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CTSK Gene

protein-coding   GIFtS: 72
GCID: GC01M150768

Cathepsin K

(Previous name: cathepsin K (pycnodysostosis))
(Previous symbols: CTSO2, CTSO, PYCD)
  See CTSK-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 K1 2     EC 3.4.22.383 8
CTSO1 2 3     Cathepsin K (Pycnodysostosis)1
CTSO21 2 3     CTS022
PYCD1 2     CTSO12
Cathepsin O2 3     PKND2
Cathepsin O22 3     Cathepsin O12
Cathepsin X2 3     EC 3.4.228

External Ids:    HGNC: 25361   Entrez Gene: 15132   Ensembl: ENSG000001433877   OMIM: 6011055   UniProtKB: P432353   

Export aliases for CTSK gene to outside databases

Previous GC identifers: GC01M148610 GC01M146515 GC01M147543 GC01M147985 GC01M147581 GC01M149035 GC01M122146


(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 CTSK Gene:
The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption.
This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts.
However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could
contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive
disease characterized by osteosclerosis and short stature. (provided by RefSeq, Apr 2013)

GeneCards Summary for CTSK Gene:
CTSK (cathepsin K) is a protein-coding gene. Diseases associated with CTSK include pycnodysostosis, and osteomyelitis. GO annotations related to this gene include cysteine-type endopeptidase activity and cysteine-type peptidase activity. An important paralog of this gene is CTSF.

UniProtKB/Swiss-Prot: CATK_HUMAN, P43235
Function: Closely involved in osteoclastic bone resorption and may participate partially in the disorder of bone
remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in
extracellular matrix degradation

summary for CTSK Gene:
Cathepsins are a group of lysosomal proteases that have a key role in cellular protein turnover. The term
cathepsin includes serine proteases (cathepsins A and G), aspartic proteases (cathepsin D and E) as well as
the cysteine proteases (cathepsins B, C, F, H, K, L, O, S, W and Z). Most cathepsins are endopeptidases,
with the exception of cathepsin C and Z. Cathepsins are synthesized as inactive proenzymes, glycosylated
post-translationally, and directed towards the lysosomal compartment by cellular mannose-6-phosphate
receptors. Their activity is regulated by several mechanisms including regulation of synthesis, zymogen
processing, inhibition by endogenous inhibitors (e.g. stefins and cystatins for cysteine cathepsins) and pH.
The main function of cathepsins is protein recycling within the lysosome but they are also known to be
involved in a range of other physiological, as well as pathological processes, including maturation of the
MHC class II complex, bone remodeling, keratinocyte differentiation, tumor progression and metastasis,
rheumatoid arthritis, osteoarthritis and atherosclerosis.

Gene Wiki entry for CTSK (Cathepsin K) 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_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CTSK gene promoter:
         Nkx3-1   Pax-5   AP-1   ATF-2   Nkx3-1 v1   GATA-1   Nkx3-1 v2   Nkx3-1 v3   c-Jun   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTSK promoter sequence
   Search Chromatin IP Primers for CTSK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CTSK


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

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M150768:  view genomic region     (about GC identifiers)

Start:
150,768,684 bp from pter      End:
150,780,917 bp from pter
Size:
12,234 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: CATK_HUMAN, P43235 (See protein sequence)
Recommended Name: Cathepsin K precursor  
Size: 329 amino acids; 36966 Da
Selected PDB 3D structures from and Proteopedia for CTSK (see all 40):
1ATK (3D)        1AU0 (3D)        1AU2 (3D)        1AU3 (3D)        1AU4 (3D)        1AYU (3D)    
Secondary accessions: Q6FHS6

Explore the universe of human proteins at neXtProt for CTSK: NX_P43235

Explore proteomics data for CTSK at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn103
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CTSK (P43235) (see all 21)
     PVSVAID  WELWKKT  LSPQNLV  QGQCGSC 


