Cathepsin D

Homo sapiensTaxon: 9606

3D-structureAlzheimer diseaseAspartyl proteaseDirect protein sequencingDisease variantDisulfide bondGlycoproteinHydrolaseLysosomeNeurodegenerationNeuronal ceroid lipofuscinosisProtease+5

Sequence Length

412

amino acids

Molecular Weight

44.6 kDa

theoretical

Experimental Structures

PDB entries

Related Diseases

recorded

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

Localization & Distribution

Tissue Specificity

Expressed in the aorta extracellular space (at protein level) (PubMed:20551380). Expressed in liver (at protein level) (PubMed:1426530)

Related Diseases

Ceroid lipofuscinosis, neuronal, 10

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.

Amino Acid Sequence

MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVP
AVTEGPIPEVLKNYMDAQYYGEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIH
HKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPCQSASSASALGGVKVERQVFG
EATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ

FASTA format · 412 amino acids · mass 44.6 kDa

Experimental Structures

9 PDB entries

1LYA1LYB1LYW4OBZ4OC64OD96QBG6QBH6QCB

Post-Translational Modifications

•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)