Predicate | Object |
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rdf:type | |
http://www.biopax.org/relea... | |
http://www.biopax.org/relea... |
Lysosomal acid phosphatase
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http://www.biopax.org/relea... |
PPAL_HUMAN
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http://www.biopax.org/relea... | |
http://www.biopax.org/relea... |
3.1.3.2,
LAP
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http://www.biopax.org/relea... |
CATALYTIC ACTIVITY: A phosphate monoester + H(2)O = an alcohol + phosphate. SUBCELLULAR LOCATION: Lysosome membrane; Single-pass membrane protein; Lumenal side. Lysosome lumen. Note=The soluble form arises by proteolytic processing of the membrane-bound form. PTM: The membrane-bound form is converted to the soluble form by sequential proteolytic processing. First, the C-terminal cytoplasmic tail is removed. Cleavage by a lysosomal protease releases the soluble form in the lysosome lumen. PTM: N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used. DISEASE: Defects in ACP2 are a cause of acid phosphatase deficiency (ACPHD) [MIM:200950]. The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy. Lysosomal acid phosphatase is deficient in cultured fibroblasts and multiple tissues. SIMILARITY: Belongs to the histidine acid phosphatase family. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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skos:closeMatch |