Cathepsin D

Homo sapiensTaxon: 9606

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

Longueur de Séquence

412

acides aminés

Poids Moléculaire

44.6 kDa

théorique

Structures Expérimentales

entrées PDB

Maladies Associées

enregistrées

Fonction

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

Localisation & Distribution

Spécificité Tissulaire

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

Maladies Associées

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.

Séquence d'Acides Aminés

MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVP
AVTEGPIPEVLKNYMDAQYYGEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIH
HKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPCQSASSASALGGVKVERQVFG
EATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ

Format FASTA · 412 acides aminés · masse 44.6 kDa

Structures Expérimentales

9 entrées PDB

1LYA1LYB1LYW4OBZ4OC64OD96QBG6QBH6QCB

Modifications Post-Traductionnelles

•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)