InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TPP1

Summary

InnateDB Protein

IDBP-590574.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TPP1

Protein Name

tripeptidyl peptidase I

Synonyms

CLN2; LPIC; SCAR7; TPP-1;

Species

Homo sapiens

Ensembl Protein

ENSP00000437066

InnateDB Gene

IDBG-29461 (TPP1)

Protein Structure

UniProt Annotation

Function

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). {ECO:0000250}.

Subcellular Localization

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

Disease Associations

Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]: 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. {ECO:0000269PubMed:10330339, ECO:0000269PubMed:10665500, ECO:0000269PubMed:11241479, ECO:0000269PubMed:11339651, ECO:0000269PubMed:11589012, ECO:0000269PubMed:12376936, ECO:0000269PubMed:12414822, ECO:0000269PubMed:12698559, ECO:0000269PubMed:19201763, ECO:0000269PubMed:20340139, ECO:0000269PubMed:21990111, ECO:0000269PubMed:9295267}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spinocerebellar ataxia, autosomal recessive, 7 (SCAR7) [MIM:609270]: Spinocerebellar ataxia defines 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. {ECO:0000269PubMed:23418007}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in all tissues examined with highest levels in heart and placenta and relatively similar levels in other tissues.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	21 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004175	endopeptidase activity
GO:0004252	serine-type endopeptidase activity
GO:0005515	protein binding
GO:0008233	peptidase activity
GO:0008236	serine-type peptidase activity
GO:0008240	tripeptidyl-peptidase activity
GO:0042277	peptide binding
GO:0046872	metal ion binding

Biological Process

GO:0006508	proteolysis
GO:0006629	lipid metabolic process
GO:0006987	activation of signaling protein activity involved in unfolded protein response
GO:0007040	lysosome organization
GO:0007399	nervous system development
GO:0008219	cell death
GO:0030163	protein catabolic process
GO:0030855	epithelial cell differentiation
GO:0030968	endoplasmic reticulum unfolded protein response
GO:0043171	peptide catabolic process
GO:0044267	cellular protein metabolic process
GO:0045453	bone resorption
GO:0050885	neuromuscular process controlling balance