Aliases for TPP1 Gene
External Ids for TPP1 Gene
Previous HGNC Symbols for TPP1 Gene
Previous GeneCards Identifiers for TPP1 Gene
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]
GeneCards Summary for TPP1 Gene
TPP1 (Tripeptidyl Peptidase I) is a Protein Coding gene. Diseases associated with TPP1 include ceroid lipofuscinosis, neuronal, 2 and spinocerebellar ataxia, autosomal recessive 7. Among its related pathways are Lysosome and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity.
UniProtKB/Swiss-Prot for TPP1 Gene
Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity).