InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CTSD

Summary

InnateDB Protein

IDBP-19617.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CTSD

Protein Name

cathepsin D

Synonyms

CLN10; CPSD; HEL-S-130P;

Species

Homo sapiens

Ensembl Protein

ENSP00000236671

InnateDB Gene

IDBG-19613 (CTSD)

Protein Structure

UniProt Annotation

Function

Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.

Subcellular Localization

Lysosome. Melanosome. Secreted, extracellular space. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In aortic samples, detected as an extracellular protein loosely bound to the matrix (PubMed:20551380). {ECO:0000269PubMed:20551380}.

Disease Associations

Ceroid lipofuscinosis, neuronal, 10 (CLN10) [MIM:610127]: A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. {ECO:0000269PubMed:16670177, ECO:0000269PubMed:16685649, ECO:0000269PubMed:21990111}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the aorta extrcellular space (at protein level). {ECO:0000269PubMed:20551380}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	35 [view]
Protein-Protein	31 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004190	aspartic-type endopeptidase activity
GO:0005515	protein binding

Biological Process

GO:0006508	proteolysis
GO:0008219	cell death
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process
GO:0045087	innate immune response (InnateDB)

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005764	lysosome
GO:0031012	extracellular matrix
GO:0042470	melanosome
GO:0043202	lysosomal lumen
GO:0070062	extracellular vesicular exosome