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MGP000033

UniProt Annotations

Entry Information

Gene Name	acid phosphatase 5, tartrate resistant
Protein Entry	PPA5_HUMAN
UniProt ID	P13686
Species	Human

Comments

Comment type	Description
Catalytic Activity	A phosphate monoester + H(2)O = an alcohol + phosphate.
Cofactor	Name=Fe cation; Xref=ChEBI:CHEBI:24875; Note=Binds 2 iron ions per subunit.;
Disease	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]: A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. {ECO:0000269\|PubMed:21217752, ECO:0000269\|PubMed:21217755}. Note=The disease is caused by mutations affecting the gene represented in this entry. ACP5 inactivating mutations result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease.
Function	Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias.
Similarity	Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family. {ECO:0000305}.
Subcellular Location	Lysosome.
Subunit	Exists either as monomer or, after proteolytic processing, as a dimer of two chains linked by disulfide bond(s). {ECO:0000269\|PubMed:1477968, ECO:0000269\|PubMed:15993892, ECO:0000269\|PubMed:1872798}.
Web Resource	Name=Wikipedia; Note=Tartrate-resistant acid phosphatase entry; URL="http://en.wikipedia.org/wiki/Tartrate-resistant_acid_phosphatase";