NPEPPS
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Puromycin-sensitive amino peptidase also known as cytosol alanyl aminopeptidase or alanine aminopeptidase (AAP-S) ( ) is an enzyme that in humans is encoded by the NPEPPS gene.
Puromycin-sensitive amino peptidase also known as cytosol alanyl aminopeptidase or alanine aminopeptidase (AAP-S) ( ) is an enzyme that in humans is encoded by the NPEPPS gene.
Structure
Gene
The NPEPPS gene is located at chromosome 17q21, consisting of 25 exons and spanning 40 kb. NPEPPS segmental duplications form different fusion genes in different African great apes, for instance, NPEPPS-TBC1D3 in humans and NPEPPS-CCL4 in Pan.
Protein
NPEPPS is a ubiquitous, 100 kDa, Zn 2+ metallopeptidase highly expressed in the brain. Two isozymes have been found and they are expressed differently in the nervous system. Glu 309 is one of the active site glutamates, and its mutation could convert the enzyme into an inactive binding protein.
Clinical significance
NPEPPS is induced in neurons expressing mutant huntingtin and is critical in preventing the accumulation of polyglutamine in normal cells. It has been reported as the major peptidase digesting polyglutamine sequences in neurodegenerative diseases, such as Huntington's disease. It has been shown that elevation of NPEPPS activity in vivo could effectively block accumulation of hyperphosphorylated TAU protein and thus slow down the disease progression, suggesting increasing NPEPPS activity may be a feasible therapeutic approach to eliminate accumulation of toxic substrates, which are involved in neurodegenerative diseases.
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