Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CTSK Gene

Aliases for CTSK Gene

  • Cathepsin K 2 3 5
  • Cathepsin O2 3 4
  • EC 3.4.22.38 4 61
  • Cathepsin O 3 4
  • Cathepsin X 3 4
  • CTSO2 3 4
  • CTSO 3 4
  • Cathepsin K (Pycnodysostosis) 2
  • Cathepsin O1 3
  • EC 3.4.22 61
  • CTS02 3
  • CTSO1 3
  • PKND 3
  • PYCD 3

External Ids for CTSK Gene

Previous HGNC Symbols for CTSK Gene

  • CTSO2
  • CTSO
  • PYCD

Previous GeneCards Identifiers for CTSK Gene

  • GC01M148610
  • GC01M146515
  • GC01M147543
  • GC01M147985
  • GC01M147581
  • GC01M149035
  • GC01M122146

Summaries for CTSK Gene

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 Hyperostosis, Endosteal. Among its related pathways are Immune System and Matrix Metalloproteinases. GO annotations related to this gene include cysteine-type endopeptidase activity and collagen binding. An important paralog of this gene is CTSS.

UniProtKB/Swiss-Prot for CTSK Gene

  • 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.

Tocris 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).

Gene Wiki entry for CTSK Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTSK Gene

Genomics for CTSK Gene

Regulatory Elements for CTSK Gene

Enhancers for CTSK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F149883 0.4 ENCODE 29.1 +921.7 921739 5.9 CREB3L1 MLX ZFP64 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 PRPF3 SF3B4 UBE2D3P3 CTSK SV2A GOLPH3L HIST2H2AB ADAMTSL4 VPS45 APH1A
GH01F151068 0.8 ENCODE 28.5 -262.0 -262045 3.3 HDGF PKNOX1 ARNT CREB3L1 SIN3A FEZF1 ZNF2 YY1 ZNF416 ZNF143 GABPB2 MRPL9 SETDB1 PRPF3 UBE2D3P3 LYSMD1 CTSK GOLPH3L BNIPL RPS10P6
GH01F151280 0.2 ENCODE 23.5 -474.1 -474147 3.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 SETDB1 GOLPH3L GABPB2 MRPL9 CTSK PRPF3 UBE2D3P3 RPS10P6 ADAMTSL4 ENSG00000229021
GH01F150008 1.2 FANTOM5 ENCODE 22.4 +798.2 798233 2.9 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 SETDB1 PRPF3 UBE2D3P3 CTSK HIST2H2AB MTMR11 SF3B4 GOLPH3L ADAMTSL4 SV2A
GH01F150557 0.4 ENCODE 21.8 +239.1 239137 23.1 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC HORMAD1 SETDB1 GOLPH3L SF3B4 CTSK PRPF3 UBE2D3P3 CYCSP51 VPS45 GABPB2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CTSK on UCSC Golden Path with GeneCards custom track

Promoters for CTSK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000544813 641 1601

Genomic Location for CTSK Gene

Chromosome:
1
Start:
150,796,208 bp from pter
End:
150,808,441 bp from pter
Size:
12,234 bases
Orientation:
Minus strand

Genomic View for CTSK Gene

Genes around CTSK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTSK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTSK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSK Gene

Proteins for CTSK Gene

  • Protein details for CTSK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43235-CATK_HUMAN
    Recommended name:
    Cathepsin K
    Protein Accession:
    P43235
    Secondary Accessions:
    • Q6FHS6

    Protein attributes for CTSK Gene

    Size:
    329 amino acids
    Molecular mass:
    36966 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CTSK Gene

neXtProt entry for CTSK Gene

Post-translational modifications for CTSK Gene

  • Glycosylation at Asn 103
  • Modification sites at PhosphoSitePlus

Other Protein References for CTSK Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for CTSK Gene

Gene Families for CTSK Gene

Suggested Antigen Peptide Sequences for CTSK Gene

Graphical View of Domain Structure for InterPro Entry

P43235

UniProtKB/Swiss-Prot:

CATK_HUMAN :
  • Belongs to the peptidase C1 family.
Family:
  • Belongs to the peptidase C1 family.
genes like me logo Genes that share domains with CTSK: view

Function for CTSK Gene

Molecular function for CTSK Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for CTSK Gene

Gene Ontology (GO) - Molecular Function for CTSK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001968 fibronectin binding IPI 22952693
GO:0004197 cysteine-type endopeptidase activity IDA,TAS 22952693
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 12504904
GO:0005518 collagen binding IDA 22952693
genes like me logo Genes that share ontologies with CTSK: view
genes like me logo Genes that share phenotypes with CTSK: view

