papillon-Lefevre syndrome.
REFERENCE   4  (bases 1 to 1870)
  AUTHORS   Aghdassi,A.A., Pham,C., Zierke,L., Mariaule,V., Korkmaz,B. and
            Rhimi,M.
  TITLE     Cathepsin C role in inflammatory gastroenterological, renal,
            rheumatic, and pulmonary disorders
  JOURNAL   Biochimie 216, 175-180 (2024)
   PUBMED   37758158
  REMARK    GeneRIF: Cathepsin C role in inflammatory gastroenterological,
            renal, rheumatic, and pulmonary disorders.
            Review article
REFERENCE   5  (bases 1 to 1870)
  AUTHORS   Song,J., Zhu,N., Pan,X., Guo,L. and Kong,X.
  TITLE     Expression and significance of cathepsin C and cathepsin D during
            pregnancy and Preeclampsia
  JOURNAL   Reprod Biol Endocrinol 21 (1), 92 (2023)
   PUBMED   37794357
  REMARK    GeneRIF: Expression and significance of cathepsin C and cathepsin D
            during pregnancy and Preeclampsia.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1870)
  AUTHORS   Perisic Nanut,M., Sabotic,J., Jewett,A. and Kos,J.
  TITLE     Cysteine cathepsins as regulators of the cytotoxicity of NK and T
            cells
  JOURNAL   Front Immunol 5, 616 (2014)
   PUBMED   25520721
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1870)
  AUTHORS   Dolenc,I., Turk,B., Pungercic,G., Ritonja,A. and Turk,V.
  TITLE     Oligomeric structure and substrate induced inhibition of human
            cathepsin C
  JOURNAL   J Biol Chem 270 (37), 21626-21631 (1995)
   PUBMED   7665576
REFERENCE   8  (bases 1 to 1870)
  AUTHORS   Paris,A., Strukelj,B., Pungercar,J., Renko,M., Dolenc,I. and
            Turk,V.
  TITLE     Molecular cloning and sequence analysis of human preprocathepsin C
  JOURNAL   FEBS Lett 369 (2-3), 326-330 (1995)
   PUBMED   7649281
REFERENCE   9  (bases 1 to 1870)
  AUTHORS   McGuire,M.J., Lipsky,P.E. and Thiele,D.L.
  TITLE     Generation of active myeloid and lymphoid granule serine proteases
            requires processing by the granule thiol protease dipeptidyl
            peptidase I
  JOURNAL   J Biol Chem 268 (4), 2458-2467 (1993)
   PUBMED   8428921
REFERENCE   10 (bases 1 to 1870)
  AUTHORS   McGuire,M.J., Lipsky,P.E. and Thiele,D.L.
  TITLE     Purification and characterization of dipeptidyl peptidase I from
            human spleen
  JOURNAL   Arch Biochem Biophys 295 (2), 280-288 (1992)
   PUBMED   1586157
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011088.8.
            
            On Nov 22, 2018 this sequence version replaced NM_001814.5.
            
            Summary: This gene encodes a member of the peptidase C1 family and
            lysosomal cysteine proteinase that appears to be a central
            coordinator for activation of many serine proteinases in cells of
            the immune system. Alternative splicing results in multiple
            transcript variants, at least one of which encodes a preproprotein
            that is proteolytically processed to generate heavy and light
            chains that form a disulfide-linked dimer. A portion of the
            propeptide acts as an intramolecular chaperone for the folding and
            stabilization of the mature enzyme. This enzyme requires chloride
            ions for activity and can degrade glucagon. Defects in the encoded
            protein have been shown to be a cause of Papillon-Lefevre syndrome,
            an autosomal recessive disorder characterized by palmoplantar
            keratosis and periodontitis. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the longest isoform (a).
            