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

    REFSEQ proteins: NP_000387.1  
    ENSEMBL proteins: 
     ENSP00000271651   ENSP00000405083  
    Reactome Protein details: P43235

    CTSK Human Recombinant Protein Products:

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    Novus Biologicals CTSK Proteins
    Novus Biologicals CTSK Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CTSK

     
    Search eBioscience for Proteins for CTSK 

     
    antibodies-online proteins for CTSK (22 products) 

     
    antibodies-online peptides for CTSK

    CTSK Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CTSK
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    antibodies-online antibodies for CTSK (87 products) 

    CTSK Assay Products:

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    Enzo Life Sciences assays for CTSK
    Cloud-Clone Corp. ELISAs for CTSK
    Cloud-Clone Corp. CLIAs for CTSK
    Search eBioscience for ELISAs for CTSK 
    antibodies-online kits for CTSK (52 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 7):
     IPR013128 Peptidase_C1A
     IPR025661 Pept_asp_AS
     IPR015644 Peptidase_C1A_cathepsin-K
     IPR000169 Pept_cys_AS
     IPR013201 Prot_inhib_I29

    Graphical View of Domain Structure for InterPro Entry P43235

    ProtoNet protein and cluster: P43235

    2 Blocks protein domains:
    IPB000668 Papain cysteine protease (C1) family signature
    IPB013201 Proteinase inhibitor I29


    UniProtKB/Swiss-Prot: CATK_HUMAN, P43235
    Similarity: Belongs to the peptidase C1 family


    Find genes that share domains with CTSK           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: CATK_HUMAN, P43235
    Function: Closely involved in osteoclastic bone resorption and may participate partially in the disorder of bone
    remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in
    extracellular matrix degradation
    Catalytic activity: Broad proteolytic activity. With small-molecule substrates and inhibitors, the major
    determinant of specificity is P2, which is preferably Leu, Met > Phe, and not Arg

         Genatlas biochemistry entry for CTSK:
    cathepsin K,lysosomal P cysteine proteinase,expressed in osteoclats and multinucleated and chondroclasts at the
    osteochondral junction and the surfaces bone spicules,likely major protein in bone matrix resorption

         Enzyme Numbers (IUBMB): EC 3.4.22.381 2 EC 3.4.222

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001968fibronectin binding IPI--
    GO:0004197cysteine-type endopeptidase activity IDA--
    GO:0005518collagen binding IDA--
    GO:0008234cysteine-type peptidase activity TAS7818555
    GO:0043394proteoglycan binding IPI--
         
    Find genes that share ontologies with CTSK           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CTSK:
     Increased cell number in G1, a 

         11 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Ctsk):
     cellular  craniofacial  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  limbs/digits/tail  other  respiratory system 
     skeleton 

    Find genes that share phenotypes with CTSK           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CTSK: Ctsktm1Vuo Ctsktm1Ypl Ctsktm1Psa Ctsktm1Mbs

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

    miRNA
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    miRTarBase miRNAs that target CTSK:
    hsa-mir-296-3p (MIRT038461)

    Block miRNA regulation of human, mouse, rat CTSK using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate CTSK:
    hsa-miR-96* hsa-miR-9* hsa-miR-185 hsa-miR-4306 hsa-miR-767-5p hsa-miR-3652
    SwitchGear 3'UTR luciferase reporter plasmidCTSK 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat CTSK

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CTSK (NM_000396)
    Sino Biological Human cDNA Clone for CTSK
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTSK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSK

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


    (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
    CATK_HUMAN, P43235: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    endosome4
    extracellular4
    cytoskeleton2
    nucleus2
    plasma membrane2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm ----
    GO:0005764lysosome ----
    GO:0036021endolysosome lumen TAS--

    Find genes that share ontologies with CTSK           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 CTSK About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    Collagen degradation0.43
    2Toll-like receptor signaling pathway
    Toll-like receptor signaling pathway0.94
    3Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    4Matrix Metalloproteinases
    Activation of Matrix Metalloproteinases0.37
    5RANK Signaling in Osteoclasts
    RANKL/RANK Signaling Pathway0.31


