Homo sapiens Gene: TPP1
Summary
InnateDB Gene IDBG-29461.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TPP1
Gene Name tripeptidyl peptidase I
Synonyms CLN2; LPIC; SCAR7; TPP-1;
Species Homo sapiens
Ensembl Gene ENSG00000166340
Encoded Proteins
tripeptidyl peptidase I
tripeptidyl peptidase I
tripeptidyl peptidase I
tripeptidyl peptidase I
tripeptidyl peptidase I
tripeptidyl peptidase I
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:6612763-6619461
Strand Reverse strand
Band p15.4
Transcripts
ENST00000299427 ENSP00000299427
ENST00000436873 ENSP00000398136
ENST00000428886
ENST00000533371 ENSP00000437066
ENST00000524611
ENST00000532191
ENST00000524924
ENST00000528807
ENST00000524788
ENST00000528571 ENSP00000434647
ENST00000534644
ENST00000530040
ENST00000528917
ENST00000531754
ENST00000524903
ENST00000528657 ENSP00000435001
ENST00000611494 ENSP00000484546
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
Cellular Component
GO:0005739 mitochondrion
GO:0005764 lysosome
GO:0042470 melanosome
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
IRE1alpha activates chaperones pathway
Unfolded Protein Response (UPR) pathway
XBP1(S) activates chaperone genes pathway
Metabolism of proteins pathway
KEGG
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL E7EV34 E9PME9
UniProt Splice Variant
Entrez Gene 1200
UniGene Hs.523454 Hs.608736 Hs.613735
RefSeq NM_000391
HUGO HGNC:2073
OMIM 607998
CCDS CCDS7770
HPRD 06415
IMGT
EMBL AC091564
GenPept
RNA Seq Atlas 1200