P07339
CATD_HUMANCTSD
Cathepsin D
Homo sapiensTaxon: 9606
3D-structureAlzheimer diseaseAspartyl proteaseDirect protein sequencingDisease variantDisulfide bondGlycoproteinHydrolaseLysosomeNeurodegenerationNeuronal ceroid lipofuscinosisProtease+5
配列長
412
アミノ酸
分子量
44.6 kDa
理論値
実験構造
9
PDB エントリー
関連疾患
1
記録済み
機能記述
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
局在と分布
組織特異性
Expressed in the aorta extracellular space (at protein level) (PubMed:20551380). Expressed in liver (at protein level) (PubMed:1426530)
関連疾患
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.
アミノ酸配列
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVP AVTEGPIPEVLKNYMDAQYYGEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIH HKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPCQSASSASALGGVKVERQVFG EATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
FASTA 形式 · 412 アミノ酸 · 分子量 44.6 kDa
実験構造
9 PDB エントリー1LYA1LYB1LYW4OBZ4OC64OD96QBG6QBH6QCB
翻訳後修飾
- •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)