    Find genes that share SuperPaths with CTSK           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for CTSK
        RANKL/RANK Signaling Pathway
    Osteoclast Signaling


    5 Reactome Pathways for CTSK
        Trafficking and processing of endosomal TLR
    Degradation of the extracellular matrix
    Collagen degradation
    Activation of Matrix Metalloproteinases
    MHC class II antigen presentation


    4 Kegg Pathways  (Kegg details for CTSK):
        Lysosome
    Osteoclast differentiation
    Toll-like receptor signaling pathway
    Rheumatoid arthritis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CTSK (see all 6): 
              Osteogenesis in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Wound Healing in human mouse rat
              Tumor Metastasis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CTSK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CTSK (P432353 ENSP000002716514) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERPINB3P295083, ENSP000002837524I2D: score=2 STRING: ENSP00000283752
    SPARCP094863, ENSP000002310614I2D: score=2 STRING: ENSP00000231061
    SLC17A6Q9P2U83, ENSP000002631604I2D: score=1 STRING: ENSP00000263160
    KNG1P010423, ENSP000002650234I2D: score=1 STRING: ENSP00000265023
    SERPINB13Q9UIV83, ENSP000003415844I2D: score=1 STRING: ENSP00000341584
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    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001957intramembranous ossification IEA--
    GO:0002224toll-like receptor signaling pathway TAS--
    GO:0006508proteolysis TAS7818555
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--

    Find genes that share ontologies with CTSK           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
    Selected ApexBio Compounds for CTSK (see all 12)     About this table
    CompoundAction CAS #
    CA 074Inhibitor of cathepsin B[134448-10-5]
    CA-074 Meirreversible inhibitor of intracellular cathepsin B[147859-80-1]
    CalpeptinPotent cathepsin L inhibitor[117591-20-5]
    Cathepsin G Inhibitor Ipotent, selective, reversible, competitive, non-peptide inhibitor of cathepsin G[429676-93-7]
    Cathepsin S inhibitorA slow, tight-binding reversible inhibitor of recombinant cathepsin S[1373215-15-6]
    E 64dthiol protease inhibitor1[88321-09-9]
    E-64Irriversible cysteine protease inhibitor[66701-25-5]
    E-64-cinhibits cathepsin B, cathepsin H, and cathepsin L[76684-89-4]
    L 006235Potent, reversible cathepsin K inhibitor[294623-49-7]
    MDL 28170Potent, selective inhibitor of calpain and cathepsin B[88191-84-8]

    Compounds for CTSK available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CalpeptinCalpain and cathepsin L inhibitor[117591-20-5]
    N-Acetyl-L-leucyl-L-leucyl-L-methionalCathepsin inhibitor[136632-32-1]
    E 64dCathepsin inhibitor; interferes with autolysosomal digestion[88321-09-9]
    L 006235Potent cathepsin K inhibitor[294623-49-7]
    SID 26681509Cathepsin L inhibitor[958772-66-2]

