ACP5 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. Defects in ACP5 are the cause of spondyloenchondrodysplasia with immune dysregulation (SPENCDI). 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. ACP5 inactivating mutations result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease. Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family. Note: This description may include information from UniProtKB.
Protein type: Cofactor and Vitamin Metabolism - riboflavin; EC 3.1.3.2; Motility/polarity/chemotaxis; Phosphatase
Chromosomal Location of Human Ortholog: 19p13.2
Cellular Component:  cytosol; integral component of membrane; lysosome
Molecular Function:  ferric iron binding; ferrous iron binding
Biological Process:  bone morphogenesis; defense response to Gram-positive bacterium; dephosphorylation; negative regulation of inflammatory response; negative regulation of interleukin-1 beta production; negative regulation of interleukin-12 production; negative regulation of nitric oxide biosynthetic process; negative regulation of superoxide anion generation; negative regulation of tumor necrosis factor production; response to cytokine; response to lipopolysaccharide; riboflavin metabolic process
Disease: Spondyloenchondrodysplasia With Immune Dysregulation
Reference #:  P13686 (UniProtKB)
Alt. Names/Synonyms: acid phosphatase 5, tartrate resistant; ACP5; MGC117378; PPA5; Tartrate-resistant acid ATPase; Tartrate-resistant acid phosphatase type 5; TR-AP; TRAP; TrATPase; Type 5 acid phosphatase
Gene Symbols: ACP5
Molecular weight: 36,599 Da
Basal Isoelectric point: 8.82  Predict pI for various phosphorylation states
Select Structure to View Below

ACP5

Protein Structure Not Found.


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