Endometriosis Knowledgebase

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Gene id

1509

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]

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

Tissue specificity: Expressed in the aorta extrcellular space (at protein level) (PubMed

Sequence

MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYM
DAQYYGEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGY
LSQDTVSVPCQSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVD
QNIFSFYLSRDPDAQPGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSL
MVGPVDEVRELQKAIGAVPLIQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDI
PPPSGPLWILGDVFIGRYYTVFDRDNNRVGFAEAARL

Structural information

Protein Domains	Peptidase (79-407)
Interpro:	IPR001461 IPR001969 IPR012848 IPR033736 IPR033144 IPR033121 IPR021109
Prosite:	PS00141 PS51767
Pfam:	PF07966 PF00026
CDD:	cd05490
PDB:	1LYA 1LYB 1LYW 4OBZ 4OC6 4OD9
PDBsum:	1LYA 1LYB 1LYW 4OBZ 4OC6 4OD9
DIP:	43906
MINT:	3005628
STRING:	ENSP00000236671;

Other Databases

GeneCards: CTSD; Malacards: CTSD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004190	aspartic-type endopeptida se activity	IEA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se 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 pr esentation of exogenous p eptide antigen via MHC cl ass II	TAS	biological_process
GO:0030163	protein catabolic process	IBA	biological_process
GO:0030574	collagen catabolic proces s	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 endopeptida se activity	IEA	molecular_function
GO:0004190	aspartic-type endopeptida se activity	IEA	molecular_function
GO:0004190	aspartic-type endopeptida se activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se 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 pr esentation of exogenous p eptide antigen via MHC cl ass II	TAS	biological_process
GO:0030163	protein catabolic process	IBA	biological_process
GO:0030574	collagen catabolic proces s	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 endopeptida se activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se 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 pr esentation of exogenous p eptide antigen via MHC cl ass II	TAS	biological_process
GO:0030163	protein catabolic process	IBA	biological_process
GO:0030574	collagen catabolic proces s	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

hsa05152  Tuberculosis
hsa04210  Apoptosis
hsa04071  Sphingolipid signaling pathway
hsa04140  Autophagy - animal
hsa04142  Lysosome

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 15211070
Azoospermia	PMID: 18068167
Cancer	PMID: 19950226
Ceroid lipofuscinosis	OMIM: 116840
Creutzfeldt-Jakob disease	PMID: 18426579
Endometriosis	PMID: 23466190
Male infertility	PMID: 15120973
Neuronal ceroid lipofuscinosis	KEGG: H00149
Parkinson's disease	PMID: 12811635
Periodontitis	PMID: 15081423
Polycystic ovary syndrome (PCOS)	PMID: 17924458
Endometriosis	INFBASE8641485

PubMed references

PMID	Condition	Population details	Associated_genes	Abstract
11331669	Endometrio sis	54 (33 women wi th endometriosi s, 21 without e ndometriosis)	cathepsin D	Show abstract
8641485	Endometrio sis	35 women underg oing laparotomy for clinical i ndications	cathepsin D	Show abstract
23466190	Endometrio sis	55 (31 patients with endometri osis (stages I- IV), 24 control s)	cathepsins B cathepsins D cathepsins G	Show abstract