    Selected DrugBank Compounds for CTSK (see all 17)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1,5-Bis(N-Benzyloxycarbonyl-L-Leucinyl)Carbohydrazide-- --target--17139284 17016423 10592235
    1-[2-(3-Biphenyl)-4-Methylvaleryl)]Amino-3-(2-Pyridylsulfonyl)Amino-2-Propanone-- --target--17139284 17016423 10592235
    1-[N[(Phenylmethoxy)Carbonyl]-L-Leucyl-4-[[N/N-[(Phenylmethoxy)Carbonyl]-/Nl-Leucyl]Amino]-3-Pyrrolidinone/N-- --target--17139284 17016423 10592235
    Benzofuran-2-Carboxylic Acid {(S)-3-Methyl-1-[3-Oxo-1-(Pyridin-2-Ylsulfonyl)Azepan-4-Ylcarbamoyl]Butyl}Amide-- --target--17139284 17016423 10592235
    (1R)-2-METHYL-1-(PHENYLMETHYL)PROPYL[(1S)-1-FORMYLPENTYL]CARBAMATE-- --target--10592235
    (1R,2R)-N-(2-AMINOETHYL)-2-{[(4-METHOXYPHENYL)SULFONYL]METHYL}CYCLOHEXANECARBOXAMIDE-- --target--10592235
    1-(PHENYLMETHYL)CYCLOPENTYL[(1S)-1-FORMYLPENTYL]CARBAMATE-- --target--10592235
    1-{7-cyclohexyl-6-[4-(4-methylpiperazin-1-yl)benzyl]-7H-pyrrolo[2,3-d]pyrimidin-2-yl}methanamine-- --target--10592235
    3-Amino-5-Phenylpentane-- --target--10592235
    6-(CYCLOHEXYLAMINO)-9-[2-(4-METHYLPIPERAZIN-1-YL)-ETHYL]-9H-PURINE-2-CARBONITRILE-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for CTSK gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 83 138 9143502 (3), 8567669 (2), 15906014 (2), 7818555 (2) (see all 99)
    trifluoroethylamine 73.6 1 16921579 (1)
    scca1 63.2 3 9548757 (1), 14630915 (1), 11863458 (1)
    zoledronic acid 60.4 5 12538482 (1), 18379023 (1), 17728092 (1)
    n-(2-hydroxypropyl)methacrylamide 56.6 6 17092842 (1), 19381291 (1), 17018400 (1), 18401866 (1)
    teriparatide 56.5 1 18310826 (1)
    strontium ranelate 55.7 1 18310826 (1)
    actinidin 54.9 1 10380357 (1)
    nitrile 46.4 8 19117756 (3), 17157022 (2), 17544269 (1), 12904076 (1) (see all 5)
    tartrate 45.5 5 20186669 (1), 19144471 (1)



    Find genes that share compounds with CTSK           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 CTSK gene: 
    NM_000396.3  

    Unigene Cluster for CTSK:

    Cathepsin K
    Hs.632466  [show with all ESTs]
    Unigene Representative Sequence: NM_000396
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000271651(uc001evp.2 uc009wma.2) ENST00000480670 ENST00000443913

    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate CTSK:
    hsa-miR-96* hsa-miR-9* hsa-miR-185 hsa-miR-4306 hsa-miR-767-5p hsa-miR-3652
    SwitchGear 3'UTR luciferase reporter plasmidCTSK 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: CTSK (NM_000396)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CTSK
      QuantiFast Probe-based Assays in human, mouse, rat CTSK

    Additional mRNA sequence: 

    AK130134.1 AK312880.1 AY429530.1 BC016058.1 CR541675.1 CR541719.1 S79895.1 U13665.1 
    U20280.1 

    16 DOTS entries:

    DT.100789242  DT.446983  DT.40248783  DT.100789233  DT.121411815  DT.100789245  DT.95370668  DT.95370669 
    DT.121411805  DT.121411818  DT.121411824  DT.121411826  DT.91750964  DT.91750980  DT.92042269  DT.121411810 

    Selected AceView cDNA sequences (see all 688):

    NM_000396 AW149301 CR612623 BU754539 AI372902 BU948385 BX483852 AI637657 
    BM698970 BP375309 BM725764 AA588426 BF739840 AI683372 CB215376 BU174785 
    AI299730 CA441899 CR606929 AW577517 AI635280 BI010164 BQ548724 BU617903 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CTSK (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for CTSK

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


    CTSK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Fibroblasts
             Detroit 551
             Human Dermal Fibroblasts-adult (HDF-a)   
     
     Dermis (Integumentary System)    fully expand to see all 4 entries
             Human Dermal Fibroblasts-adult (HDF-a)   
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Endothelial Cells Blood Brain Barrier
             Thalamus
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Osteoclasts Bone Marrow
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
    CTSK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTSK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632466

