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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CTSC Gene

protein-coding   GIFtS: 68
GCID: GC11M088026

Cathepsin C


(Previous symbols: PLS, PALS)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cathepsin C1 2 3     DPPI2 3
PALS1 2 5     EC 3.4.14.13 8
PLS1 2 5     HMS2 5
CPPI2 3 5     JPD2 5
Dipeptidyl Peptidase 11 2     DPP12
Cathepsin J2 3     JP2
Dipeptidyl Peptidase I2 3     PDON12
Dipeptidyl Transferase2 3     Dipeptidyl-Peptidase I2
DPP-I2 3     

External Ids:    HGNC: 25281   Entrez Gene: 10752   Ensembl: ENSG000001098617   OMIM: 6023655   UniProtKB: P536343   

Export aliases for CTSC gene to outside databases

Previous GC identifers: GC11M090350 GC11M089573 GC11M088211 GC11M087714 GC11M087666 GC11M084265


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CTSC Gene:
The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that
appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells. It is
composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor,
and a residual 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. Multiple transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CTSC Gene: 
CTSC (cathepsin C) is a protein-coding gene. Diseases associated with CTSC include aggressive periodontitis, and haim-munk syndrome, and among its related super-pathways are Immune System and Kinesins. GO annotations related to this gene include cysteine-type peptidase activity and identical protein binding. An important paralog of this gene is TINAG.

UniProtKB/Swiss-Prot: CATC_HUMAN, P53634
Function: Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates
composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot
occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine
proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII

Gene Wiki entry for CTSC (Cathepsin C) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CTSC gene promoter:
         MEF-2A   C/EBPbeta   AML1a   aMEF-2   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTSC promoter sequence
   Search SABiosciences Chromatin IP Primers for CTSC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTSC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q14.2   Ensembl cytogenetic band:  11q14.2   HGNC cytogenetic band: 11q14.2

CTSC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTSC gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M088026:  view genomic region     (about GC identifiers)

Start:
88,026,760 bp from pter      End:
88,070,955 bp from pter
Size:
44,196 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CATC_HUMAN, P53634 (See protein sequence)
Recommended Name: Dipeptidyl peptidase 1 precursor  
Size: 463 amino acids; 51854 Da
Cofactor: Binds 1 chloride ion per heavy chain
Subunit: Tetramer of heterotrimers consisting of exclusion domain, heavy- and light chains
Subcellular location: Lysosome
Sequence caution: Sequence=CAD97897.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
4 PDB 3D structures from and Proteopedia for CTSC:
1K3B (3D)        2DJF (3D)        2DJG (3D)        3PDF (3D)    
Secondary accessions: A8K7V2 B5MDD5 Q2HIY8 Q53G93 Q71E75 Q71E76 Q7M4N9 Q7Z3G7 Q7Z5U7 Q8WY99
Q8WYA7 Q8WYA8
Alternative splicing: 3 isoforms:  P53634-1   P53634-2   P53634-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CTSC: NX_P53634

Explore proteomics data for CTSC at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated. While glycosylation at Asn-53, Asn-119 and Asn-276 is mediated by STT3A-containing complexes,
    glycosylation at Asn-29 is mediated STT3B-containing complexes
  • UniProtKB: In approximately 50% of the complexes the exclusion domain is cleaved at position 58 or 61. The two parts of the
    exclusion domain are held together by a disulfide bond
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P53634

  • 4/13 DME Specific Peptides for CTSC (P53634) (see all 13)
     RYYSSEY  YVGGFYG  HNFVKAIN  QTPILSPQE 

    CTSC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CTSC Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001107645.1  NP_001805.3  NP_680475.1  

    ENSEMBL proteins: 
     ENSP00000227266   ENSP00000432556   ENSP00000432541   ENSP00000433229   ENSP00000433539  
    Reactome Protein details: P53634
    Human Recombinant Protein Products for CTSC: 
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    OriGene Protein Over-expression Lysate for CTSC
    OriGene MassSpec for CTSC 
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    Novus Biologicals CTSC Protein
    Novus Biologicals CTSC Lysates
    Sino Biological Recombinant Protein for CTSC
    Sino Biological Cell Lysate for CTSC 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CTSC 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome TAS7665576
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--

    CTSC for ontologies           About GeneDecksing



    CTSC Antibody Products: 
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    Novus Biologicals CTSC Antibodies
    Abcam antibodies for CTSC
    Cloud-Clone Corp. Antibodies for CTSC 
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    LSBio Antibodies in human, mouse, rat for CTSC 

    Assay Products for CTSC: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CTSC 
    Cloud-Clone Corp. CLIAs for CTSC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CTS: Cathepsins

    5/6 InterPro protein domains (see all 6):
     IPR013128 Peptidase_C1A
     IPR025661 Pept_asp_AS
     IPR014882 CathepsinC_exc
     IPR000169 Pept_cys_AS
     IPR025660 Pept_his_AS

    Graphical View of Domain Structure for InterPro Entry P53634

    ProtoNet protein and cluster: P53634

    1 Blocks protein domain: IPB000668 Papain cysteine protease (C1) family signature

    UniProtKB/Swiss-Prot: CATC_HUMAN, P53634
    Similarity: Belongs to the peptidase C1 family


    CTSC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CATC_HUMAN, P53634
    Function: Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates
    composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot
    occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine
    proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII
    Catalytic activity: Release of an N-terminal dipeptide, Xaa-Yaa- -Zaa-, except when Xaa is Arg or Lys, or Yaa or
    Zaa is Pro
    Enzyme regulation: Strongly inhibited by the cysteine peptidase inhibitors mersalyl acid, iodoacetic acid and
    cystatin. Inhibited by N-ethylmaleimide, Gly-Phe-diazomethane, TLCK, TPCK and, at low pH, by dithiodipyridine.
    Not inhibited by the serine peptidase inhibitor PMSF, the aminopeptidase inhibitor bestatin, or metal ion
    chelators
    Biophysicochemical properties: pH dependence: High activity at pH 4.5-6.8;
    Induction: Up-regulated in lymphocytes by IL2/interleukin-2

         Genatlas biochemistry entry for CTSC:
    cathepsin C,lysosomal cysteine protease,papain superfamily,mainly expressed in lung,kidney,placenta,polynuclear
    leukocytes,alveolar macrophages,activated by chloride ion,potentially involved with chloride in the regulation of
    proleolysis in the lysosome

         Enzyme Number (IUBMB): EC 3.4.14.11 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005515protein binding IPI18256700
    GO:0008234cysteine-type peptidase activity IDA8811434
    GO:0031404chloride ion binding IEA--
    GO:0042802identical protein binding IEA--
         
    CTSC for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CTSC:
     Decreased G3BP1 protein expres  Increased cell death HMECs cel  Synthetic lethal with c-Myc af 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ctsc):
     behavior/neurological  cellular  growth/size  homeostasis/metabolism  immune system 
     integument  nervous system  normal 

    CTSC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ctsctm1Ley for CTSC

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CTSC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CTSC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CTSC 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CTSC 

    miRNA
    Products:
        
    miRTarBase miRNAs that target CTSC:
    hsa-mir-1 (MIRT001372)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTSC
    8/27 QIAGEN miScript miRNA Assays for microRNAs that regulate CTSC (see all 27):
    hsa-let-7d hsa-miR-513c hsa-let-7c hsa-miR-421 hsa-miR-27b* hsa-miR-374a* hsa-let-7g hsa-miR-141*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): CTSC (NM_001114173)
    Sino Biological Human cDNA Clone for CTSC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTSC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSC
    Sirion Biotech Customized lentivirus for stable overexpression of CTSC 
                         Customized lentivirus expression plasmids for stable overexpression of CTSC 

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSC


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CTSC About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Immune System
    Immune System0.56
    Adaptive Immune System0.56
    2MHC class II antigen presentation
    MHC class II antigen presentation0.32
    3Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for CTSC
        Adaptive Immune System
    Immune System
    MHC class II antigen presentation


