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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 Ensembl 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

HCOP human homology predictions: TPP1
Protein SuperFamily: tripeptidyl-peptidase 1
Gene Tree: Tpp1

Human
homologs
TPP1, tripeptidyl peptidase I
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1200
neXtProt AC: NX_O14773

Human Synonyms: CLN2, GIG1, LPIC, SCAR7, TPP-1

Human Chr (Location): 11p15; chr11:6612766-6619461 (-)  GRCh38.p2

Disease Associations: (2) 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 in Mice Using Tpp1 (1)    Mutations Annotated to Human Diseases (3)   
Interactions
Tpp1 interacts with 246 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (34 annotations)
Process bone resorption, central nervous system development, ...
Component extracellular 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase tpp1    NEW 
Molecular
reagents
All nucleic(225) cDNA(223) Primer pair(2)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000030894 (Evidence)
Entrez Gene 12751 (Evidence)
UniGene 20837
DFCI TC1573392
DoTS DT.111000204, DT.493318, DT.94275651, DT.94403824
NIA Mouse Gene Index U029044
EC 3.4.14.9
Consensus CDS Project CCDS21661.1
International Mouse Phenotyping Consortium Status Tpp1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000030894 Ensembl Gene Model | MGI Sequence Detail 7361 C57BL/6J ±  kb
transcript ENSMUST00000033184 Ensembl | MGI Sequence Detail 3494 Not Applicable 
polypeptide ENSMUSP00000033184 Ensembl | MGI Sequence Detail 562 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(6) UniProt(3)
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
InterPro IPR030400 Sedolisin domain
Protein Ontology PR:000016585 tripeptidyl-peptidase 1
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:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
All references(47)
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
08/25/2015
MGI 6.0
The Jackson Laboratory