            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 :: AK223038.1, BC107770.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158569 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000227266.10/ ENSP00000227266.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-236               AC011088.8         150114-150349       c
            237-382             AC011088.8         147550-147695       c
            383-549             AC011088.8         125001-125167       c
            550-705             AC011088.8         121776-121931       c
            706-821             AC011088.8         113143-113258       c
            822-953             AC011088.8         108746-108877       c
            954-1870            AC011088.8         106205-107121       c
FEATURES             Location/Qualifiers
     source          1..1870
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.2"
     gene            1..1870
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /note="cathepsin C"
                     /db_xref="GeneID:1075"
                     /db_xref="HGNC:HGNC:2528"
                     /db_xref="MIM:602365"
     exon            1..236
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..1456
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /EC_number="3.4.14.1"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 1; dipeptidyl-peptidase I; dipeptidyl transferase;
                     cathepsin J; dipeptidyl peptidase 1"
                     /codon_start=1
                     /product="dipeptidyl peptidase 1 isoform a preproprotein"
                     /protein_id="NP_001805.4"
                     /db_xref="CCDS:CCDS8282.1"
                     /db_xref="GeneID:1075"
                     /db_xref="HGNC:HGNC:2528"
                     /db_xref="MIM:602365"
                     /translation="MGAGPSLLLAALLLLLSGDGAVRCDTPANCTYLDLLGTWVFQVG
                     SSGSQRDVNCSVMGPQEKKVVVYLQKLDTAYDDLGNSGHFTIIYNQGFEIVLNDYKWF
                     AFFKYKEEGSKVTTYCNETMTGWVHDVLGRNWACFTGKKVGTASENVYVNIAHLKNSQ
                     EKYSNRLYKYDHNFVKAINAIQKSWTATTYMEYETLTLGDMIRRSGGHSRKIPRPKPA
                     PLTAEIQQKILHLPTSWDWRNVHGINFVSPVRNQASCGSCYSFASMGMLEARIRILTN
                     NSQTPILSPQEVVSCSQYAQGCEGGFPYLIAGKYAQDFGLVEEACFPYTGTDSPCKMK
                     EDCFRYYSSEYHYVGGFYGGCNEALMKLELVHHGPMAVAFEVYDDFLHYKKGIYHHTG
                     LRDPFNPFELTNHAVLLVGYGTDSASGMDYWIVKNSWGTGWGENGYFRIRRGTDECAI
                     ESIAVAATPIPKL"
     exon            237..382
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /inference="alignment:Splign:2.1.0"
     exon            383..549
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /inference="alignment:Splign:2.1.0"
     exon            550..705
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /inference="alignment:Splign:2.1.0"
     exon            706..821
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /inference="alignment:Splign:2.1.0"
     exon            822..953
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1870
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1826..1831
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /note="hexamer: AATAGA"
     regulatory      1847..1852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /note="hexamer: AATAAA"
     polyA_site      1862
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
     polyA_site      1870
                     /gene="CTSC"
                     /gene_synonym="CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD;
                     PALS; PDON1; PLS"
                     /note="major polyA site"
ORIGIN      
        1 accgctagcc cgcagcgctc ggcttcctgg taattcttca cctcttttct cagctccctg
       61 cagcatgggt gctgggccct ccttgctgct cgccgccctc ctgctgcttc tctccggcga
      121 cggcgccgtg cgctgcgaca cacctgccaa ctgcacctat cttgacctgc tgggcacctg
      181 ggtcttccag gtgggctcca gcggttccca gcgcgatgtc aactgctcgg ttatgggacc
      241 acaagaaaaa aaagtagtgg tgtaccttca gaagctggat acagcatatg atgaccttgg
      301 caattctggc catttcacca tcatttacaa ccaaggcttt gagattgtgt tgaatgacta
      361 caagtggttt gcctttttta agtataaaga agagggcagc aaggtgacca cttactgcaa
      421 cgagacaatg actgggtggg tgcatgatgt gttgggccgg aactgggctt gtttcaccgg
      481 aaagaaggtg ggaactgcct ctgagaatgt gtatgtcaac atagcacacc ttaagaattc
      541 tcaggaaaag tattctaata ggctctacaa gtatgatcac aactttgtga aagctatcaa
      601 tgccattcag aagtcttgga ctgcaactac atacatggaa tatgagactc ttaccctggg
      661 agatatgatt aggagaagtg gtggccacag tcgaaaaatc ccaaggccca aacctgcacc
      721 actgactgct gaaatacagc aaaagatttt gcatttgcca acatcttggg actggagaaa
      781 tgttcatggt atcaattttg tcagtcctgt tcgaaaccaa gcatcctgtg gcagctgcta
      841 ctcatttgct tctatgggta tgctagaagc gagaatccgt atactaacca acaattctca
      901 gaccccaatc ctaagccctc aggaggttgt gtcttgtagc cagtatgctc aaggctgtga
      961 aggcggcttc ccatacctta ttgcaggaaa gtacgcccaa gattttgggc tggtggaaga
     1021 agcttgcttc ccctacacag gcactgattc tccatgcaaa atgaaggaag actgctttcg
     1081 ttattactcc tctgagtacc actatgtagg aggtttctat ggaggctgca atgaagccct
     1141 gatgaagctt gagttggtcc atcatgggcc catggcagtt gcttttgaag tatatgatga
     1201 cttcctccac tacaaaaagg ggatctacca ccacactggt ctaagagacc ctttcaaccc
     1261 ctttgagctg actaatcatg ctgttctgct tgtgggctat ggcactgact cagcctctgg
     1321 gatggattac tggattgtta aaaacagctg gggcaccggc tggggtgaga atggctactt
     1381 ccggatccgc agaggaactg atgagtgtgc aattgagagc atagcagtgg cagccacacc
     1441 aattcctaaa ttgtagggta tgccttccag tatttcataa tgatctgcat cagttgtaaa
     1501 ggggaattgg tatattcaca gactgtagac tttcagcagc aatctcagaa gcttacaaat
     1561 agatttccat gaagatattt gtcttcagaa ttaaaactgc ccttaatttt aatatacctt
     1621 tcaatcggcc actggccatt tttttctaag tattcaatta agtgggaatt ttctggaaga
     1681 tggtcagcta tgaagtaata gagtttgctt aatcatttgt aattcaaaca tgctatattt
     1741 tttaaaatca atgtgaaaac atagacttat ttttaaattg taccaatcac aagaaaataa
     1801 tggcaataat tatcaaaact tttaaaatag atgctcatat ttttaaaata aagttttaaa
     1861 aataactgca
//
