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Aliases for CTSK Gene

Aliases for CTSK Gene

  • Cathepsin K 2 3 5
  • Cathepsin O2 3 4
  • EC 3.4.22.38 4 63
  • 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 63
  • 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 Degradation of the extracellular matrix and Immune System. GO annotations related to this gene include cysteine-type endopeptidase activity and collagen binding. An important paralog of this gene is CTSW.

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

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

ENSRs around CTSK on UCSC Golden Path with GeneCards custom track

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

Proteomics data for CTSK Gene at MOPED

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:0005518 collagen binding IDA 22952693
GO:0043394 proteoglycan binding IPI 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

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: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:0022617 extracellular matrix disassembly TAS --
GO:0045453 bone resorption IEA --
GO:0051603 proteolysis involved in cellular protein catabolic process IDA 22952693
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

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

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

(23) Additional Compounds for CTSK Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Calpeptin
117591-20-5
L 006235
294623-49-7
N-Acetyl-L-leucyl-L-leucyl-L-methional
136632-32-1
SID 26681509
958772-66-2
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:

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



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

Protein tissue co-expression partners for CTSK Gene

- Elite partner

Primer Products

In Situ Assay 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 36
  • 99 (a)
OneToOne
CTSK 35
  • 99.59 (n)
  • 98.78 (a)
cow
(Bos Taurus)
Mammalia CTSK 35
  • 93.41 (n)
  • 95.74 (a)
CTSK 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTSK 36
  • 94 (a)
OneToOne
CTSK 35
  • 93.31 (n)
  • 95.44 (a)
mouse
(Mus musculus)
Mammalia Ctsk 16
Ctsk 35
  • 87.13 (n)
  • 86.02 (a)
Ctsk 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CTSK 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTSK 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctsk 35
  • 87.54 (n)
  • 87.54 (a)
chicken
(Gallus gallus)
Aves CTSK 35
  • 66.56 (n)
  • 72.36 (a)
CTSK 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTSK 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctsk 35
  • 68.42 (n)
  • 70.59 (a)
zebrafish
(Danio rerio)
Actinopterygii ctsk 35
  • 65.58 (n)
  • 65.36 (a)
wufb08b05 35
ctsk 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta 26-29kD-proteinase 37
  • 39 (a)
CG11459 37
  • 35 (a)
CG4847 37
  • 39 (a)
Cp1 37
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea cpl-1 37
  • 46 (a)
R07E3.1 37
  • 37 (a)
R09F10.1 37
  • 32 (a)
rice
(Oryza sativa)
Liliopsida Os11g0255300 35
  • 50.8 (n)
  • 44.73 (a)
Species with no ortholog for CTSK:
  • 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
VAR_006725 Pycnodysostosis (PKND)
rs29001685 Pycnodysostosis (PKND) 150,796,863(-) TATCC(C/T)CATGG reference, missense
VAR_015738 Pycnodysostosis (PKND)
VAR_015739 Pycnodysostosis (PKND)
VAR_074023 Pycnodysostosis (PKND)

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

Variant ID Type Subtype PubMed ID
nsv872418 CNV Gain 21882294
nsv437169 CNV Loss 16327808
nsv2788 CNV Loss 18451855
nsv2799 CNV Insertion 18451855
nsv160180 CNV Loss 16902084

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

HapMap Linkage Disequilibrium report
CTSK
Human Gene Mutation Database (HGMD)
CTSK

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

Disorders for CTSK Gene

MalaCards: The human disease database

(23) 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
root resorption
ehlers-danlos syndrome, progeroid type, 2
  • ehlers-danlos syndrome, progeroid type 2
intermediate osteopetrosis
  • autosomal recessive intermediate osteopetrosis
- 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 23 67
  2. A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis. (PMID: 20305575) Khan B. … Ahmad W. (J. Investig. Med. 2010) 3 23
  3. Cathepsin K generates enkephalin from beta-endorphin: a new mechanism with possible relevance for schizophrenia. (PMID: 19428782) Lendeckel U. … Bernstein H.G. (Neurochem. Int. 2009) 3 23
  4. A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin. (PMID: 19674475) Naeem M. … Ahmad W. (BMC Med. Genet. 2009) 3 23
  5. Cathepsin-k as a diagnostic marker in the identification of micro-granulomas in Crohn's disease. (PMID: 19886543) Pedica F. … Chilosi M. (Pathologica 2009) 3 23

Products for CTSK Gene

Sources for CTSK Gene

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