    1         Kegg Pathway  (Kegg details for CTSC):
        Lysosome


    CTSC for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CTSC

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for CTSC (P536342, 3 ENSP000002272664) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CST7O760962, 3, ENSP000003660314MINT-6179696 MINT-6179710 I2D: score=2 STRING: ENSP00000366031
    CAPN1P073843, ENSP000002792474I2D: score=3 STRING: ENSP00000279247
    CTSLP077113, ENSP000003453444I2D: score=2 STRING: ENSP00000345344
    APPBP2Q926243I2D: score=1 
    CAPN3ENSP000003803494STRING: ENSP00000380349
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001913T cell mediated cytotoxicity IEA--
    GO:0006508proteolysis IDA8811434
    GO:0006955immune response TAS9092576
    GO:0007568aging IEA--
    GO:0010033response to organic substance IEA--

    CTSC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CTSC for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CTSC (CATC)

    1 HMDB Compound for CTSC    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    10/18 Novoseek inferred chemical compound relationships for CTSC gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leu-leu-ome 93 6 1586157 (1), 1602138 (1), 14634338 (1), 10860815 (1)
    7-amino-4-methylcoumarin 73.5 7 12139965 (4), 15110195 (1), 18437310 (1)
    actinidin 66.9 1 7575465 (1)
    cysteine 63.4 30 11829493 (2), 9092576 (1), 11886537 (1), 17303050 (1) (see all 21)
    serine 48.9 38 15585850 (4), 8428921 (3), 15108292 (2), 11726493 (2) (see all 13)
    imac 40.3 1 9882579 (1)
    chlorhexidine gluconate 35.9 1 17458068 (1)
    nh4cl 19.5 2 8621689 (1)
    guanidine hydrochloride 14.4 3 10222225 (3)
    chloride 0 3 10491143 (3)

    Search CenterWatch for drugs/clinical trials and news about CTSC / CATC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CTSC gene (3 alternative transcripts): 
    NM_001114173.1  NM_001814.4  NM_148170.3  

    Unigene Cluster for CTSC:

    Cathepsin C
    Hs.128065  [show with all ESTs]
    Unigene Representative Sequence: BX537913
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000227266(uc001pck.4 uc001pcl.4) ENST00000533897 ENST00000527018
    ENST00000533865 ENST00000524463(uc001pcm.4 uc001pcn.4) ENST00000528020
    ENST00000529974 ENST00000393301 ENST00000534131
    miRNA
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    8/27 QIAGEN miScript miRNA Assays for microRNAs that regulate CTSC (see all 27):
    hsa-let-7d hsa-miR-513c hsa-let-7c hsa-miR-421 hsa-miR-27b* hsa-miR-374a* hsa-let-7g hsa-miR-141*
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    Clone
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    Additional mRNA sequence: 

    AF234263.1 AF234264.1 AF254757.1 AF525032.1 AF525033.1 AK223038.1 AK292117.1 AK296190.1 
    AK311923.1 BC023559.2 BC054028.1 BC100891.1 BC100892.1 BC100893.1 BC100894.1 BC107770.1 
    BC109386.1 BC110071.1 BC113850.1 BC113897.1 BX537913.1 X87212.1 

    21 DOTS entries:

    DT.100864854  DT.449370  DT.91716213  DT.40107806  DT.100041227  DT.100682493  DT.100682498  DT.100044613 
    DT.100647011  DT.120719728  DT.105792  DT.120719739  DT.120719686  DT.95128138  DT.120719711  DT.120719735 
    DT.40269641  DT.91758314  DT.92420753  DT.95074645  DT.95264770 

    24/708 AceView cDNA sequences (see all 708):

    BM976158 BX358376 BM704674 CR612418 BQ672241 BX438246 CA308572 CR597937 
    BG032350 BM846382 BM711529 BG029761 BF435253 CR595572 CR610023 BM997817 
    CA450006 BE855543 AI474061 BQ181750 CB529845 CR616827 CB158889 AI339769 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CTSC (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:        -     -     -     -     -     -     -                 -                                 
    SP2:        -     -     -     -     -     -     -                                                   
    SP3:                                                                                                
    SP4:              -                                                                                 
    SP5:              -     -                                                                           


    ECgene alternative splicing isoforms for CTSC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CTSC expression in normal human tissues (normalized intensities)      CTSC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTATATTTTT
    CTSC Expression
    About this image


