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Tpp1 Gene Detail
Summary
  • Symbol
    Tpp1
  • Name
    tripeptidyl peptidase I
  • Synonyms
    Cln2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1336194
    NCBI Gene: 12751
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:105394018-105401442 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 55.97 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    207 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1336194
 protein coding gene Chr7:105394018-105401489 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032764
 protein coding gene Chr7:109014123-109021481 (-)
A/J MGP_AJ_G0032744
 protein coding gene Chr7:106164787-106172097 (-)
AKR/J MGP_AKRJ_G0032677
 protein coding gene Chr7:108931407-108938718 (-)
BALB/cJ MGP_BALBcJ_G0032750
 protein coding gene Chr7:105873308-105880619 (-)
C3H/HeJ MGP_C3HHeJ_G0032459
 protein coding gene Chr7:109038933-109046291 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033255
 protein coding gene Chr7:113374586-113381899 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030239
 protein coding gene Chr7:108132057-108139284 (-)
CAST/EiJ MGP_CASTEiJ_G0031789
 protein coding gene Chr7:100869132-100876371 (-)
CBA/J MGP_CBAJ_G0032433
 protein coding gene Chr7:117149900-117157211 (-)
DBA/2J MGP_DBA2J_G0032586
 protein coding gene Chr7:104424965-104432276 (-)
FVB/NJ MGP_FVBNJ_G0032539
 protein coding gene Chr7:104232916-104240229 (-)
LP/J MGP_LPJ_G0032677
 protein coding gene Chr7:110420236-110427547 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032571
 protein coding gene Chr7:118727447-118735282 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033276
 protein coding gene Chr7:108005342-108012722 (-)
PWK/PhJ MGP_PWKPhJ_G0031502
 protein coding gene Chr7:97366254-97373457 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031351
 protein coding gene Chr7:95113207-95120855 (-)
WSB/EiJ MGP_WSBEiJ_G0031906
 protein coding gene Chr7:108640148-108648795 (-)



Homology
more
  • Human Ortholog
    TPP1, tripeptidyl peptidase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TPP1, tripeptidyl peptidase 1
  • Synonyms
    CLN2, GIG1, LPIC, SCAR7, TPP-1
  • Links
    NCBI Gene ID: 1200
    neXtProt AC: NX_O14773
    UniProt: O14773

  • Chr Location
    11p15.4; chr11:6612768-6619448 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tpp1 mouse models; 2 with human TPP1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 4 alleles in 6 genetic backgrounds
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    50
  • GO References
    14
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    937
  • Tissues
    119
  • cDNA Data
    224
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030894 Ensembl Gene Model | MGI Sequence Detail 7425 C57BL/6J ±  kb
    transcript ENSMUST00000033184 Ensembl | MGI Sequence Detail 3558 Not Applicable  
    polypeptide ENSMUSP00000033184 Ensembl | MGI Sequence Detail 562 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 228
      cDNA 225
      Primer pair 3

      Microarray probesets 5
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 6
      Diseases 3
      Gene Ontology 14
      Phenotypes 34
    • Earliest
      J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
    • Latest
      J:347477 Takahashi K, et al., Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model. J Clin Invest. 2023 Jun 15;133(12)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/12/2024
    MGI 6.24     		The Jackson Laboratory