• Gene id: 1075

Gene Summary

• Gene Symbol: CTSC   Gene   UCSC   Ensembl
• Aliases: CPPI, DPP-I, DPP1, DPPI, HMS, JP, JPD, PALS, PDON1, PLS
• Gene name: cathepsin C
• Alternate names: dipeptidyl peptidase 1, cathepsin J, dipeptidyl transferase, dipeptidyl-peptidase I,
• Gene location: 11q14.2 (144827508: 144848069)     Exons: 9     NC_000008.11
• Gene summary(Entrez): This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript v
• OMIM: 602365

Protein Summary

• Protein general information: P53634  
  • Name: Dipeptidyl peptidase 1 (EC 3.4.14.1) (Cathepsin C) (Cathepsin J) (Dipeptidyl peptidase I) (DPP I) (DPPI) (Dipeptidyl transferase) [Cleaved into: Dipeptidyl peptidase 1 exclusion domain chain (Dipeptidyl peptidase I exclusion domain chain); Dipeptidyl pept
  • Length: 463  
  • Mass: 51854
  • Tissue specificity: Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in colon, small intestine, spleen and pancreas. {ECO
• Sequence:

  MGAGPSLLLAALLLLLSGDGAVRCDTPANCTYLDLLGTWVFQVGSSGSQRDVNCSVMGPQEKKVVVYLQKLDTAY
  DDLGNSGHFTIIYNQGFEIVLNDYKWFAFFKYKEEGSKVTTYCNETMTGWVHDVLGRNWACFTGKKVGTASENVY
  VNIAHLKNSQEKYSNRLYKYDHNFVKAINAIQKSWTATTYMEYETLTLGDMIRRSGGHSRKIPRPKPAPLTAEIQ
  QKILHLPTSWDWRNVHGINFVSPVRNQASCGSCYSFASMGMLEARIRILTNNSQTPILSPQEVVSCSQYAQGCEG
  GFPYLIAGKYAQDFGLVEEACFPYTGTDSPCKMKEDCFRYYSSEYHYVGGFYGGCNEALMKLELVHHGPMAVAFE
  VYDDFLHYKKGIYHHTGLRDPFNPFELTNHAVLLVGYGTDSASGMDYWIVKNSWGTGWGENGYFRIRRGTDECAI
  ESIAVAATPIPKL

• Structural information:
  • Interpro: IPR039412  IPR014882  IPR036496  IPR038765  IPR025661   IPR000169  IPR025660  IPR000668  
  • Prosite: PS00640 PS00139 PS00639
  • CDD: cd02621
  • PDB: 1K3B 2DJF 2DJG 3PDF 4CDC 4CDD 4CDE 4CDF 4OEL 4OEM
  • PDBsum: 1K3B 2DJF 2DJG 3PDF 4CDC 4CDD 4CDE 4CDF 4OEL 4OEM
  • STRING: ENSP00000227266
• Other Databases: GeneCards:  CTSC  Malacards:  CTSC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903052	positive regulation of proteolysis involved in cellular protein catabolic process	ISS	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:0006508	proteolysis	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0006955	immune response	TAS	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0010033	response to organic substance	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:1903980	positive regulation of microglial cell activation	IEA	biological process
GO:0031642	negative regulation of myelination	IEA	biological process
GO:0016505	peptidase activator activity involved in apoptotic process	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0001913	T cell mediated cytotoxicity	IEA	biological process
GO:0031404	chloride ion binding	IEA	molecular function
GO:0019902	phosphatase binding	IEA	molecular function
GO:1903052	positive regulation of proteolysis involved in cellular protein catabolic process	IEA	biological process
GO:0051087	chaperone binding	IEA	molecular function
GO:0043621	protein self-association	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:2001235	positive regulation of apoptotic signaling pathway	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0019902	phosphatase binding	ISS	molecular function
GO:0051087	chaperone binding	ISS	molecular function
GO:0005764	lysosome	ISS	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0008234	cysteine-type peptidase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005764	lysosome	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa04210	Apoptosis

Diseases

Associated diseases	References
Lysosomal cysteine protease deficiencies	KEGG:H00425
Papillon-Lefevre syndrome	KEGG:H00274
Haim-Munk syndrome	KEGG:H00696
Lysosomal cysteine protease deficiencies	KEGG:H00425
Papillon-Lefevre syndrome	KEGG:H00274
Haim-Munk syndrome	KEGG:H00696
Prepubertal periodontitis	KEGG:H02050
Papillon-Lefevre disease	PMID:10593994
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Spermatogenic failure	MIK: 17921478
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
17921478	Spermatogenic failure			69 samples	Male infertility	Microarray