TPP1

This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]

TPP1 Gene(Protein Coding) Tripeptidyl Peptidase 1

Lysosomal serine protease with tripeptidyl-peptidase I activity (PubMed:11054422, PubMed:19038966, PubMed:19038967).
May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases (PubMed:11054422, PubMed:19038966, PubMed:19038967).
Requires substrates with an unsubstituted N-terminus (PubMed:19038966).

Biological Process bone resorption Source:UniProtKB1 Publication
Biological Process central nervous system development Source:GO_Central1 Publication
Biological Process epithelial cell differentiation Source:UniProtKB1 Publication
Biological Process lipid metabolic process Source:ProtInc1 Publication
Biological Process lysosomal protein catabolic process Source:Ensembl
Biological Process lysosome organization Source:UniProtKB
Biological Process nervous system development Source:UniProtKB1 Publication
Biological Process neuromuscular process controlling balance Source:UniProtKB
Biological Process peptide catabolic process Source:UniProtKB2 Publications
Biological Process protein catabolic process Source:UniProtKB1 Publication
Biological Process protein localization to chromosome, telomeric region Source:CACAO1 Publication
Biological Process proteolysis Source:UniProtKB2 Publications

Lysosome
Melanosome
Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Ceroid lipofuscinosis, neuronal, 2 (CLN2):
A form of neuronal ceroid lipofuscinosis. 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. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles.
Spinocerebellar ataxia, autosomal recessive, 7 (SCAR7):
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR7 patients show difficulty walking and writing, dysarthria, limb ataxia, and cerebellar atrophy.

Activated by autocatalytic proteolytical processing upon acidification (PubMed:11054422, PubMed:19038966, PubMed:19038967).
N-glycosylation is required for processing and activity (PubMed:19038966, PubMed:19038967).