    CTSC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Uterus (Reproductive System)    fully expand to see all 4 entries
             uterus, post-menopause ; glandular cells   
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Periportal Hepatocytes Liver Lobule
             liver ; bile duct cells   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Periosteum
             Human fetal bone marrow-derived mesenchymal stromal cells
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   

    See CTSC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CTSC

    SOURCE GeneReport for Unigene cluster: Hs.128065

    UniProtKB/Swiss-Prot: CATC_HUMAN, P53634
    Tissue specificity: Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in
    colon, small intestine, spleen and pancreas

        SABiosciences Expression via Pathway-Focused PCR Array including CTSC: 
              Alzheimer's Disease in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CTSC gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctsc1 , 5 cathepsin C1, 5 81.75(n)1
    77.92(a)1
      7 (49.11 cM)5
    130321  NM_009982.41  NP_034112.31 
     882780855 
    chicken
    (Gallus gallus)
    Aves CTSC1 cathepsin C 71.24(n)
    69.91(a)
      419014  XM_417207.3  XP_417207.2 
    lizard
    (Anolis carolinensis)
    Reptilia CTSC6
    Uncharacterized protein
    69(a)
    1 ↔ 1
    3(199471328-199507738)
    African clawed frog
    (Xenopus laevis)
    Amphibia ctsc-prov2 cathepsin C 76.1(n)    BC056109.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ctsc2 Danio rerio cDNA clone MGC77609 IMAGE6996489, complete more 75.95(n)    BC064286.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG63476
    CG114596
    (see all 4)
    --
    21(a)
    20(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    2R(9723926-9726869)
    3R(1851832-1852962)
    worm
    (Caenorhabditis elegans)
    Secernentea C32B5.136
    C32B5.76
    (see all 8)
    Protein C32B5.7
    (see all 8)
    25(a)
    24(a)
    (see all 8)
    possible ortholog
    possible ortholog
    (see all 8)
    II(961352-962121)
    II(960528-964260)


    ENSEMBL Gene Tree for CTSC (if available)
    TreeFam Gene Tree for CTSC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CTSC gene
    TINAG2  CTSF2  CTSO2  CTSW2  CTSV2  CTSK2  CTSB2  CTSS2  
    CTSH2  TINAGL12  CTSZ2  CTSL2  

    CTSC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1085 SNPs in CTSC are shown (see all 1085)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0095424
    Papillon-Lefevre syndrome (PLS)4--see VAR_0095422 Q L mis40--------
    VAR_0095464
    Periodontititis, aggressive, 1 (AP1)4--see VAR_0095462 Y C mis40--------
    VAR_0396864
    Papillon-Lefevre syndrome (PLS)4--see VAR_0396862 Y H mis40--------
    VAR_0272494
    Papillon-Lefevre syndrome (PLS)4--see VAR_0272492 H N mis40--------
    VAR_0095444
    Papillon-Lefevre syndrome (PLS)4--see VAR_0095442 G S mis40--------
    VAR_0169334
    Papillon-Lefevre syndrome (PLS)4--see VAR_0169332 W S mis40--------
    VAR_0190434
    Papillon-Lefevre syndrome (PLS)4--see VAR_0190432 G V mis40--------
    VAR_0190424
    Papillon-Lefevre syndrome (PLS)4--see VAR_0190422 G S mis40--------
    VAR_0190384
    Papillon-Lefevre syndrome (PLS)4--see VAR_0190382 D Y mis40--------
    VAR_0095414
    Papillon-Lefevre syndrome (PLS)4--see VAR_0095412 V F mis40--------

    HapMap Linkage Disequilibrium report for CTSC (88026760 - 88070955 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CTSC:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv898082CNV Gain21882294