Human Phenotype Ontology for CTSK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTSK Gene

MGI Knock Outs for CTSK:

Animal Model Products

  • Taconic Biosciences Mouse Models for CTSK

miRNA for CTSK Gene

miRTarBase miRNAs that target CTSK

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CTSK Gene

Localization for CTSK Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSK Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CTSK Gene COMPARTMENTS Subcellular localization image for CTSK gene
Compartment Confidence
endosome 5
extracellular 5
lysosome 5
vacuole 5
cytoskeleton 2
nucleus 2
plasma membrane 2
cytosol 1

Gene Ontology (GO) - Cellular Components for CTSK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 22952693
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA,IBA --
GO:0036021 endolysosome lumen TAS --
genes like me logo Genes that share ontologies with CTSK: view

Pathways & Interactions for CTSK Gene

genes like me logo Genes that share pathways with CTSK: view

Gene Ontology (GO) - Biological Process for CTSK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001957 intramembranous ossification IEA --
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0006508 proteolysis IEA,TAS 7818555
GO:0022617 extracellular matrix disassembly TAS --
GO:0030574 collagen catabolic process TAS --
genes like me logo Genes that share ontologies with CTSK: view

No data available for SIGNOR curated interactions for CTSK Gene

Drugs & Compounds for CTSK Gene

(46) Drugs for CTSK Gene - From: DrugBank, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(1R)-2-METHYL-1-(PHENYLMETHYL)PROPYL[(1S)-1-FORMYLPENTYL]CARBAMATE Experimental Pharma Target 0
(1R,2R)-N-(2-AMINOETHYL)-2-{[(4-METHOXYPHENYL)SULFONYL]METHYL}CYCLOHEXANECARBOXAMIDE Experimental Pharma Target 0
[1-(4-Fluorobenzyl)Cyclobutyl]Methyl (1s)-1-[Oxo(1h-Pyrazol-5-Ylamino)Acetyl]Pentylcarbamate Experimental Pharma Target 0
1-(PHENYLMETHYL)CYCLOPENTYL[(1S)-1-FORMYLPENTYL]CARBAMATE Experimental Pharma Target 0
1,5-Bis(N-Benzyloxycarbonyl-L-Leucinyl)Carbohydrazide Experimental Pharma Target 0

(17) Additional Compounds for CTSK Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for CTSK Gene

Compound Action Cas Number
CA 074 Selective cathepsin B inhibitor 134448-10-5
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
E 64 Potent and irreversible cysteine protease inhibitor 66701-25-5
E 64d Cathepsin inhibitor; interferes with autolysosomal digestion 88321-09-9
L 006235 Potent cathepsin K inhibitor 294623-49-7

(7) ApexBio Compounds for CTSK Gene

Compound Action Cas Number
Balicatib Cathepsin K inhibitor 354813-19-7
Cathepsin Inhibitor 1 Cathepsin inhibitor 225120-65-0
E 64d Cysteine protease inhibitor 88321-09-9
E-64 Cysteine protease inhibitor,irriversible 66701-25-5
E-64-c Inhibitor of cysteine proteinases 76684-89-4
L 006235 Cathepsin K inhibitor 294623-49-7
Odanacatib (MK-0822) Cathepsin K,potent and selective 603139-19-1
genes like me logo Genes that share compounds with CTSK: view

Drug Products

Transcripts for CTSK Gene

mRNA/cDNA for CTSK Gene

Unigene Clusters for CTSK Gene

Cathepsin K:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTSK Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10
SP1: -
SP2: -
SP3: - - - -
SP4: -
SP5:
SP6: -

Relevant External Links for CTSK Gene

GeneLoc Exon Structure for
CTSK
ECgene alternative splicing isoforms for
CTSK

Expression for CTSK Gene

mRNA expression in normal human tissues for CTSK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTSK Gene

This gene is overexpressed in Cervix - Ectocervix (x5.7) and Cervix - Endocervix (x4.7).

