CTSD
CTSD (Cathepsin D) is a Protein Coding gene. Diseases associated with CTSD include Ceroid Lipofuscinosis, Neuronal, 10 and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Peptide hormone metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is ENSG00000250644.
Function
Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034).
Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.
Biological Process
Antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
Collagen catabolic process Source: Reactome
Lipoprotein catabolic process Source: ARUK-UCL
Neutrophil degranulation Source: Reactome
Positive regulation of apoptotic process Source: ARUK-UCL
Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: ARUK-UCL
Proteolysis Source: ARUK-UCL
Regulation of establishment of protein localization Source: ARUK-UCL
Cellular Location
Extracellular space; Lysosome; Melanosome. 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).
Involvement in disease
Ceroid lipofuscinosis, neuronal, 10 (CLN10):
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.
PTM
N- and O-glycosylated.
Undergoes proteolytic cleavage and activation by ADAM30.
As well as the major heavy chain which starts at Leu-169, 2 minor forms starting at Gly-170 and Gly-171 have been identified (PubMed:1426530). An additional form starting at Ala-168 has also been identified (PubMed:27333034).
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Datasheet