TPP1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TPP1 |
| Official Name | tripeptidyl peptidase 1 [Source:HGNC Symbol;Acc:HGNC:2073] |
| Ensembl ID | ENSG00000166340 |
| Bio databases IDs | |
| Aliases | tripeptidyl peptidase 1, TPP I, lysosomal pepstatin-insensitive carboxypeptidase |
| Synonyms | CLN2, GIG1, LPIC, SCAR7, TPP-I, tripeptidyl peptidase 1, Tripeptidyl peptidase i |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TPP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- peptide binding
- lipid binding
- peptidase
- protein binding
- tripeptidyl-peptidase
- Peptidase domain in the S8 and S53 families
- endopeptidase
- binding protein
- serine-type peptidase
- Activation domain of S53 peptidases
- pro domain
- glycosylation site
Pathways
Biological processes and signaling networks where the TPP1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neuronal ceroid lipofuscinosis
- neuronal ceroid lipofuscinosis 2
- androgenic alopecia
- autosomal recessive spinocerebellar ataxia type 7
- hereditary disorder
- Angelman syndrome
- epilepsy
- juvenile neuronal ceroid lipofuscinosis
- peripheral arterial disease
- gastroesophageal reflux
role in cell
- cell death
- organization
- loss in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- soluble fraction
- lysosome
- Golgi Apparatus
- cytosol
- lysosomal compartment
- recycling endosomes
- membrane rafts
- telomeres
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TPP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial cell differentiation
- lysosome organization
- central nervous system development
- peptide catabolic process
- bone resorption
- protein catabolic process
- lipid metabolic process
- proteolysis
- protein localization to chromosome, telomeric region
- nervous system development
- neuromuscular process controlling balance
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- melanosome
- membrane raft
- Golgi apparatus
- lysosomal lumen
- recycling endosome
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- lysophosphatidic acid binding
- metal ion binding
- tripeptidyl-peptidase activity
- serine-type peptidase activity
- serine-type endopeptidase activity
- endopeptidase activity
- peptide binding
- peptidase activity