• Gene id: 1509

Gene Summary

• Gene Symbol: CTSD   Gene   UCSC   Ensembl
• Aliases: CLN10, CPSD, HEL-S-130P
• Gene name: cathepsin D
• Alternate names: cathepsin D, ceroid-lipofuscinosis, neuronal 10, epididymis secretory sperm binding protein Li 130P, lysosomal aspartyl peptidase, lysosomal aspartyl protease,
• Gene location: 11p15.5 (1763991: 1752751)     Exons: 9     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature
• OMIM: 116840

Protein Summary

• Protein general information: P07339  
  • Name: Cathepsin D (EC 3.4.23.5) [Cleaved into: Cathepsin D light chain; Cathepsin D heavy chain]
  • Length: 412  
  • Mass: 44,552
• Sequence:

  MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYM
  DAQYYGEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGY
  LSQDTVSVPCQSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVD
  QNIFSFYLSRDPDAQPGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSL
  MVGPVDEVRELQKAIGAVPLIQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDI
  PPPSGPLWILGDVFIGRYYTVFDRDNNRVGFAEAARL

• Structural information:
  • Protein Domains: Peptidase (79-407)
  • Interpro: IPR001461  IPR001969  IPR012848  IPR033144  IPR033121   IPR021109  
  • Prosite: PS00141 PS51767
  • CDD: cd05490
  • PDB: 1LYA 1LYB 1LYW 4OBZ 4OC6 4OD9
  • PDBsum: 1LYA 1LYB 1LYW 4OBZ 4OC6 4OD9
  • DIP: 43906
  • STRING: ENSP00000236671
• Other Databases: GeneCards:  CTSD  Malacards:  CTSD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006914	autophagy	IBA	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030163	protein catabolic process	IBA	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0042470	melanosome	IEA	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0031012	extracellular matrix	IDA	cellular component
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0004190	aspartic-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006914	autophagy	IBA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030163	protein catabolic process	IBA	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0042470	melanosome	IEA	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0031012	extracellular matrix	IDA	cellular component
GO:0004190	aspartic-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0006914	autophagy	IBA	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030163	protein catabolic process	IBA	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0031012	extracellular matrix	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04071	Sphingolipid signaling pathway
hsa04142	Lysosome
hsa04140	Autophagy - animal
hsa04210	Apoptosis
hsa04915	Estrogen signaling pathway
hsa05152	Tuberculosis

Diseases

Associated diseases	References
Cancer	GAD: 19950226
Cancer (ovarian)	GAD: 19950226
Cardiovascular disease	GAD: 20855565
Neuronal ceroid lipofuscinosis	KEGG: H00149
Periodontitis	GAD: 15081423
Creutzfeldt-Jakob disease	GAD: 18426579
Ceroid lipofuscinosis	OMIM: 116840
Parkinson disease	GAD: 12811635
Alzheimer's disease	GAD: 19926167
Polycystic ovary syndrome (PCOS)	INFBASE: 17924458
Endometriosis	INFBASE: 23466190
Female infertility	INFBASE: 11331669
Male factor infertility	MIK: 15120973
Azoospermia	MIK: 18068167
Azoospermia	MIK: 18068167
Male infertility	MIK: 18068167
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18068167	Azoospermia, Male infertility			6 (3 fertile men with normal spermatogenesis, 3 azoospermic patients)	Male infertility	phospholipid hydroperoxide glutathione peroxidase peroxiredoxin 4 (Prx4) heat shock protein beta-1 (HSP27) and cathepsin D (CTSD)
15120973	Male infertility			8 testis biopsies	Male infertility	Vim Rad23A Rad23B Gsr Gstp 1 Mgst1 Ace Casp1 Ctsd Prlr Tmsb4 and Zfp-37 Hsp 1 Osp94
18068167	Azoospermia			6 (3 fertile men with normal spermatogenesis, 3 azoospermic patients )	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)