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Tpp1
Gene Detail
Symbol

Name
ID
Tpp1
tripeptidyl peptidase I
MGI:1336194
Synonyms
Cln2
Feature Type
protein coding gene
Genetic Map
Chromosome 7
55.97 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr7:105744847-105752207 bp, - strand
From NCBI annotation of GRCm38

  7361 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:335  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: tripeptidyl-peptidase 1
Gene Tree: Tpp1

Human
homologs
Human Homolog TPP1, tripeptidyl peptidase I
NCBI Gene ID 1200
neXtProt AC  NX_O14773
Human Synonyms  CLN2, LPIC, SCAR7, TPP-1
Human Chr (Location)  11p15; chr11:6612766-6619461 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human TPP1
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Chemically induced (ENU)(1) Gene trapped(2) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for targeted mutations exhibit progressive motor defects, reduced lifespan, and respiratory difficulty. One mutation also shows extensive neuronal degeneration and an accumulation of lysosomal storage material. Mice homozygous for a different allele exhibit prenatal lethality.
 
Human Diseases Modeled Using Mouse Tpp1 (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Tpp1 interacts with 247 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process bone resorption, lysosome organization, ...
Component extracellular vesicular exosome, lysosome, ...
Function endopeptidase activity, hydrolase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (174)    Tissues (100)    Images (51)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 40
In situ reporter (knock in) 96
RT-PCR 38
cDNA source data(222)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(225) cDNA(223) Primer pair(2)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000030894 (Evidence)
Entrez Gene12751 (Evidence)
UniGene20837
DFCITC1573392
DoTSDT.111000204, DT.493318, DT.94275651, DT.94403824
NIA Mouse Gene IndexU029044
EC3.4.14.9
Consensus CDS ProjectCCDS21661.1
International Mouse Knockout Project StatusTpp1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 12751 NCBI Gene Model | MGI Sequence Detail 7361 C57BL/6J ±  kb
transcript NM_009906 RefSeq | MGI Sequence Detail 3494 C57BL/6 
polypeptide O89023 UniProt | EBI | MGI Sequence Detail 562 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(4) UniProt(5)
Polymorphisms
PCR(1) : SNPs within 2kb(56 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR015366 Peptidase S53, propeptide
InterPro IPR000209 Peptidase S8/S53 domain
InterPro IPR009020 Proteinase inhibitor, propeptide
Protein Ontology PR:000016585 tripeptidyl-peptidase 1
Graphical View of Protein Domain Structure
References
(Earliest) J:53295 Katz ML, et al., Characterization and chromosomal mapping of a mouse ortholog of the late-infantile ceroid-lipofuscinosis gene CLN2. Mamm Genome. 1999 Nov;10(11):1050-3
(Latest) J:199636 Micsenyi MC, et al., Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease. J Neurosci. 2013 Jun 26;33(26):10815-27
All references(46)
Disease annotation references (4)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/21/2014
MGI 5.20
The Jackson Laboratory