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MGP000727

UniProt Annotations

Entry Information
Gene Namecathepsin D
Protein EntryCATD_HUMAN
UniProt IDP07339
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivitySpecificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.
DiseaseCeroid 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:0000269|PubMed:16670177, ECO:0000269|PubMed:16685649, ECO:0000269|PubMed:21990111}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAcid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.
InteractionP05067:APP; NbExp=2; IntAct=EBI-2115097, EBI-77613;
PolymorphismThe Val-58 allele is significantly overrepresented in demented patients (11.8%) compared with non-demented controls (4.9%). Carriers of the Val-58 allele have a 3.1-fold increased risk for developing AD than non-carriers.
PtmN- and O-glycosylated. {ECO:0000269|PubMed:12754519, ECO:0000269|PubMed:16263699, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:23234360}.
SimilarityBelongs to the peptidase A1 family. {ECO:0000305}.
Subcellular LocationLysosome. 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:0000269|PubMed:20551380}.
SubunitConsists of a light chain and a heavy chain.
Tissue SpecificityExpressed in the aorta extrcellular space (at protein level). {ECO:0000269|PubMed:20551380}.
Web ResourceName=NCL CTSD; Note=Neural Ceroid Lipofuscinoses mutation db; URL="http://www.ucl.ac.uk/ncl/catD.shtml";
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