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Tpp1 tripeptidyl peptidase I [ Mus musculus (house mouse) ]

Gene ID: 12751, updated on 31-Jan-2019

Summary

Official Symbol
Tpp1provided by MGI
Official Full Name
tripeptidyl peptidase Iprovided by MGI
Primary source
MGI:MGI:1336194
See related
Ensembl:ENSMUSG00000030894
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Cln2; LPIC; TPP-1; TPP-I
Summary
This gene encodes a lysosomal serine protease that cleaves N-terminal tripeptides from protein substrates. The encoded preproprotein undergoes autocatalytic processing to generate a mature enzyme. Mice lacking the encoded protein exhibit a progressive neurodegeneration and a greatly shortened lifespan. At the cellular level, mice lacking the encoded protein exhibit accumulation of autofluorescent lipopigments. Mutations in the human ortholog of this gene cause classical late-infantile neuronal ceroid lipofuscinosis. [provided by RefSeq, Nov 2015]
Expression
Ubiquitous expression in kidney adult (RPKM 66.4), subcutaneous fat pad adult (RPKM 41.2) and 28 other tissues See more
Orthologs

Genomic context

See Tpp1 in Genome Data Viewer
Location:
7 E3; 7 55.97 cM
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 7 NC_000073.6 (105744811..105752282, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (112893361..112900721, complement)

Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene ribosomal RNA processing 8, methyltransferase, homolog (yeast) Neighboring gene integrin linked kinase Neighboring gene TATA-box binding protein associated factor 10 Neighboring gene dachsous cadherin related 1 Neighboring gene uncharacterized LOC108167454 Neighboring gene mitochondrial ribosomal protein L17

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Chemically induced (ENU) (1) 

Pathways from BioSystems

  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
endopeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
peptidase activity ISO
Inferred from Sequence Orthology
more info
 
peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
peptide binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
serine-type peptidase activity ISO
Inferred from Sequence Orthology
more info
 
serine-type peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
tripeptidyl-peptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tripeptidyl-peptidase activity ISO
Inferred from Sequence Orthology
more info
 
tripeptidyl-peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
bone resorption ISO
Inferred from Sequence Orthology
more info
 
bone resorption ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system development ISO
Inferred from Sequence Orthology
more info
 
nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptide catabolic process ISO
Inferred from Sequence Orthology
more info
 
peptide catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis ISO
Inferred from Sequence Orthology
more info
 
proteolysis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosome ISO
Inferred from Sequence Orthology
more info
 
lysosome ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
mitochondrion HDA PubMed 

General protein information

Preferred Names
tripeptidyl-peptidase 1
Names
ceroid-lipofuscinosis, neuronal 2
lysosomal pepstatin-insensitive protease
tripeptidyl aminopeptidase
NP_034036.1
XP_011239970.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_009906.6NP_034036.1  tripeptidyl-peptidase 1 preproprotein

    See identical proteins and their annotated locations for NP_034036.1

    Status: REVIEWED

    Source sequence(s)
    AA499658, AC121823, AK002418, AK048279
    Consensus CDS
    CCDS21661.1
    UniProtKB/Swiss-Prot
    O89023
    Related
    ENSMUSP00000033184.4, ENSMUST00000033184.5
    Conserved Domains (2) summary
    cd04056
    Location:198556
    Peptidases_S53; Peptidase domain in the S53 family
    cd11377
    Location:34173
    Pro-peptidase_S53; Activation domain of S53 peptidases

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000073.6 Reference GRCm38.p4 C57BL/6J

    Range
    105744811..105752282 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011241668.2XP_011239970.1  tripeptidyl-peptidase 1 isoform X1

    See identical proteins and their annotated locations for XP_011239970.1

    Conserved Domains (2) summary
    cd04056
    Location:198474
    Peptidases_S53; Peptidase domain in the S53 family
    cd11377
    Location:34173
    Pro-peptidase_S53; Activation domain of S53 peptidases
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