    UniProtKB/Swiss-Prot: CATK_HUMAN, P43235
    Tissue specificity: Predominantly expressed in osteoclasts (bones)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CTSK (see all 6): 
              Osteogenesis in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Wound Healing in human mouse rat
              Tumor Metastasis 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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CTSK gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctsk1 , 5 cathepsin K1, 5 87.13(n)1
    86.02(a)1
      3 (40.74 cM)5
    130381  NM_007802.41  NP_031828.21 
     954992865 
    chicken
    (Gallus gallus)
    Aves CTSK1 cathepsin K 66.56(n)
    72.36(a)
      395818  NM_204971.1  NP_990302.1 
    lizard
    (Anolis carolinensis)
    Reptilia CTSK6
    cathepsin K
    85(a)
    1 ↔ 1
    GL343862.1(1552-9064)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ctsk1 cathepsin K 68.42(n)
    70.59(a)
      779889  NM_001078967.1  NP_001072435.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb08b052 Transcribed sequence with weak similarity to protein more 72.85(n)    57037394 
    rice
    (Oryza sativa)
    Liliopsida Os11g02553001 Os11g0255300 50.8(n)
    44.73(a)
      4350216  NM_001074162.1  NP_001067630.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CTSK gene
    CTSF2  CTSO2  CTSW2  CTSV2  CTSS2  CTSH2  CTSC2  CTSZ2  
    CTSL2  
    8 SIMAP similar genes for CTSK using alignment to 5 protein entries:     CATK_HUMAN (see all proteins):
    CTSS    DKFZp686B24257    CTSL    CTSL1    CTSV    CTSH
    CTSO    CTSF

    Find genes that share paralogs with CTSK           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 CTSK (see all 349)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs290016851,2,,4
    CPycnodysostosis (PKND)4 pathogenic1157270953(-) TATCCC/TCATGG 2 P L mis10--------
    VAR_0157394
    Pycnodysostosis (PKND)4--see VAR_0157392 A V mis40--------
    VAR_0157384
    Pycnodysostosis (PKND)4--see VAR_0157382 G E mis40--------
    VAR_0067254
    Pycnodysostosis (PKND)4--see VAR_0067252 G R mis40--------
    rs743153011,2
    Cpathogenic1157270889(-) ATGTGA/GCTCCA 2 * W --0--------
    rs743153041,2
    Cpathogenic1157273318(-) CCATGC/TGGTTT 2 A V mis10--------
    rs743153031,2
    Cpathogenic1157273697(-) TGGCCA/C/TGAGTG 2 R * stg11NA 4552
    rs743153021,2
    Cpathogenic1157278293(-) CTGTGC/GGTGCC 2 R G mis10--------
    rs743153051,2
    Cpathogenic1157280199(-) CCTGGA/GGGACA 2 E G mis10--------
    rs743153061,2
    Cpathogenic1157280281(-) GGGAAA/TAAAAC 2 K * stg10--------

    HapMap Linkage Disequilibrium report for CTSK (150768684 - 150780917 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CTSK:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2799CNV Insertion18451855
    nsv2788CNV Loss18451855
    nsv160180CNV Loss16902084
    nsv437169CNV Loss16327808
    nsv872418CNV Gain21882294

    Human Gene Mutation Database (HGMD): CTSK
    Locus Specific Mutation Databases (LSDB): CTSK

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CTSK
    DNA2.0 Custom Variant and Variant Library Synthesis for CTSK

    (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

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    OMIM gene information: 601105   
    OMIM disorders: 265800  
    UniProtKB/Swiss-Prot: CATK_HUMAN, P43235
  • Pycnodysostosis (PKND) [MIM:265800]: A rare autosomal recessive bone disorder characterized by deformity
    of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 13 diseases for CTSK:    
    About MalaCards
    pycnodysostosis    osteomyelitis    al amyloidosis    osteosclerosis
    root resorption    autosomal recessive disease    breast adenocarcinoma    osteoarthritis
    short stature    rheumatoid arthritis    atherosclerosis    osteoporosis
    arthritis

    6 diseases from the University of Copenhagen DISEASES database for CTSK:
    Pycnodysostosis     Osteoporosis     Osteopetrosis     Arthritis
    Root resorption     Giant cell tumor

    Find genes that share disorders with CTSK           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CTSK gene (see all 43)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pycnodysostosis 94.3 57 20305575 (4), 11331755 (3), 12874701 (3), 19674475 (3) (see all 26)
    k deficiency 79.8 12 12874701 (2), 17891524 (1), 10571690 (1), 18239112 (1) (see all 11)
    osteoporosis 74.4 46 19943223 (2), 15456248 (2), 16699068 (2), 16375747 (2) (see all 37)
    osteopetrosis 72 10 11331755 (2), 10491212 (1), 11699297 (1), 17210673 (1) (see all 7)
    bone destruction 70.1 8 18240253 (3), 12568399 (1), 17321485 (1), 15801030 (1) (see all 5)
    osteoclastoma 68.8 5 7576232 (3), 8647859 (1)
    osteolytic 65.3 5 12538482 (1), 15642144 (1), 17942921 (1), 18685424 (1) (see all 5)
    osteosclerosis 64.8 2 14753734 (1), 18302508 (1)
    osteolysis 63 8 15277232 (2), 17942921 (1), 17729302 (1), 18685424 (1) (see all 6)
    skeletal dysplasia 60.3 5 10571690 (1), 20305575 (1), 9529353 (1), 17397052 (1)

    Genetic Association Database (GAD): CTSK
    Human Genome Epidemiology (HuGE) Navigator: CTSK (9 documents)

    Export disorders for CTSK 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 CTSK gene, integrated from 10 sources (see all 437):
    (articles sorted by number of sources associating them with CTSK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of human cDNA for cathepsin K: novel cysteine proteinase predominantly expressed in bone. (PubMed id 7818555)1, 2, 3, 9 Inaoka T.... Kokubo T. (Biochem. Biophys. Res. Commun. 1995)
    2. Characterization of common genetic variants in cathepsin K and testing for association with bone mineral density in a large cohort of perimenopausal women from Scotland. (PubMed id 14753734)1, 4, 9 Giraudeau F.S....Wood J. (J. Bone Miner. Res. 2004)
    3. Human cathepsin O2, a novel cysteine protease highly expressed in osteoclastomas and ovary molecular cloning, sequencing and tissue distribution. (PubMed id 7576232)1, 2, 9 Broemme D. and Okamoto K. (Biol. Chem. Hoppe-Seyler 1995)
    4. The crystal structure of human procathepsin K. (PubMed id 9893980)1, 2, 9 LaLonde J.M.... Smith W.W. (Biochemistry 1999)
    5. Crystal structure of wild-type human procathepsin K. (PubMed id 10048321)1, 2, 9 Sivaraman J.... Cygler M. (Protein Sci. 1999)
    6. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. (PubMed id 9529353)1, 2, 9 Gelb B.D.... Desnick R.J. (Am. J. Hum. Genet. 1998)
    7. Design of potent and selective human cathepsin K inhibitors that span the active site. (PubMed id 9405598)1, 2, 9 Thompson S.K.... Veber D.F. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    8. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. (PubMed id 8703060)1, 2, 9 Gelb B.D.... Desnick R.J. (Science 1996)
    9. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &quot;hot-spot&quot;. (PubMed id 20628624)1, 4 Johnatty S.E.... . (PLoS Genet. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (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: 1513 HGNC: 2536 AceView: CTSKandARNT Ensembl:ENSG00000143387 euGenes: HUgn1513
    ECgene: CTSK Kegg: 1513 H-InvDB: CTSK

    (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 CTSK Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CTSK Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CTSK[genesymbol]

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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