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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]
CTSK (Cathepsin K) is a Protein Coding gene. Diseases associated with CTSK include Pycnodysostosis and Periodontitis. Among its related pathways are Lysosome and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and collagen binding. An important paralog of this gene is CTSS.
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).
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:0008233 | peptidase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA,IDA | 11082042 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005764 | lysosome | IBA,IDA | 11082042 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Degradation of the extracellular matrix | ||
2 | Innate Immune System |
.61
|
|
3 | Activated TLR4 signalling | ||
4 | Apoptosis Modulation and Signaling |
.31
|
|
5 | Lysosome |
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000422 | autophagy of mitochondrion | HMP | 24912190 |
GO:0001957 | intramembranous ossification | IEA | -- |
GO:0002224 | toll-like receptor signaling pathway | TAS | -- |
GO:0006508 | proteolysis | IEA,TAS | 7818555 |
GO:0006590 | thyroid hormone generation | IEA,IDA | 11082042 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
(1R,2R)-N-(2-Aminoethyl)-2-{[(4-methoxyphenyl)sulfonyl]methyl}cyclohexanecarboxamide | Experimental | Pharma | Target | 0 | ||
(2R)-2-(3-Biphenylyl)-N-{(2R)-2-hydroxy-3-[(2-pyridinylsulfonyl)amino]propyl}-4-methylpentanamide | Experimental | Pharma | Target | 0 | ||
(2R)-3-Methyl-1-phenyl-2-butanyl [(2S)-1-oxo-2-hexanyl]carbamate | 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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
N-Acetyl-L-leucyl-L-leucyl-L-methional |
|
136632-32-1 |
|
|
Compound | Action | Cas Number |
---|---|---|
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 |
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 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CTSK 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CTSK 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CTSK 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ctsk 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ctsk 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CTSK 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CTSK 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CTSK 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CTSK 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ctsk 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ctsk 30 31 |
|
OneToOne | |
wufb08b05 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cp1 32 |
|
|
|
26-29kD-proteinase 32 |
|
|
|||
CG4847 32 |
|
|
|||
CG11459 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | cpl-1 32 |
|
|
|
R07E3.1 32 |
|
|
|||
R09F10.1 32 |
|
|
|||
Rice (Oryza sativa) |
Liliopsida | Os11g0255300 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
642214 | Uncertain Significance: not provided | 150,799,225(-) | A/T | MISSENSE_VARIANT | |
649051 | Pathogenic: not provided | 150,796,836(-) | C/T | MISSENSE_VARIANT | |
664665 | Uncertain Significance: not provided | 150,804,136(-) | A/G | MISSENSE_VARIANT | |
684727 | Conflicting Interpretations: Abnormality of the fontanelles or cranial sutures; Macrocephalus; Delayed cranial suture closure; Dental crowding; Periodontitis; Abnormality of the skull; Delayed closure of the anterior fontanelle; Nail dysplasia; Scoliosis; Skeletal dysplasia; Increased susceptibility to fractures; Thoracic scoliosis; Short stature; Obtuse angle of mandible; Hypoplasia of dental enamel; Short finger; Short phalanx of finger; Midface retrusion | 150,796,884(-) | C/T | NONSENSE | |
712808 | Likely Benign: not provided | 150,799,242(-) | A/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
pycnodysostosis |
|
|
periodontitis |
|
|
bone giant cell tumor |
|
|
bone disease |
|
|
endosteal hyperostosis, autosomal dominant |
|