Protein differential expression in normal tissues from HIPED for CTSK Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CTSK Gene



Protein tissue co-expression partners for CTSK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTSK Gene:

CTSK

SOURCE GeneReport for Unigene cluster for CTSK Gene:

Hs.632466

mRNA Expression by UniProt/SwissProt for CTSK Gene:

P43235-CATK_HUMAN
Tissue specificity: Predominantly expressed in osteoclasts (bones).
genes like me logo Genes that share expression patterns with CTSK: view

Primer Products

Orthologs for CTSK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTSK 34 35
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia CTSK 34 35
  • 93.41 (n)
dog
(Canis familiaris)
Mammalia CTSK 34 35
  • 93.31 (n)
rat
(Rattus norvegicus)
Mammalia Ctsk 34
  • 87.54 (n)
mouse
(Mus musculus)
Mammalia Ctsk 34 16 35
  • 87.13 (n)
oppossum
(Monodelphis domestica)
Mammalia CTSK 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTSK 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTSK 34 35
  • 66.56 (n)
lizard
(Anolis carolinensis)
Reptilia CTSK 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctsk 34
  • 68.42 (n)
zebrafish
(Danio rerio)
Actinopterygii ctsk 34 35
  • 65.58 (n)
wufb08b05 34
fruit fly
(Drosophila melanogaster)
Insecta Cp1 36
  • 47 (a)
26-29kD-proteinase 36
  • 39 (a)
CG4847 36
  • 39 (a)
CG11459 36
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea cpl-1 36
  • 46 (a)
R07E3.1 36
  • 37 (a)
R09F10.1 36
  • 32 (a)
rice
(Oryza sativa)
Liliopsida Os11g0255300 34
  • 50.8 (n)
Species where no ortholog for CTSK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTSK Gene

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

Paralogs for CTSK Gene

Paralogs for CTSK Gene

(8) SIMAP similar genes for CTSK Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CTSK: view

Variants for CTSK Gene

Sequence variations from dbSNP and Humsavar for CTSK Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs29001685 Pycnodysostosis (PKND) [MIM:265800], other 150,796,863(-) TATCC(C/T)CATGG reference, missense
rs74315302 Pycnodysostosis (PKND) [MIM:265800], Pathogenic 150,804,203(-) CTGTG(C/G)GTGCC reference, missense
rs74315304 Pycnodysostosis (PKND) [MIM:265800], other 150,799,228(-) CCATG(C/T)GGTTT reference, missense
rs74315305 Pycnodysostosis (PKND) [MIM:265800], Pathogenic 150,806,109(-) CCTGG(A/G)GGACA reference, missense
VAR_074023 Pycnodysostosis (PKND) [MIM:265800]

Structural Variations from Database of Genomic Variants (DGV) for CTSK Gene

Variant ID Type Subtype PubMed ID
nsv160180 CNV deletion 16902084
nsv2788 CNV deletion 18451855
nsv2799 CNV insertion 18451855
nsv437169 CNV loss 16327808

Variation tolerance for CTSK Gene

Residual Variation Intolerance Score: 40.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTSK Gene

Human Gene Mutation Database (HGMD)
CTSK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTSK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTSK Gene

Disorders for CTSK Gene

MalaCards: The human disease database

(21) MalaCards diseases for CTSK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pycnodysostosis
  • pknd
hyperostosis, endosteal
  • osteosclerosis
hypersensitivity pneumonitis, familial
  • bird fancier's lung
bone giant cell tumor
  • giant cell myeloma
root resorption
- elite association - COSMIC cancer census association via MalaCards
Search CTSK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CATK_HUMAN
  • Pycnodysostosis (PKND) [MIM:265800]: A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone. {ECO:0000269 PubMed:10491211, ECO:0000269 PubMed:10878663, ECO:0000269 PubMed:22822386, ECO:0000269 PubMed:25731711, ECO:0000269 PubMed:8703060, ECO:0000269 PubMed:9529353}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CTSK

Genetic Association Database (GAD)
CTSK
Human Genome Epidemiology (HuGE) Navigator
CTSK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTSK
genes like me logo Genes that share disorders with CTSK: view

No data available for Genatlas for CTSK Gene

Publications for CTSK Gene

  1. Molecular cloning of human cDNA for cathepsin K: novel cysteine proteinase predominantly expressed in bone. (PMID: 7818555) Inaoka T. … Kokubo T. (Biochem. Biophys. Res. Commun. 1995) 2 3 4 22 64
  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. (PMID: 14753734) Giraudeau F.S. … Wood J. (J. Bone Miner. Res. 2004) 3 22 46 64
  3. The crystal structure of human procathepsin K. (PMID: 9893980) LaLonde J.M. … Smith W.W. (Biochemistry 1999) 3 4 22 64
  4. Crystal structure of wild-type human procathepsin K. (PMID: 10048321) Sivaraman J. … Cygler M. (Protein Sci. 1999) 3 4 22 64
  5. Design of potent and selective human cathepsin K inhibitors that span the active site. (PMID: 9405598) Thompson S.K. … Veber D.F. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 22 64

Products for CTSK Gene

Sources for CTSK Gene

Content
Loading form....