• Gene id: 1515

Gene Summary

• Gene Symbol: CTSV   Gene   UCSC   Ensembl
• Aliases: CATL2, CTSL2, CTSU
• Gene name: cathepsin V
• Alternate names: cathepsin L2, cathepsin L2, preproprotein, cathepsin U,
• Gene location: 9q22.33 (67980498: 67975662)     Exons: 10     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gl
• OMIM: 603308

Protein Summary

• Protein general information: O60911  
  • Name: Cathepsin L2 (EC 3.4.22.43) (Cathepsin U) (Cathepsin V)
  • Length: 334  
  • Mass: 37329
  • Tissue specificity: Predominantly expressed in the thymus and testis. Also expressed in corneal epithelium, and to a lesser extent in conjunctival epithelium and skin. {ECO
• Sequence:

  MNLSLVLAAFCLGIASAVPKFDQNLDTKWYQWKATHRRLYGANEEGWRRAVWEKNMKMIELHNGEYSQGKHGFTM
  AMNAFGDMTNEEFRQMMGCFRNQKFRKGKVFREPLFLDLPKSVDWRKKGYVTPVKNQKQCGSCWAFSATGALEGQ
  MFRKTGKLVSLSEQNLVDCSRPQGNQGCNGGFMARAFQYVKENGGLDSEESYPYVAVDEICKYRPENSVANDTGF
  TVVAPGKEKALMKAVATVGPISVAMDAGHSSFQFYKSGIYFEPDCSSKNLDHGVLVVGYGFEGANSNNSKYWLVK
  NSWGPEWGSNGYVKIAKDKNNHCGIATAASYPNV

• Structural information:
  • Interpro: IPR038765  IPR025661  IPR000169  IPR025660  IPR000668   IPR039417  IPR013201  
  • Prosite: PS00640 PS00139 PS00639
  • CDD: cd02248
  • PDB: 1FH0 3H6S 3KFQ
  • PDBsum: 1FH0 3H6S 3KFQ
  • STRING: ENSP00000445052
• Other Databases: GeneCards:  CTSV  Malacards:  CTSV

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051603	proteolysis involved in cellular protein catabolic process	IBA	biological process
GO:0005764	lysosome	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
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:0005764	lysosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
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:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
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:0004177	aminopeptidase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005773	vacuole	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0007154	cell communication	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0030141	secretory granule	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0048102	autophagic cell death	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:1990834	response to odorant	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008584	male gonad development	IEA	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0010259	multicellular organism aging	IEA	biological process
GO:0021675	nerve development	IEA	biological process
GO:0030984	kininogen binding	IEA	molecular function
GO:0034698	response to gonadotropin	IEA	biological process
GO:0042277	peptide binding	IEA	molecular function
GO:0043204	perikaryon	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0046697	decidualization	IEA	biological process
GO:0060008	Sertoli cell differentiation	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa04210	Apoptosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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