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

Gene ID: 12751, updated on 18-Apr-2024

Summary

Official Symbol
Tpp1provided by MGI
Official Full Name
tripeptidyl peptidase Iprovided by MGI
Primary source
MGI:MGI:1336194
See related
Ensembl:ENSMUSG00000030894 AllianceGenome:MGI:1336194
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
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Genomic context

Location:
7 E3; 7 55.97 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (105394018..105401489, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (105744811..105752282, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene ribosomal RNA processing 8 Neighboring gene STARR-positive B cell enhancer mm9_chr7:112892770-112893071 Neighboring gene integrin linked kinase Neighboring gene TATA-box binding protein associated factor 10 Neighboring gene STARR-positive B cell enhancer mm9_chr7:112900636-112900937 Neighboring gene dachsous cadherin related 1 Neighboring gene predicted gene, 57787 Neighboring gene STARR-positive B cell enhancer ABC_E1092 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 Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (3) 
  • Chemically induced (ENU) (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables endopeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables lysophosphatidic acid binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables peptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables peptide binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables serine-type peptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables serine-type peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables sulfatide binding ISO
Inferred from Sequence Orthology
more info
 
enables tripeptidyl-peptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables tripeptidyl-peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables tripeptidyl-peptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables tripeptidyl-peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
involved_in bone resorption ISO
Inferred from Sequence Orthology
more info
 
involved_in bone resorption ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within lysosomal protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nervous system development ISO
Inferred from Sequence Orthology
more info
 
involved_in nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
acts_upstream_of_or_within neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in peptide catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in peptide catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
 
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in proteolysis ISO
Inferred from Sequence Orthology
more info
 
involved_in proteolysis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in membrane raft ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion HDA PubMed 
located_in recycling endosome ISO
Inferred from Sequence Orthology
more info
 

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)

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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, Q543Q8, Q9QUS7
    UniProtKB/TrEMBL
    Q3TDY6, Q3U2Z6
    Related
    ENSMUSP00000033184.5, ENSMUST00000033184.6
    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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    105394018..105401489 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011241668.4XP_011239970.1  tripeptidyl-peptidase 1 isoform X1

    See identical proteins and their annotated locations for XP_011239970.1

    UniProtKB/TrEMBL
    Q3TDY6, Q3U2Z6
    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