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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Tpp1 ± 2 cM)

Protein SuperFamily: tripeptidyl-peptidase 1
Gene Tree: Tpp1

Human ortholog

TPP1 tripeptidyl peptidase I NCBI Gene ID 1200
Human Synonyms: CLN2, LPIC, TPP-1
Human Chr11:6633997-6640692 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human TPP1 (1)

Alleles and phenotypes

All alleles(9) : Targeted(7) Gene trapped(2)
 

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(2)   

Gene Ontology (GO) classifications

All GO classifications: (28 annotations)

Process	bone resorption, lysosome organization, ...
Component	lysosome, mitochondrion
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)
Theiler Stages: 19, 23, 28

Assay Type	Results
RNA in situ	40
In situ reporter (knock in)	96
RT-PCR	38

cDNA source data(223)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(226) cDNA(224) 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 Knockout Project Status	Tpp1

Sequences

Length	Strain/Species
genomic	12751	NCBI Gene Model | MGI Sequence Detail	7361	C57BL/6J
transcript	NM_009906	RefSeq | MGI Sequence Detail	3494	C57BL/6
polypeptide	O89023	UniProt | EBI | MGI Sequence Detail	562	Not Applicable

All sequences(38) RefSeq(2) UniProt(3)

Polymorphisms

PCR(1) : SNPs(18 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR015366	Peptidase S53, propeptide
InterPro	IPR000209	Peptidase S8/S53, subtilisin/kexin/sedolisin
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:189644 Meng Y, et al., Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification. PLoS One. 2012;7(7):e40509
All references(44)