Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Tpp1. (This text reflects annotations as of Tuesday, May 21, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of October 24, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Tpp1
  • is located in the following cellular components:
    • mitochondrion ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Tpp1
  • participates in the following biological processes:
    • lysosome organization ^[2]
    • neuromuscular process controlling balance ^[2]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Tpp1:
  • participates in the following biological processes:
    • bone resorption
    • nervous system development
    • peptide catabolic process
    • proteolysis
  • performs the following molecular functions:
    • endopeptidase activity
    • peptidase activity
    • peptide binding
    • serine-type peptidase activity
    • tripeptidyl-peptidase activity
  • is located in the following cellular components:
    • lysosome

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Summary text based on GO annotations supported by structural data

• Tpp1 encodes a protein or proteins that contain the following InterPro domains: Peptidase S53, propeptide, Peptidase S8/S53 domain, Proteinase inhibitor, propeptide, indicating that the gene product:
  • performs the following molecular functions:
    • serine-type endopeptidase activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Tpp1 indicates that it:
  • performs the following molecular functions:
    • hydrolase activity
    • metal ion binding

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References

1. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)
2. Sleat DE et al. (2004) A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. J Neurosci, 24:9117-26. (PubMed:15483130)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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