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

CTSC Gene

protein-coding   GIFtS: 66
GCID: GC11M088026

cathepsin C


(Previous symbols: PLS, PALS)
 Explore 36 diseases affiliated with
CTSC via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CTSC    

Aliases
for CTSC gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
DPP11 2     JP2
Cathepsin J2 3     PDON12
Dipeptidyl Peptidase I2 3     Dipeptidyl Peptidase 12
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


Summaries
for CTSC gene

(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:
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)

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)


Genomic Views
for CTSC 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  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 plasmid: CTSC 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

Proteins
for CTSC gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    OriGene Purified Protein: CTSC
    OriGene Protein Over-expression Lysate (see all 2): CTSC
    OriGene Custom Protein Services for CTSC 
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    Novus Biologicals CTSC Protein
    Novus Biologicals CTSC Lysates
    Sino Biological Recombinant Protein for CTSC
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn Antibodies for CTSC
    Search ThermoFisher Antibodies for CTSC

    Assay Products for CTSC: 
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    Uscn ELISAs and CLIAs for CTSC

    Protein Domains /
    Families
    for CTSC gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CTSC for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: IPB000668 Papain cysteine protease (C1) family signature

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


    Function
    for CTSC gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

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

    OriGene 3'-UTR Clone (see all 3): CTSC
    Browse MicroRNA Expression Plasmids
    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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CTSC (see all 7)
    OriGene shRNA RFP: CTSC
    OriGene siRNA: CTSC
    QIAGEN FlexiTube/FlexiPlate 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 Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CTSC (see all 5)
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    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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSC 

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    Search LifeMap BioReagents cell lines for CTSC

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0008234cysteine-type peptidase activity IDA8811434
    GO:0031404chloride ion binding IEA--
    GO:0042802identical protein binding IEA--
    GO:0043621protein self-association IEA--


    CTSC for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Ctsctm1Ley for CTSC
         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


    Pathways & Interactions
    for CTSC gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune System
    		Immune System1.00
    		Adaptive Immune System0.59
    2Lysosome
    		Lysosome1.00
    3MHC class II antigen presentation
    		MHC class II antigen presentation1.00

    Pathway sources
    See GeneCards unified pathways
    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
    CTSL1P077113, 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



    Drugs & Compounds
    for CTSC gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    1 HMDB Compound for CTSC    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    10/18 Novoseek 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 

    Transcripts
    for CTSC gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
    10 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 ENST00000320621 ENST00000534131

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CTSC (see all 7)
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    Clone
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    Additional cDNA 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):

    CA306057 AW510462 CA308330 AI191358 AI016723 BM838492 CR616799 NM_001814 
    CR594896 BM766067 CD742722 BX445345 BF435253 AA298576 AW768467 AI347884 
    BM974453 BX397572 CA306700 BU739248 BX358376 BM823179 CR612501 BI093381 

    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

    Expression
    for CTSC gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTATATTTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CTSC expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobulePeriportal HepatocytesLiver
    OvaryAntral FollicleMature Granulosa CellsOvary
    BoneZeugopod PeriosteumBone
    HeartRight VentricleHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    Definitive endoderm-like cells (A scalable, suspensi...)

    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

    Primer
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    Orthologs
    for CTSC gene

    (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 chordates.

    Orthologs for CTSC gene from 4/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 70(a)
    		 1 ↔ 1
    		 3(199471578-199506476)
    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 


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

    Paralogs
    for CTSC gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CTSC gene
    TINAG2  CTSL12  CTSF2  CTSO2  CTSW2  CTSK2  CTSB2  CTSS2  
    CTSL22  CTSH2  TINAGL12  CTSZ2  

    CTSC for paralogs           About GeneDecksing



    Genomic Variants
    for CTSC gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/867 NCBI SNPs in CTSC are shown (see all 867)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048942101,2
    		Cpathogenic87198934(-) CACCTC/GGGTCT 6 S W mis10--------
    rs1048942161,2
    		Cpathogenic87224004(-) GGTGCA/CTGATG 2 H P mis10--------
    rs1048942061,2
    		Cpathogenic87227323(-) ACAGTC/TGAAAA 2 R * stg10--------
    rs1048942071,2
    		Cpathogenic87235965(-) AAACCA/TAGGTA 2 Q L mis10--------
    rs1048942091,2
    		Cpathogenic87240331(-) GCCCTC/TAGGAG 2 Q * stg10--------
    rs1048942081,2
    		Cpathogenic87240332(-) CCCTCA/GGGAGG 2 Q R mis10--------
    rs1048942141,2
    		Cpathogenic87242000(-) AAGGCA/GGCTTC 2 S G mis10--------
    rs1048942111,2
    		Cpathogenic87242139(-) CCACTA/GTGTAG 2 Y C mis10--------
    rs289375711,2
    		Cpathogenic87242334(-) GGGCTA/GTGGCA 2 Y C mis1 ese31Minor allele frequency- G:0.00NA 2
    rs1048942151,2
    		Cpathogenic87242386(-) AGCTGC/GGGCAC 2 C W mis10--------

    HapMap Linkage Disequilibrium report for CTSC (88026760 - 88070955 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CTSC: --
    Human Gene Mutation Database (HGMD): CTSC

    Locus Specific Mutation Databases (LSDB): CTSC

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for CTSC gene

    (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.)
    About This Section
    CTSC for disorders           About GeneDecksing

    OMIM gene information: 602365   
    OMIM disorders: 245000  245010  170650  
    UniProtKB/Swiss-Prot: CATC_HUMAN, P53634
  • Defects in CTSC are a cause of Papillon-Lefevre syndrome (PLS) [MIM:245000]; also known as keratosis
    • palmoplantaris with periodontopathia. PLS is 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
  • Defects in CTSC are a cause of Haim-Munk syndrome (HMS) [MIM:245010]; also known as keratosis palmoplantaris
    • with periodontopathia and onychogryposis or Cochin Jewish disorder. HMS is an autosomal recessive disorder
    characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus,
    arachnodactyly, and acroosteolysis
  • Defects in CTSC are a cause of aggressive periodontititis type 1 (AP1) [MIM:170650]; also known as juvenile
    • periodontitis (JPD) and prepubertal periodontitis (PPP). AP1 is characterized by severe and protracted gingival
    infections, leading to tooth loss. AP1 inheritance is autosomal dominant

    20/36 diseases for CTSC (see all 36):    About MalaCards
    palmoplantar keratosis    haim-munk syndrome    periodontitis    keratosis
    papillon-lefevre disease    oculocutaneous albinism type 1    oculocutaneous albinism    gestational trophoblastic neoplasm
    pleural empyema    paratyphoid fever    trophoblastic neoplasm    keratoderma
    hypermobility syndrome    albinism    aggressive periodontitis    protein s deficiency
    basal cell carcinoma    intrahepatic cholangiocarcinoma    periodontal disease    hypotrichosis

    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

    10/13 Novoseek 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

    Publications
    for CTSC gene

    (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 176):
    (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. 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)
    9. Oligomeric structure and substrate induced inhibition of human cathepsin C. (PubMed id 7665576)1, 2, 9 Dolenc I.... Turk V. (1995)
    10. Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. (PubMed id 10662807)1, 2, 9 Hart T.C.... Soskolne W.A. (2000)

    External Searches for CTSC gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CTSC gene

    (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

    Other Databases showing CTSC gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CTSC gene

    (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/

    Intellectual Property
    for CTSC gene

    (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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