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CTSC Gene

protein-coding   GIFtS: 68
GCID: GC11M088026

Cathepsin C


(Previous symbols: PLS, PALS)
  See CTSC-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)
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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     PDON12 5
Cathepsin J2 3     DPP12
Dipeptidyl Peptidase I2 3     JP2
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 palmoplantar keratosis, and papillon-lefevre disease. GO annotations related to this gene include cysteine-type peptidase activity and identical protein binding. An important paralog of this gene is CTSF.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   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 Chromatin IP Primers for CTSC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • 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 complexes1
  • 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 bond1
  • Glycosylation2 at Asn29, Asn53, Asn119, Asn276
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CTSC (P53634) (see all 13)
     RYYSSEY  YVGGFYG  HNFVKAIN  QTPILSPQE 


    See CTSC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    CTSC Human Recombinant Protein Products:

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    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

     
    Search eBioscience for Proteins for CTSC 

     
    antibodies-online proteins for CTSC (10 products) 

     
    antibodies-online peptides for CTSC

    CTSC Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for CTSC
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    antibodies-online antibodies for CTSC (43 products) 

    CTSC Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for CTSC
    Cloud-Clone Corp. CLIAs for CTSC
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    antibodies-online kits for CTSC (30 products) 


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

    Selected 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


    Find genes that share domains with CTSC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 7):    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:0016505peptidase activator activity involved in apoptotic process IEA--
    GO:0031404chloride ion binding IEA--
         
    Find genes that share ontologies with CTSC           About GenesLikeMe


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

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

    Find genes that share phenotypes with CTSC           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ctsctm1Ley for CTSC

       genOway: Develop your customized and physiologically relevant rodent model for CTSC

    miRNA
    Products:
        
    miRTarBase miRNAs that target CTSC:
    hsa-mir-1 (MIRT001372), hsa-mir-30c-5p (MIRT047909), hsa-mir-375 (MIRT019957), hsa-mir-98-5p (MIRT027765)

    Block miRNA regulation of human, mouse, rat CTSC using miScript Target Protectors
    Selected qRT-PCR 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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    OriGene RNAi products in human, mouse, rat for CTSC
    Predesigned siRNA for gene silencing in human, mouse, rat CTSC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CTSC

    Clone
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    OriGene clones in human, mouse for CTSC (see all 18)
    OriGene ORF clones in mouse, rat for CTSC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CTSC 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CATC_HUMAN, P53634: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    endoplasmic reticulum2
    extracellular2
    golgi apparatus2
    nucleus2
    plasma membrane2
    cytoskeleton1
    cytosol1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome TAS7665576
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with CTSC           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CTSC About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    2MHC class II antigen presentation
    MHC class II antigen presentation
    3Lysosome
    Lysosome


    Find genes that share SuperPaths with CTSC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for CTSC
        MHC class II antigen presentation


    1 Kegg Pathway  (Kegg details for CTSC):
        Lysosome

        Pathway & Disease-focused RT2 Profiler PCR Array including CTSC: 
              Alzheimer's Disease in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CTSC

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for CTSC (P536341, 2, 3 ENSP000002272664) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CST7O760961, 2, 3, ENSP000003660314EBI-1047323,EBI-2807448 MINT-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): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001913T cell mediated cytotoxicity IEA--
    GO:0006508proteolysis IDA8811434
    GO:0006915apoptotic process ----
    GO:0006955immune response TAS9092576
    GO:0007568aging IEA--

    Find genes that share ontologies with CTSC           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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)



    Find genes that share compounds with CTSC           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR 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
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    GenScript: all cDNA clones in your preferred vector (see all 3): CTSC (NM_001114173)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSC
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CTSC
      QuantiFast Probe-based Assays in human, mouse, rat CTSC

    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 

    Selected AceView cDNA sequences (see all 708):

    BF342328 BM694174 AI474061 CB160320 BM971767 CA306057 BX445345 CR610221 
    BX338303 CR613100 AI346633 CR617349 BX459226 AI367291 BX096068 CA310180 
    BQ181750 CR601485 CD743240 AW468843 BC008059 CA306700 BQ221810 CR618171 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CTSC expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 18) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Mature Granulosa Cells Antral Follicle
             Oviduct
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Periportal Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Bone Marrow
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
    CTSC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTSC Protein Expression

    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

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CTSC gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctsc1 , 5 cathepsin C1, 5 82.32(n)1
    79.1(a)1
      7 (49.11 cM)5
    130321  NM_009982.41  NP_034112.31 
     882780855 
    chicken
    (Gallus gallus)
    Aves CTSC1 cathepsin C 71.66(n)
    70.75(a)
      419014  XM_417207.4  XP_417207.3 
    lizard
    (Anolis carolinensis)
    Reptilia CTSC6
    cathepsin C
    70(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 
    worm
    (Caenorhabditis elegans)
    Secernentea cpz-26
    Protein CPZ-2 (cpz-2) mRNA, complete cds
    24(a)
    1 ↔ 1
    V(13381189-13383076) WBGene00000789


    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)
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    Paralogs for CTSC gene
    CTSF2  CTSO2  CTSW2  CTSV2  CTSK2  CTSS2  CTSH2  CTSL2  
    CTSZ2  

    Find genes that share paralogs with CTSC           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CTSC (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
    ----------
    rs289375711,2,,4
    CPeriodontititis, aggressive, 1 (AP1)4 pathogenic187896989(-) GGGCTA/GTGGCA 2 Y C mis1 ese30--------
    rs1512692191,2,,4
    CPapillon-Lefevre syndrome (PLS)4 --87897010(+) CAGCAC/TGATTA 2 H R mis10--------
    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--------

    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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 12 diseases for CTSC:    
    About MalaCards
    palmoplantar keratosis    papillon-lefevre disease    periodontitis    periodontitis 1, juvenile
    haim-munk syndrome    pleural empyema    hypermobility syndrome    keratosis
    oculocutaneous albinism type 1    trophoblastic neoplasm    gestational trophoblastic neoplasm    citrin deficiency

    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

    Find genes that share disorders with CTSC           About GenesLikeMe

    Selected 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)
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    PubMed articles for CTSC gene, integrated from 10 sources (see all 185):
    (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. (J. Biol. Chem. 1997)
    2. Molecular cloning and sequence analysis of human preprocathepsin C. (PubMed id 7649281)1, 2, 3, 9 Paris A.... Turk V. (FEBS Lett. 1995)
    3. Purification and characterization of dipeptidyl peptidase I from human spleen. (PubMed id 1586157)1, 2, 9 McGuire M.J.... Thiele D.L. (Arch. Biochem. Biophys. 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. (Hum. Mutat. 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. (J. Med. Genet. 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. (EMBO J. 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. (J. Med. Genet. 2000)
    8. Cathepsin C gene variants in aggressive periodontitis. (PubMed id 18809751)1, 4, 9 Noack B....Schackert H.K. (J. Dent. Res. 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. (Hum. Mutat. 2004)
    10. Oligomeric structure and substrate induced inhibition of human cathepsin C. (PubMed id 7665576)1, 2, 9 Dolenc I.... Turk V. (J. Biol. Chem. 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1075 HGNC: 2528 AceView: CTSC Ensembl:ENSG00000109861 euGenes: HUgn1075
    ECgene: CTSC Kegg: 1075 H-InvDB: CTSC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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