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Aliases for CTSK Gene

Aliases for CTSK Gene

  • Cathepsin K 2 3
  • Cathepsin O2 3 4
  • EC 3.4.22.38 4 64
  • Cathepsin X 3 4
  • Cathepsin O 3 4
  • CTSO2 3 4
  • CTSO 3 4
  • Cathepsin K (Pycnodysostosis) 2
  • Cathepsin O1 3
  • EC 3.4.22 64
  • CTSO1 3
  • CTS02 3
  • PKND 3
  • PYCD 3

External Ids for CTSK Gene

Previous Symbols for CTSK Gene

  • CTSO2
  • CTSO
  • PYCD

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 osteomyelitis. Among its related pathways are Class I MHC mediated antigen processing and presentation and Degradation of the extracellular matrix. GO annotations related to this gene include cysteine-type peptidase activity and cysteine-type endopeptidase activity. 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). 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 Gene

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

Genomics for CTSK Gene

Genomic Location for CTSK Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CTSK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSK Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn103

Other Protein References for CTSK Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CTSK Gene

Gene Families for CTSK Gene

HGNC:
  • CTS :Cathepsins

UniProtKB/Swiss-Prot:

CATK_HUMAN
Family:
  • Belongs to the peptidase C1 family.:
    • P43235
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 22952693
GO:0005515 protein binding IPI 12504904
GO:0005518 collagen binding IDA 22952693
GO:0008234 cysteine-type peptidase activity TAS 7818555
genes like me logo Genes that share ontologies with CTSK: view
genes like me logo Genes that share phenotypes with CTSK: view

Animal Models for CTSK Gene

MGI Knock Outs for CTSK:

miRNA for CTSK Gene

miRTarBase miRNAs that target CTSK

No data available for Transcription Factor Targeting 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
lysosome 5
vacuole 5
endosome 4
extracellular 4
cytoskeleton 2
nucleus 2
plasma membrane 2

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 --
GO:0005764 lysosome --
GO:0036021 endolysosome lumen TAS --
genes like me logo Genes that share ontologies with CTSK: view

Pathways 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 TAS 7818555
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with CTSK: view

Compounds for CTSK Gene

(12) ApexBio Compounds for CTSK Gene

Compound Action Cas Number
CA 074 Inhibitor of cathepsin B. [134448-10-5]
CA-074 Me irreversible inhibitor of intracellular cathepsin B. [147859-80-1]
Calpeptin Potent cathepsin L inhibitor [117591-20-5]
Cathepsin G Inhibitor I potent, selective, reversible, competitive, non-peptide inhibitor of cathepsin G. [429676-93-7]
Cathepsin S inhibitor A slow, tight-binding reversible inhibitor of recombinant cathepsin S. [1373215-15-6]
E 64d thiol protease inhibitor1 [88321-09-9]
E-64 Irriversible cysteine protease inhibitor [66701-25-5]
E-64-c inhibits cathepsin B, cathepsin H, and cathepsin L [76684-89-4]
L 006235 Potent, reversible cathepsin K inhibitor. [294623-49-7]
MDL 28170 Potent, selective inhibitor of calpain and cathepsin B. [88191-84-8]
Odanacatib (MK-0822) inhibitor of cathepsin K. [603139-19-1]
SID 26681509 Potent and reversible human cathepsin L inhibitor. [958772-66-2]

(5) Tocris Compounds for CTSK Gene

Compound Action Cas Number
Calpeptin Calpain and cathepsin L inhibitor [117591-20-5]
E 64d Cathepsin inhibitor; interferes with autolysosomal digestion [88321-09-9]
L 006235 Potent cathepsin K inhibitor [294623-49-7]
N-Acetyl-L-leucyl-L-leucyl-L-methional Cathepsin inhibitor [136632-32-1]
SID 26681509 Cathepsin L inhibitor [958772-66-2]

(32) Novoseek inferred chemical compound relationships for CTSK Gene

Compound -log(P) Hits PubMed IDs
cysteine 83 110
trifluoroethylamine 73.6 1
scca1 63.2 3
zoledronic acid 60.4 3
n-(2-hydroxypropyl)methacrylamide 56.6 4
genes like me logo Genes that share compounds with CTSK: view

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 (5.7) and Cervix - Endocervix (4.7).

Integrated Proteomics: protein expression 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 expressions with CTSK: view

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
  • 99.59 (n)
  • 98.78 (a)
CTSK 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTSK 36
  • 93.41 (n)
  • 95.74 (a)
CTSK 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTSK 36
  • 93.31 (n)
  • 95.44 (a)
CTSK 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctsk 36
  • 87.13 (n)
  • 86.02 (a)
Ctsk 16
Ctsk 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CTSK 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTSK 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctsk 36
  • 87.54 (n)
  • 87.54 (a)
chicken
(Gallus gallus)
Aves CTSK 36
  • 66.56 (n)
  • 72.36 (a)
CTSK 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTSK 37
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctsk 36
  • 68.42 (n)
  • 70.59 (a)
zebrafish
(Danio rerio)
Actinopterygii ctsk 36
  • 65.58 (n)
  • 65.36 (a)
ctsk 37
  • 60 (a)
OneToOne
wufb08b05 36
fruit fly
(Drosophila melanogaster)
Insecta Cp1 38
  • 47 (a)
26-29kD-proteinase 38
  • 39 (a)
CG11459 38
  • 35 (a)
CG4847 38
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea R07E3.1 38
  • 37 (a)
R09F10.1 38
  • 32 (a)
cpl-1 38
  • 46 (a)
rice
(Oryza sativa)
Liliopsida Os11g0255300 36
  • 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

Selected 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 MAF
rs11958 -- 150,796,282(-) GTCTT(A/C)CCTTC utr-variant-3-prime
rs1063586 -- 150,796,668(-) TCAGT(A/T)TCCCC utr-variant-3-prime
rs1241367 -- 150,805,445(+) gacca(G/T)cctgg intron-variant
rs1272967 -- 150,805,484(+) aaata(C/G)aaaaa intron-variant
rs1802666 -- 150,796,356(-) GTTTT(A/C)TACTC utr-variant-3-prime

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

Relevant External Links for CTSK Gene

HapMap Linkage Disequilibrium report
CTSK
Human Gene Mutation Database (HGMD)
CTSK
Locus Specific Mutation Databases (LSDB)
CTSK

Disorders for CTSK Gene

(1) OMIM Diseases for CTSK Gene (601105)

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:8703060, ECO:0000269 PubMed:9529353}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(43) Novoseek inferred disease relationships for CTSK Gene

Disease -log(P) Hits PubMed IDs
pycnodysostosis 94.3 41
k deficiency 79.8 12
osteoporosis 74.4 44
osteopetrosis 72 8
bone destruction 70.1 7

Relevant External Links for CTSK

Genetic Association Database (GAD)
CTSK
Human Genome Epidemiology (HuGE) Navigator
CTSK
genes like me logo Genes that share disorders with CTSK: view

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
  2. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. (PMID: 8703060) Gelb B.D. … Desnick R.J. (Science 1996) 3 4 23
  3. 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 23
  4. The crystal structure of human procathepsin K. (PMID: 9893980) LaLonde J.M. … Smith W.W. (Biochemistry 1999) 3 4 23
  5. Crystal structure of wild-type human procathepsin K. (PMID: 10048321) Sivaraman J. … Cygler M. (Protein Sci. 1999) 3 4 23

Products for CTSK Gene

Sources for CTSK Gene

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