    Human Gene Mutation Database (HGMD): CTSC

    Locus Specific Mutation Databases (LSDB): CTSC
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CTSC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602365   
    OMIM disorders: 245000  245010  170650  
    UniProtKB/Swiss-Prot: CATC_HUMAN, P53634
  • Papillon-Lefevre syndrome (PLS) [MIM:245000]: An autosomal recessive disorder characterized by
    palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in
    premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt
    hyperkeratosis. Keratosis also affects other sites such as elbows and knees. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Haim-Munk syndrome (HMS) [MIM:245010]: An autosomal recessive disorder characterized by palmoplantar
    keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and
    acroosteolysis. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Periodontititis, aggressive, 1 (AP1) [MIM:170650]: A disease characterized by severe and protracted
    gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally
    inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss
    may be self arresting. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/33 diseases for CTSC (see all 33):    About MalaCards
    aggressive periodontitis    haim-munk syndrome    palmoplantar keratosis    papillon-lefevre disease
    periodontitis    keratosis    pleural empyema    hypermobility syndrome
    oculocutaneous albinism type 1    gestational trophoblastic neoplasm    trophoblastic neoplasm    paratyphoid fever
    oculocutaneous albinism    keratoderma    astigmatism    albinism
    periodontal disease    protein s deficiency    hypotrichosis    myopia

    8 diseases from the University of Copenhagen DISEASES database for CTSC:
    Hypermobility syndrome     Palmoplantar keratosis     Periodontal disease     Gestational trophoblastic neoplasm
    Plague     Pleural empyema     Myopia     Astigmatism

    CTSC for disorders           About GeneDecksing

    10/13 Novoseek inferred disease relationships for CTSC gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    papillon-lefevre syndrome 95.9 21 11158173 (2), 16410452 (2), 14974080 (2), 11180012 (2) (see all 13)
    haim-munk syndrome 90 2 10662807 (1), 15727652 (1)
    keratoderma palmoplantar 80.3 4 14974080 (1), 12207605 (1), 15708285 (1), 11106356 (1)
    hyperkeratosis 77.7 4 10593994 (1), 18294227 (1)
    prepubertal periodontitis 68.4 6 14974080 (4), 16128836 (1)
    protein deficiency 48.4 1 17956257 (1)
    periodontal diseases 34.8 1 10593994 (1)
    mastocytoma 33.5 3 9624139 (2), 8428921 (1)
    necrosis 0 2 1697428 (2)
    colon cancer 0 1 15612246 (1)

    Genetic Association Database (GAD): CTSC
    Human Genome Epidemiology (HuGE) Navigator: CTSC (3 documents)

    Export disorders for CTSC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CTSC gene, integrated from 9 sources (see all 180):
    (articles sorted by number of sources associating them with CTSC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human dipeptidyl-peptidase I. Gene characterization, localization, and expression. (PubMed id 9092576)1, 2, 3, 9 Rao N.V....Hoidal J.R. (1997)
    2. Molecular cloning and sequence analysis of human preprocathepsin C. (PubMed id 7649281)1, 2, 3, 9 Paris A.... Turk V. (1995)
    3. Purification and characterization of dipeptidyl peptidase I from human spleen. (PubMed id 1586157)1, 2, 9 McGuire M.J.... Thiele D.L. (1992)
    4. The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis. (PubMed id 14974080)1, 2, 9 Hewitt C.... Thakker N.S. (2004)
    5. Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients. (PubMed id 11158173)1, 2, 9 Zhang Y.... Hart T.C. (2001)
    6. Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases. (PubMed id 11726493)1, 2, 9 Turk D.... Turk B. (2001)
    7. Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients. (PubMed id 11106356)1, 2, 9 Hart P.S.... Hart T.C. (2000)
    8. Cathepsin C gene variants in aggressive periodontitis. (PubMed id 18809751)1, 4, 9 Noack B....Schackert H.K. (2008)
    9. Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs. (PubMed id 15108292)1, 2, 9 de Haar S.F....Beertsen W. (2004)
    10. Oligomeric structure and substrate induced inhibition of human cathepsin C. (PubMed id 7665576)1, 2, 9 Dolenc I.... Turk V. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1075 HGNC: 2528 AceView: CTSC Ensembl:ENSG00000109861 euGenes: HUgn1075
    ECgene: CTSC Kegg: 1075 H-InvDB: CTSC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CTSC Pharmacogenomics, SNPs, Pathways
    CTSCbasehttp://bioinf.uta.fi/CTSCbase/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CTSC gene:
    Search GeneIP for patents involving CTSC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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