• Gene id: 1513

Gene Summary

• Gene Symbol: CTSK   Gene   UCSC   Ensembl
• Aliases: CTS02, CTSO, CTSO1, CTSO2, PKND, PYCD
• Gene name: cathepsin K
• Alternate names: cathepsin K, cathepsin O, cathepsin O1, cathepsin O2, cathepsin X,
• Gene location: 1q21.3 (150808259: 150796207)     Exons: 8     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 601105

SNPs

rs2855658

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.38069747T>C
NC_000002.11   g.38296890T>C
NG_008386.2   g.11355A>G
NM_000104.3   c.*975A>G|SEQ=[T/C]|GENE=CYP1B1
RMDN2   151393

Protein Summary

• Protein general information: P43235  
  • Name: Cathepsin K (EC 3.4.22.38) (Cathepsin O) (Cathepsin O2) (Cathepsin X)
  • Length: 329  
  • Mass: 36966
  • Tissue specificity: Predominantly expressed in osteoclasts (bones) (PubMed
• Sequence:

  MWGLKVLLLPVVSFALYPEEILDTHWELWKKTHRKQYNNKVDEISRRLIWEKNLKYISIHNLEASLGVHTYELAM
  NHLGDMTSEEVVQKMTGLKVPLSHSRSNDTLYIPEWEGRAPDSVDYRKKGYVTPVKNQGQCGSCWAFSSVGALEG
  QLKKKTGKLLNLSPQNLVDCVSENDGCGGGYMTNAFQYVQKNRGIDSEDAYPYVGQEESCMYNPTGKAAKCRGYR
  EIPEGNEKALKRAVARVGPVSVAIDASLTSFQFYSKGVYYDESCNSDNLNHAVLAVGYGIQKGNKHWIIKNSWGE
  NWGNKGYILMARNKNNACGIANLASFPKM

• Structural information:
  • Interpro: IPR038765  IPR025661  IPR000169  IPR025660  IPR000668   IPR015644  IPR039417  IPR013201  
  • Prosite: PS00640 PS00139 PS00639
  • CDD: cd02248
  • PDB: 1ATK 1AU0 1AU2 1AU3 1AU4 1AYU 1AYV 1AYW 1BGO 1BY8 1MEM 1NL6 1NLJ 1Q6K 1SNK 1TU6 1U9V 1U9W 1U9X 1VSN 1YK7 1YK8 1YT7 2ATO 2AUX 2AUZ 2BDL 2R6N 3C9E 3H7D 3KW9 3KWB 3KWZ 3KX1 3O0U 3O1G 3OVZ 4DMX 4DMY 4N79 4N8W 4X6H 4X6I 4X6J 4YV8 4YVA 5J94 5JA7 5JH3 5TDI 5TUN 5Z5O 6ASH 6HGY 6QBS 7PCK
  • PDBsum: 1ATK 1AU0 1AU2 1AU3 1AU4 1AYU 1AYV 1AYW 1BGO 1BY8 1MEM 1NL6 1NLJ 1Q6K 1SNK 1TU6 1U9V 1U9W 1U9X 1VSN 1YK7 1YK8 1YT7 2ATO 2AUX 2AUZ 2BDL 2R6N 3C9E 3H7D 3KW9 3KWB 3KWZ 3KX1 3O0U 3O1G 3OVZ 4DMX 4DMY 4N79 4N8W 4X6H 4X6I 4X6J 4YV8 4YVA 5J94 5JA7 5JH3 5TDI 5TUN 5Z5O 6ASH 6HGY 6QBS 7PCK
  • DIP: 39993
  • STRING: ENSP00000271651
• Other Databases: GeneCards:  CTSK  Malacards:  CTSK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IDA	cellular component
GO:0000422	autophagy of mitochondrion	HMP	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005764	lysosome	IBA	cellular component
GO:0051603	proteolysis involved in cellular protein catabolic process	IBA	biological process
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0006955	immune response	IBA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0006508	proteolysis	TAS	biological process
GO:0030574	collagen catabolic process	IDA	biological process
GO:0008234	cysteine-type peptidase activity	IDA	molecular function
GO:0002224	toll-like receptor signaling pathway	TAS	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0036021	endolysosome lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0045616	regulation of keratinocyte differentiation	TAS	biological process
GO:0051603	proteolysis involved in cellular protein catabolic process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0001957	intramembranous ossification	IEA	biological process
GO:0061037	negative regulation of cartilage development	IEA	biological process
GO:0045453	bone resorption	IEA	biological process
GO:0030574	collagen catabolic process	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0006590	thyroid hormone generation	IEA	biological process
GO:0045453	bone resorption	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0005518	collagen binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0051603	proteolysis involved in cellular protein catabolic process	IDA	biological process
GO:0001968	fibronectin binding	IPI	molecular function
GO:0043394	proteoglycan binding	IPI	molecular function
GO:0030574	collagen catabolic process	IDA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0006590	thyroid hormone generation	IDA	biological process
GO:0051603	proteolysis involved in cellular protein catabolic process	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa04380	Osteoclast differentiation
hsa04210	Apoptosis
hsa04620	Toll-like receptor signaling pathway
hsa05323	Rheumatoid arthritis

Diseases

Associated diseases	References
Lysosomal cysteine protease deficiencies	KEGG:H00425
Pycnodysostosis	KEGG:H00273
Lysosomal cysteine protease deficiencies	KEGG:H00425
Pycnodysostosis	KEGG:H00273
Intracranial aneurysm	PMID:18635848
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray