• Gene id: 1514

Gene Summary

• Gene Symbol: CTSL   Gene   UCSC   Ensembl
• Aliases: CATL, CTSL1, MEP
• Gene name: cathepsin L
• Alternate names: cathepsin L1, major excreted protein,
• Gene location: 9q21.33 (87725436: 87731468)     Exons: 9     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil
• OMIM: 116880

Protein Summary

• Protein general information: P07711  
  • Name: Cathepsin L1 (EC 3.4.22.15) (Cathepsin L) (Major excreted protein) (MEP) [Cleaved into: Cathepsin L1 heavy chain; Cathepsin L1 light chain]
  • Length: 333  
  • Mass: 37564
• Sequence:

  MNPTLILAAFCLGIASATLTFDHSLEAQWTKWKAMHNRLYGMNEEGWRRAVWEKNMKMIELHNQEYREGKHSFTM
  AMNAFGDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRSVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQ
  MFRKTGRLISLSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGF
  VDIPKQEKALMKAVATVGPISVAIDAGHESFLFYKEGIYFEPDCSSEDMDHGVLVVGYGFESTESDNNKYWLVKN
  SWGEEWGMGGYVKMAKDRRNHCGIASAASYPTV

• Structural information:
  • Interpro: IPR038765  IPR025661  IPR000169  IPR025660  IPR000668   IPR039417  IPR013201  
  • Prosite: PS00640 PS00139 PS00639
  • CDD: cd02248
  • PDB: 1CJL 1CS8 1ICF 1MHW 2NQD 2VHS 2XU1 2XU3 2XU4 2XU5 2YJ2 2YJ8 2YJ9 2YJB 2YJC 3BC3 3H89 3H8B 3H8C 3HHA 3HWN 3IV2 3K24 3KSE 3OF8 3OF9 4AXL 4AXM 5F02 5I4H 5MAE 5MAJ 5MQY 6EZP 6EZX 6F06
  • PDBsum: 1CJL 1CS8 1ICF 1MHW 2NQD 2VHS 2XU1 2XU3 2XU4 2XU5 2YJ2 2YJ8 2YJ9 2YJB 2YJC 3BC3 3H89 3H8B 3H8C 3HHA 3HWN 3IV2 3K24 3KSE 3OF8 3OF9 4AXL 4AXM 5F02 5I4H 5MAE 5MAJ 5MQY 6EZP 6EZX 6F06
  • STRING: ENSP00000345344
• Other Databases: GeneCards:  CTSL  Malacards:  CTSL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005771	multivesicular body	IDA	cellular component
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:0005764	lysosome	IDA	cellular component
GO:0004197	cysteine-type endopeptidase activity	IMP	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0002224	toll-like receptor signaling pathway	TAS	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	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:0043202	lysosomal 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:0022617	extracellular matrix disassembly	TAS	biological process
GO:0045616	regulation of keratinocyte differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0030574	collagen catabolic process	IDA	biological process
GO:0001968	fibronectin binding	IPI	molecular function
GO:0043394	proteoglycan binding	IPI	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0071888	macrophage apoptotic process	NAS	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0008234	cysteine-type peptidase activity	IDA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0019882	antigen processing and presentation	TAS	biological process
GO:0005576	extracellular region	NAS	cellular component
GO:0097067	cellular response to thyroid hormone stimulus	IEP	biological process
GO:0002250	adaptive immune response	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097655	serpin family protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05205	Proteoglycans in cancer
hsa04140	Autophagy - animal
hsa04145	Phagosome
hsa04142	Lysosome
hsa05418	Fluid shear stress and atherosclerosis
hsa04210	Apoptosis
hsa05323	Rheumatoid arthritis
hsa04612	Antigen processing and presentation

Diseases

Associated diseases	References
hypertrophic cardiomyopathy	PMID:19096818
type 2 diabetes mellitus	PMID:19074676
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray